Familial Adenomatous Polyposis

MONDO:0021056 Pathograph 5 hereditary cancer-predisposing syndrome

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary cancer syndrome caused by germline pathogenic variants in the APC tumor suppressor gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in the colon and rectum, with virtually 100% lifetime risk of colorectal cancer if untreated. FAP exemplifies the adenoma-carcinoma sequence and the role of Wnt/β-catenin pathway dysregulation in colorectal tumorigenesis. Extracolonic manifestations include desmoid tumors, duodenal adenomas, osteomas (Gardner syndrome), and congenital hypertrophy of the retinal pigment epithelium (CHRPE).

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5
Pathophys.
6
Phenotypes
5
Pathograph
1
Genes
4
Treatments
3
Subtypes
9
References
1
Deep Research
◆

Subtypes

3
Classic FAP
Characterized by >100 colorectal adenomatous polyps, typically appearing in adolescence with polyposis by age 20-30. Without prophylactic colectomy, colorectal cancer develops by age 40 on average. Caused by mutations in the mutation cluster region (MCR) of APC.
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
Establishes the classic FAP phenotype as hundreds of colonic polyps with high malignant transformation potential.
Attenuated FAP (AFAP)
Milder phenotype with fewer polyps (10-100), later onset of polyposis, right-sided colon predominance, and delayed colorectal cancer risk (average age 50-55). Associated with mutations at the 5' or 3' ends of APC or in the alternatively spliced region of exon 9.
Gardner Syndrome
FAP variant with prominent extracolonic manifestations including osteomas (especially mandible and skull), epidermoid cysts, desmoid tumors, and dental abnormalities. Historically considered separate but now recognized as FAP with variable expressivity.
⚙

Pathophysiology

5
APC Tumor Suppressor Loss
Germline heterozygous APC mutations result in one functional allele. Somatic loss or mutation of the remaining wild-type allele (second hit) eliminates APC function, initiating adenoma formation. This follows Knudson's two-hit hypothesis for tumor suppressor gene inactivation.
intestinal epithelial cell link
colon link
Downstream
Wnt/β-Catenin Pathway Activation APC loss prevents β-catenin degradation
Show evidence (1 reference)
PMID:28668823 SUPPORT
"In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids."
Confirms that FAP follows the two-hit mechanism for both colorectal cancer and desmoid tumor development.
Wnt/β-Catenin Pathway Activation
APC normally functions in the destruction complex (with Axin, GSK3β, CK1) to phosphorylate β-catenin, targeting it for ubiquitination and proteasomal degradation. Loss of APC allows β-catenin to accumulate, translocate to the nucleus, and activate Wnt target genes driving proliferation.
Wnt signaling pathway link ↑ INCREASED
Downstream
Uncontrolled Intestinal Epithelial Proliferation β-catenin activates proliferative and stemness genes
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with β-catenin"
Confirms that pathogenic APC variants disrupt the APC–β-catenin interaction domains, the molecular basis for Wnt pathway dysregulation downstream of APC loss.
Uncontrolled Intestinal Epithelial Proliferation
Nuclear β-catenin activates TCF/LEF transcription factors, driving expression of Wnt target genes including MYC, CCND1 (cyclin D1), and others that promote cell cycle progression. This results in uncontrolled proliferation of intestinal crypt cells, forming adenomatous polyps.
intestinal epithelial cell link
cell population proliferation link ↑ INCREASED
Downstream
Adenoma Formation Hyperproliferative epithelium forms adenomatous polyps
Adenoma Formation
Sustained Wnt pathway activation drives adenoma development. Adenomas are benign neoplasms but represent the first step in the adenoma-carcinoma sequence. In FAP, hundreds to thousands of adenomas develop, dramatically increasing the probability that one will progress to carcinoma.
colon link rectum link
Downstream
Colorectal Cancer Progression Accumulated mutations drive adenoma-to-carcinoma progression
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
Hundreds of colonic adenomas with high transformation potential is the defining FAP feature that drives near-certain malignant progression.
Colorectal Cancer Progression
Adenomas acquire additional mutations in KRAS, TP53, SMAD4, and other genes through the adenoma-carcinoma sequence. In FAP, the large number of adenomas makes it virtually certain that at least one will progress to invasive adenocarcinoma without intervention.
cell population proliferation link ↑ INCREASED
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids."
Two-hit inactivation of APC is the critical molecular step in FAP-driven colorectal cancer development.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Familial Adenomatous Polyposis Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

6
Digestive 3
Colorectal Polyposis OBLIGATE Large intestinal polyposis (HP:0030255)
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
The defining FAP phenotype is the presence of hundreds of colonic adenomatous polyps.
Colorectal Cancer VERY_FREQUENT Colon cancer (HP:0003003)
Show evidence (1 reference)
PMID:28668823 SUPPORT Human Clinical
"In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids."
Colorectal cancer is the principal malignant outcome of FAP, driven by two-hit APC inactivation.
Duodenal Adenomas VERY_FREQUENT Small intestinal polyposis (HP:0030256)
Eye 1
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) FREQUENT Abnormal retinal pigmentation (HP:0007703)
Musculoskeletal 1
Osteomas FREQUENT Osteoma (HP:0100246)
Neoplasm 1
Desmoid Tumors FREQUENT Desmoid tumor (HP:6001034)
Show evidence (1 reference)
PMID:28668823 SUPPORT
"Among associated lesions in FAP, desmoid tumors represent a common possible life-threatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery."
Review confirms desmoid tumors are a serious complication of FAP with particularly high incidence after abdominal surgery.
🧬

Genetic Associations

1
APC (Germline Loss-of-Function Mutations)
Autosomal Dominant
Show evidence (1 reference)
PMID:28668823 PARTIAL
"Several lines of evidence show that germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with β-catenin, whereas somatic second mutations involve the downstream region of the gene."
Supports APC domain involvement and second-hit pattern, but does not fully cover all detailed genotype-phenotype and de novo rate claims in this entry.
💊

Treatments

4
Prophylactic Colectomy
Action: surgical procedure MAXO:0000004
Surgical removal of the colon is the primary management to prevent colorectal cancer. Options include total proctocolectomy with ileal pouch-anal anastomosis (IPAA) or subtotal colectomy with ileorectal anastomosis (IRA). Timing is typically in late teens/early twenties or when polyp burden becomes unmanageable endoscopically.
Endoscopic Surveillance
Action: colonoscopy MAXO:0001184
Annual colonoscopy beginning at age 10-12 in at-risk individuals to detect polyp development. Upper endoscopy every 1-4 years to monitor duodenal adenomas using Spigelman staging. Surveillance of rectal stump or pouch after colectomy.
Genetic Counseling
Action: genetic counseling MAXO:0000079
Genetic counseling and testing for at-risk family members. Children of affected parents have 50% risk. Predictive testing allows targeted surveillance in mutation carriers and reassurance for non-carriers.
Chemoprevention
Action: chemoprevention Ontology label: Pharmacotherapy NCIT:C15986
Sulindac and celecoxib (COX-2 inhibitors) have demonstrated ability to reduce polyp number and size but do not eliminate cancer risk. Used as adjunct to surveillance, not as alternative to surgery.
🔬

Biochemical Markers

1
APC Genetic Testing
{ }

Source YAML

click to show 
name: Familial Adenomatous Polyposis
creation_date: '2026-01-26T02:55:13Z'
updated_date: '2026-05-08T23:53:01Z'
description: >-
  Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary cancer
  syndrome caused by germline pathogenic variants in the APC tumor suppressor gene.
  It is characterized by the development of hundreds to thousands of adenomatous
  polyps in the colon and rectum, with virtually 100% lifetime risk of colorectal
  cancer if untreated. FAP exemplifies the adenoma-carcinoma sequence and the role
  of Wnt/β-catenin pathway dysregulation in colorectal tumorigenesis. Extracolonic
  manifestations include desmoid tumors, duodenal adenomas, osteomas (Gardner syndrome),
  and congenital hypertrophy of the retinal pigment epithelium (CHRPE).
categories:
- Hereditary Cancer Syndrome
- Cancer Predisposition Syndrome
- Polyposis Syndrome
parents:
- hereditary cancer-predisposing syndrome
has_subtypes:
- name: Classic FAP
  description: >-
    Characterized by >100 colorectal adenomatous polyps, typically appearing in
    adolescence with polyposis by age 20-30. Without prophylactic colectomy,
    colorectal cancer develops by age 40 on average. Caused by mutations in the
    mutation cluster region (MCR) of APC.
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
    explanation: >-
      Establishes the classic FAP phenotype as hundreds of colonic polyps
      with high malignant transformation potential.
- name: Attenuated FAP (AFAP)
  description: >-
    Milder phenotype with fewer polyps (10-100), later onset of polyposis,
    right-sided colon predominance, and delayed colorectal cancer risk (average
    age 50-55). Associated with mutations at the 5' or 3' ends of APC or in
    the alternatively spliced region of exon 9.
- name: Gardner Syndrome
  description: >-
    FAP variant with prominent extracolonic manifestations including osteomas
    (especially mandible and skull), epidermoid cysts, desmoid tumors, and
    dental abnormalities. Historically considered separate but now recognized
    as FAP with variable expressivity.
pathophysiology:
- name: APC Tumor Suppressor Loss
  description: >-
    Germline heterozygous APC mutations result in one functional allele. Somatic
    loss or mutation of the remaining wild-type allele (second hit) eliminates
    APC function, initiating adenoma formation. This follows Knudson's two-hit
    hypothesis for tumor suppressor gene inactivation.
  cell_types:
  - preferred_term: intestinal epithelial cell
    term:
      id: CL:0002563
      label: intestinal epithelial cell
  locations:
  - preferred_term: colon
    term:
      id: UBERON:0001155
      label: colon
  downstream:
  - target: Wnt/β-Catenin Pathway Activation
    description: APC loss prevents β-catenin degradation
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    snippet: >-
      In agreement with Knudson's 'two-hit' theory, the inactivation of the residual
      APC gene in FAP is a critical step in the development of both colorectal
      cancer and desmoids.
    explanation: >-
      Confirms that FAP follows the two-hit mechanism for both colorectal cancer
      and desmoid tumor development.
- name: Wnt/β-Catenin Pathway Activation
  description: >-
    APC normally functions in the destruction complex (with Axin, GSK3β, CK1)
    to phosphorylate β-catenin, targeting it for ubiquitination and proteasomal
    degradation. Loss of APC allows β-catenin to accumulate, translocate to the
    nucleus, and activate Wnt target genes driving proliferation.
  biological_processes:
  - preferred_term: Wnt signaling pathway
    modifier: INCREASED
    term:
      id: GO:0016055
      label: Wnt signaling pathway
  downstream:
  - target: Uncontrolled Intestinal Epithelial Proliferation
    description: β-catenin activates proliferative and stemness genes
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with β-catenin"
    explanation: >-
      Confirms that pathogenic APC variants disrupt the APC–β-catenin
      interaction domains, the molecular basis for Wnt pathway dysregulation
      downstream of APC loss.
- name: Uncontrolled Intestinal Epithelial Proliferation
  description: >-
    Nuclear β-catenin activates TCF/LEF transcription factors, driving expression
    of Wnt target genes including MYC, CCND1 (cyclin D1), and others that promote
    cell cycle progression. This results in uncontrolled proliferation of
    intestinal crypt cells, forming adenomatous polyps.
  cell_types:
  - preferred_term: intestinal epithelial cell
    term:
      id: CL:0002563
      label: intestinal epithelial cell
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  downstream:
  - target: Adenoma Formation
    description: Hyperproliferative epithelium forms adenomatous polyps
- name: Adenoma Formation
  description: >-
    Sustained Wnt pathway activation drives adenoma development. Adenomas are
    benign neoplasms but represent the first step in the adenoma-carcinoma
    sequence. In FAP, hundreds to thousands of adenomas develop, dramatically
    increasing the probability that one will progress to carcinoma.
  locations:
  - preferred_term: colon
    term:
      id: UBERON:0001155
      label: colon
  - preferred_term: rectum
    term:
      id: UBERON:0001052
      label: rectum
  downstream:
  - target: Colorectal Cancer Progression
    description: Accumulated mutations drive adenoma-to-carcinoma progression
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
    explanation: >-
      Hundreds of colonic adenomas with high transformation potential is the
      defining FAP feature that drives near-certain malignant progression.
- name: Colorectal Cancer Progression
  description: >-
    Adenomas acquire additional mutations in KRAS, TP53, SMAD4, and other genes
    through the adenoma-carcinoma sequence. In FAP, the large number of adenomas
    makes it virtually certain that at least one will progress to invasive
    adenocarcinoma without intervention.
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids."
    explanation: >-
      Two-hit inactivation of APC is the critical molecular step in FAP-driven
      colorectal cancer development.
phenotypes:
- category: Gastrointestinal
  name: Colorectal Polyposis
  frequency: OBLIGATE
  diagnostic: true
  description: >-
    Hundreds to thousands of adenomatous polyps carpet the colon and rectum.
    Polyps typically appear in adolescence in classic FAP. The number and
    density of polyps correlates with mutation location in APC.
  phenotype_term:
    preferred_term: Large intestinal polyposis
    term:
      id: HP:0030255
      label: Large intestinal polyposis
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation."
    explanation: >-
      The defining FAP phenotype is the presence of hundreds of colonic
      adenomatous polyps.
- category: Neoplastic
  name: Colorectal Cancer
  frequency: VERY_FREQUENT
  description: >-
    Without prophylactic surgery, colorectal cancer develops in nearly 100%
    of patients with classic FAP, typically by age 40. The average age of
    cancer diagnosis is 39 years without surveillance/intervention.
  phenotype_term:
    preferred_term: Colon cancer
    term:
      id: HP:0003003
      label: Colon cancer
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids."
    explanation: >-
      Colorectal cancer is the principal malignant outcome of FAP,
      driven by two-hit APC inactivation.
- category: Gastrointestinal
  name: Duodenal Adenomas
  frequency: VERY_FREQUENT
  description: >-
    Duodenal adenomas, especially periampullary, occur in 80-90% of FAP patients.
    They carry risk of progression to duodenal/ampullary adenocarcinoma, which
    is a leading cause of death in post-colectomy FAP patients.
  phenotype_term:
    preferred_term: Small intestinal polyposis
    term:
      id: HP:0030256
      label: Small intestinal polyposis
- category: Musculoskeletal
  name: Desmoid Tumors
  frequency: FREQUENT
  description: >-
    Desmoid tumors (aggressive fibromatoses) occur in 10-15% of FAP patients,
    often in the mesentery or abdominal wall. They can cause significant
    morbidity through local invasion and compression. More common with 3' APC
    mutations and after abdominal surgery.
  phenotype_term:
    preferred_term: Desmoid tumor
    term:
      id: HP:6001034
      label: Desmoid tumor
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: SUPPORT
    snippet: >-
      Among associated lesions in FAP, desmoid tumors represent a common possible
      life-threatening condition that requires special attention. They are rare
      tumors occurring with a particularly high incidence in FAP, especially after
      surgery.
    explanation: >-
      Review confirms desmoid tumors are a serious complication of FAP with
      particularly high incidence after abdominal surgery.
- category: Musculoskeletal
  name: Osteomas
  frequency: FREQUENT
  description: >-
    Benign bony growths, particularly of the mandible and skull. Characteristic
    of Gardner syndrome phenotype. May be detected radiographically before
    polyposis becomes apparent.
  phenotype_term:
    preferred_term: Osteoma
    term:
      id: HP:0100246
      label: Osteoma
- category: Ophthalmologic
  name: Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE)
  frequency: FREQUENT
  description: >-
    Pigmented lesions of the retinal pigment epithelium present from birth.
    Multiple bilateral CHRPE lesions are highly specific for FAP and can be
    detected before polyp development, aiding early diagnosis.
  phenotype_term:
    preferred_term: Abnormality of retinal pigmentation
    term:
      id: HP:0007703
      label: Abnormal retinal pigmentation
biochemical:
- name: APC Genetic Testing
  notes: >-
    Molecular testing identifies germline APC mutations in 70-90% of classic FAP
    families. Mutations include truncating variants, large deletions, and deep
    intronic variants. Genotype-phenotype correlations exist: mutations in the
    MCR (codons 1250-1464) cause severe polyposis; 5'/3' mutations cause AFAP.
genetic:
- name: APC
  association: Germline Loss-of-Function Mutations
  inheritance:
  - name: Autosomal Dominant
  notes: >-
    APC (5q22.2) encodes adenomatous polyposis coli, a key component of the
    β-catenin destruction complex. Most germline mutations are truncating
    (nonsense, frameshift) resulting in loss of function. De novo mutations
    account for 20-30% of cases. Mutation location correlates with phenotype:
    MCR mutations (codons 1250-1464) cause classic severe FAP; 5' mutations
    (before codon 157) and 3' mutations (after codon 1595) cause attenuated FAP.
  evidence:
  - reference: PMID:28668823
    reference_title: "Desmoid Tumors in Familial Adenomatous Polyposis."
    supports: PARTIAL
    snippet: >-
      Several lines of evidence show that germline mutations affect the functional
      domains of the APC gene that are responsible for interactions of the transcript
      with β-catenin, whereas somatic second mutations involve the downstream region
      of the gene.
    explanation: >-
      Supports APC domain involvement and second-hit pattern, but does not fully
      cover all detailed genotype-phenotype and de novo rate claims in this entry.
treatments:
- name: Prophylactic Colectomy
  description: >-
    Surgical removal of the colon is the primary management to prevent colorectal
    cancer. Options include total proctocolectomy with ileal pouch-anal anastomosis
    (IPAA) or subtotal colectomy with ileorectal anastomosis (IRA). Timing is
    typically in late teens/early twenties or when polyp burden becomes
    unmanageable endoscopically.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
- name: Endoscopic Surveillance
  description: >-
    Annual colonoscopy beginning at age 10-12 in at-risk individuals to detect
    polyp development. Upper endoscopy every 1-4 years to monitor duodenal
    adenomas using Spigelman staging. Surveillance of rectal stump or pouch
    after colectomy.
  treatment_term:
    preferred_term: colonoscopy
    term:
      id: MAXO:0001184
      label: colonoscopy
- name: Genetic Counseling
  description: >-
    Genetic counseling and testing for at-risk family members. Children of
    affected parents have 50% risk. Predictive testing allows targeted
    surveillance in mutation carriers and reassurance for non-carriers.
  treatment_term:
    preferred_term: genetic counseling
    term:
      id: MAXO:0000079
      label: genetic counseling
- name: Chemoprevention
  description: >-
    Sulindac and celecoxib (COX-2 inhibitors) have demonstrated ability to
    reduce polyp number and size but do not eliminate cancer risk. Used as
    adjunct to surveillance, not as alternative to surgery.
  treatment_term:
    preferred_term: chemoprevention
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
disease_term:
  preferred_term: familial adenomatous polyposis 1
  term:
    id: MONDO:0021056
    label: familial adenomatous polyposis 1
references:
- reference: DOI:10.1007/s00384-024-04776-8
  title: 'Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis'
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity.
    supporting_text: Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity.
    evidence:
    - reference: DOI:10.1007/s00384-024-04776-8
      reference_title: 'Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.1007/s10689-025-00460-0
  title: Genetics, genomics and clinical features of adenomatous polyposis
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Genetics, genomics and clinical features of adenomatous polyposis
    supporting_text: Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies.
    evidence:
    - reference: DOI:10.1007/s10689-025-00460-0
      reference_title: Genetics, genomics and clinical features of adenomatous polyposis
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.1007/s10689-025-00462-y
  title: 'Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease'
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally.
    supporting_text: Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally.
    evidence:
    - reference: DOI:10.1007/s10689-025-00462-y
      reference_title: 'Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.1007/s44197-023-00171-8
  title: Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer.
    supporting_text: Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer.
    evidence:
    - reference: DOI:10.1007/s44197-023-00171-8
      reference_title: Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.1038/s41431-024-01585-z
  title: 'Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study'
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP).
    supporting_text: In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP).
    evidence:
    - reference: DOI:10.1038/s41431-024-01585-z
      reference_title: 'Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP).
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.1055/a-2011-1933
  title: 'Personalized endoscopic surveillance and intervention protocols for patients with familial adenomatous polyposis: the European FAP Consortium strategy'
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer.
    supporting_text: Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer.
    evidence:
    - reference: DOI:10.1055/a-2011-1933
      reference_title: 'Personalized endoscopic surveillance and intervention protocols for patients with familial adenomatous polyposis: the European FAP Consortium strategy'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.2147/tacg.s372241
  title: Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
    supporting_text: Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
- reference: DOI:10.3390/ijms24065687
  title: Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations.
    supporting_text: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations.
    evidence:
    - reference: DOI:10.3390/ijms24065687
      reference_title: Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations.
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
- reference: DOI:10.6004/jnccn.2024.0061
  title: 'Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology'
  found_in:
  - Familial_Adenomatous_Polyposis-deep-research-falcon.md
  findings:
  - statement: Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC).
    supporting_text: Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC).
    evidence:
    - reference: DOI:10.6004/jnccn.2024.0061
      reference_title: 'Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC).
      explanation: Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
📚

References & Deep Research

References

9
DOI:10.1007/s00384-024-04776-8
Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis
1 finding
Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity.
"Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity."
Show evidence (1 reference)
DOI:10.1007/s00384-024-04776-8 SUPPORT Human Clinical
"Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.1007/s10689-025-00460-0
Genetics, genomics and clinical features of adenomatous polyposis
1 finding
Genetics, genomics and clinical features of adenomatous polyposis
"Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies."
Show evidence (1 reference)
DOI:10.1007/s10689-025-00460-0 SUPPORT Other
"Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.1007/s10689-025-00462-y
Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease
1 finding
Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally.
"Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally."
Show evidence (1 reference)
DOI:10.1007/s10689-025-00462-y SUPPORT Other
"Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.1007/s44197-023-00171-8
Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome
1 finding
Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer.
"Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer."
Show evidence (1 reference)
DOI:10.1007/s44197-023-00171-8 SUPPORT Human Clinical
"Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.1038/s41431-024-01585-z
Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study
1 finding
In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP).
"In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP)."
Show evidence (1 reference)
DOI:10.1038/s41431-024-01585-z SUPPORT Human Clinical
"In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP)."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.1055/a-2011-1933
Personalized endoscopic surveillance and intervention protocols for patients with familial adenomatous polyposis: the European FAP Consortium strategy
1 finding
Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer.
"Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer."
Show evidence (1 reference)
DOI:10.1055/a-2011-1933 SUPPORT Other
"Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.2147/tacg.s372241
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
1 finding
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
"Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis"
DOI:10.3390/ijms24065687
Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis
1 finding
Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations.
"Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations."
Show evidence (1 reference)
DOI:10.3390/ijms24065687 SUPPORT Human Clinical
"Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and a wide range of systemic extra-intestinal manifestations."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.
DOI:10.6004/jnccn.2024.0061
Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology
1 finding
Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC).
"Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC)."
Show evidence (1 reference)
DOI:10.6004/jnccn.2024.0061 SUPPORT Human Clinical
"Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC)."
Deep research cited this publication as relevant literature for Familial Adenomatous Polyposis.

Deep Research

1
Falcon ▸
Disease Characteristics Research Template
Edison Scientific Literature 33 citations 2026-05-08T15:26:15.455085

Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Characteristics Research Template

Target Disease

  • Disease Name: Familial Adenomatous Polyposis
  • MONDO ID: (if available)
  • Category:

Research Objectives

Please provide a comprehensive research report on Familial Adenomatous Polyposis covering all of the disease characteristics listed below. This report will be used to populate a disease knowledge base entry. Be thorough and cite primary literature (PMID preferred) for all claims.

For each section, suggested databases/resources are listed. These are the first places you should search for information on each topic.

1. Disease Information

Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed

  • What is the disease? Provide a concise overview.
  • What are the key identifiers? (OMIM, Orphanet, ICD-10/ICD-11, MeSH, Mondo)
  • What are the common synonyms and alternative names?
  • Is the information derived from individual patients (e.g., EHR) or aggregated disease-level resources?

2. Etiology

  • Disease Causal Factors: What are the primary causes? (genetic, environmental, infectious, mechanistic)
  • Risk Factors:

    Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases

  • Genetic risk factors (causal variants, susceptibility loci, modifier genes)
  • Environmental risk factors (toxins, lifestyle, occupational exposures, age, sex, family history)
  • Protective Factors:

    Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases

  • Genetic protective factors (protective variants, modifier alleles)
  • Environmental protective factors (diet, lifestyle, exposures that reduce risk)
  • Gene-Environment Interactions: How do genetic and environmental factors interact to influence disease?

    Search first: CTD, PubMed, PheGenI, GxE databases

3. Phenotypes

Search first: HPO (Human Phenotype Ontology), OMIM, Orphanet, PubMed, clinicaltrials.gov, MedDRA, SNOMED CT, DECIPHER, LOINC

For each phenotype, provide: - Phenotype type: symptoms, clinical signs, physical manifestations, behavioral changes, or laboratory abnormalities

For symptoms/signs: HPO, OMIM, Orphanet, PubMed For behavioral changes: HPO, DSM, RDoC (Research Domain Criteria), PubMed For laboratory abnormalities: LOINC, SNOMED CT, LabTests Online, PubMed - Phenotype characteristics: Search first: OMIM, Orphanet, HPO, PubMed - Age of symptom onset (neonatal, childhood, adult-onset, late-onset) - Symptom severity (mild, moderate, severe, variable) - Symptom progression (stable, progressive, episodic, fluctuating) - Frequency among affected individuals (percentage or qualitative) - Quality of life impact: Effects on daily functioning and well-being (per-phenotype when possible) Search first: EQ-5D database, SF-36, WHO QOL databases, PubMed - Suggest HPO (Human Phenotype Ontology) terms for each phenotype

4. Genetic/Molecular Information

  • Causal Genes: Gene mutations or chromosomal abnormalities responsible for disease (gene symbols, OMIM IDs)

    Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene

  • Pathogenic Variants:
  • Affected genes (gene symbols, HGNC IDs) > Search first: OMIM, NCBI Gene, Ensembl, HGNC, UniProt, GeneCards
  • Variant classification (pathogenic, likely pathogenic, VUS per ACMG/AMP guidelines) > Search first: ClinVar, ClinGen, ACMG/AMP guidelines, VarSome
  • Variant type/class (missense, frameshift, nonsense, splice-site, structural)
  • Allele frequency in population databases > Search first: gnomAD, 1000 Genomes, ExAC, TOPMed, dbSNP
  • Somatic vs germline origin > Search first: COSMIC (somatic), ClinVar, ICGC, TCGA
  • Functional consequences (loss of function, gain of function, dominant negative)
  • Modifier Genes: Genes that modify disease severity or expression
  • Epigenetic Information: DNA methylation, histone modifications, chromatin changes affecting disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Chromosomal Abnormalities: Large-scale genetic changes (aneuploidy, translocations, inversions)

    Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser

5. Environmental Information

  • Environmental Factors: Non-genetic contributing factors (toxins, radiation, pollution, occupational exposure)

    Search first: CTD (Comparative Toxicogenomics Database), TOXNET, PubMed, EPA databases

  • Lifestyle Factors: Behavioral factors (smoking, diet, exercise, alcohol consumption)

    Search first: CDC databases, WHO, PubMed, NHANES

  • Infectious Agents: If applicable, pathogens causing or triggering disease (bacteria, viruses, fungi, parasites)

    Search first: NCBI Taxonomy, ViPR, BV-BRC, MicrobeDB, GIDEON

6. Mechanism / Pathophysiology

  • Molecular Pathways: Specific signaling cascades or biochemical pathways involved (Wnt, MAPK, mTOR, PI3K-AKT, etc.)

    Search first: KEGG, Reactome, WikiPathways, PathBank, BioCyc

  • Cellular Processes: Cell-level mechanisms (apoptosis, autophagy, cell cycle dysregulation, inflammation, etc.)

    Search first: Gene Ontology (GO), Reactome, KEGG, PubMed

  • Protein Dysfunction: How protein structure or function is altered (misfolding, aggregation, loss of function, gain of function)

    Search first: UniProt, PDB (Protein Data Bank), InterPro, Pfam, AlphaFold

  • Metabolic Changes: Alterations in metabolic processes (energy metabolism, lipid metabolism, amino acid metabolism)

    Search first: KEGG, BioCyc, HMDB (Human Metabolome Database), BRENDA

  • Immune System Involvement: Role of immune response (autoimmunity, immunodeficiency, chronic inflammation)

    Search first: ImmPort, Immunome Database, IEDB, Gene Ontology

  • Tissue Damage Mechanisms: How tissues/ are injured (oxidative stress, ischemia, fibrosis, necrosis)

    Search first: PubMed, Gene Ontology, Reactome

  • Biochemical Abnormalities: Specific molecular defects (enzyme deficiencies, receptor dysfunction, ion channel defects)

    Search first: BRENDA, UniProt, KEGG, OMIM, PubMed

  • Epigenetic Changes: DNA methylation, histone modifications affecting gene expression in disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Molecular Profiling (if available):
  • Transcriptomics/gene expression changes > Search first: GEO (Gene Expression Omnibus), ArrayExpress, GTEx, Human Cell Atlas, SRA
  • Proteomics findings > Search first: PRIDE, ProteomeXchange, Human Protein Atlas, STRING, BioGRID
  • Metabolomics signatures > Search first: MetaboLights, Metabolomics Workbench, HMDB, METLIN
  • Lipidomics alterations > Search first: LIPID MAPS, SwissLipids, LipidHome, Metabolomics Workbench
  • Genomic structural features > Search first: UCSC Genome Browser, Ensembl, NCBI, dbVar, DGV
  • Advanced Technologies (if applicable):
  • Single-cell analysis findings (cell-type specific mechanisms, cellular heterogeneity) > Search first: Human Cell Atlas, Single Cell Portal, GEO, CELLxGENE
  • Spatial transcriptomics findings > Search first: GEO, Spatial Research, Vizgen, 10x Genomics data
  • Multi-omics integration results > Search first: TCGA, ICGC, cBioPortal, LinkedOmics, PubMed
  • Functional genomics screens (CRISPR, RNAi) > Search first: DepMap, GenomeRNAi, PubMed, BioGRID ORCS

For each mechanism, describe: - The causal chain from initial trigger to clinical manifestation - Which mechanisms are upstream vs downstream - What cell types and biological processes are involved - Suggest GO terms for biological processes and CL terms for cell types

7. Anatomical Structures Affected

  • Organ Level:
  • Primary organs directly affected
  • Secondary organ involvement (complications, secondary effects)
  • Body systems involved (cardiovascular, nervous, digestive, respiratory, endocrine, etc.)

    Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT

  • Tissue and Cell Level:
  • Specific tissue types affected (epithelial, connective, muscle, nervous)
  • Specific cell populations targeted (with Cell Ontology terms)

    Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB

  • Subcellular Level:
  • Cellular compartments involved (mitochondria, nucleus, ER, lysosomes) (with GO Cellular Component terms)

    Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas

  • Localization:
  • Specific anatomical sites (with UBERON terms) > Search first: FMA, Uberon, NeuroNames (for brain), SNOMED CT
  • Lateralization (unilateral, bilateral, asymmetric) > Search first: HPO, clinical literature, imaging databases

8. Temporal Development

  • Onset:
  • Typical age of onset (congenital, pediatric, adult, geriatric)
  • Onset pattern (acute, subacute, chronic, insidious)

    Search first: OMIM, Orphanet, HPO, PubMed

  • Progression:
  • Disease stages (early, intermediate, advanced, end-stage) > Search first: Cancer Staging Manual (AJCC), WHO classifications, PubMed
  • Progression rate (rapid, slow, variable)
  • Disease course pattern (episodic, relapsing-remitting, progressive, stable)
  • Disease duration (self-limited, chronic lifelong)

    Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM

  • Patterns:
  • Remission patterns (spontaneous, treatment-induced) > Search first: Clinical trial databases, disease registries, PubMed
  • Critical periods (time windows of vulnerability or opportunity for intervention) > Search first: PubMed, developmental biology databases, clinical guidelines

9. Inheritance and Population

  • Epidemiology:
  • Prevalence (cases per 100,000 at given time)
  • Incidence (new cases per 100,000 per year)

    Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries

  • For Genetic Etiology:
  • Inheritance pattern (AD, AR, X-linked, mitochondrial, multifactorial, polygenic) > Search first: OMIM, Orphanet, ClinVar, GTR (Genetic Testing Registry)
  • Penetrance (complete, incomplete, age-dependent) > Search first: ClinVar, OMIM, PubMed, ClinGen
  • Expressivity (variable, consistent) > Search first: OMIM, ClinVar, PubMed
  • Genetic anticipation (increasing severity in successive generations) > Search first: OMIM, PubMed (especially for repeat expansion disorders)
  • Germline mosaicism > Search first: ClinVar, OMIM, genetic counseling literature, PubMed
  • Founder effects (population-specific mutations) > Search first: gnomAD, population genetics databases, PubMed
  • Consanguinity role > Search first: OMIM, population studies, genetic counseling resources
  • Carrier frequency > Search first: gnomAD, carrier screening databases, GeneReviews, GTR
  • Population Demographics:
  • Affected populations (ethnic or demographic groups with higher prevalence) > Search first: gnomAD, 1000 Genomes, PAGE Study, PubMed, population registries
  • Geographic distribution (endemic areas, regional variation) > Search first: WHO, CDC, GBD, Orphanet, geographic epidemiology databases
  • Geographic distribution of specific variants
  • Sex ratio (male:female) > Search first: Disease registries, OMIM, PubMed, epidemiological databases
  • Age distribution of affected individuals > Search first: CDC, disease registries, SEER, Orphanet

10. Diagnostics

  • Clinical Tests:
  • Laboratory tests (blood, urine, tissue chemistry, specific enzyme assays) > Search first: LOINC, LabTests Online, PubMed
  • Biomarkers (proteins, metabolites, genetic markers, circulating biomarkers) > Search first: FDA Biomarker List, BEST (Biomarkers, EndpointS, and other Tools), PubMed
  • Imaging studies (X-ray, CT, MRI, PET, ultrasound) > Search first: RadLex, DICOM, Radiopaedia, imaging databases
  • Functional tests (pulmonary function, cardiac stress tests) > Search first: LOINC, clinical guidelines, PubMed
  • Electrophysiology (EEG, EMG, ECG, nerve conduction studies) > Search first: LOINC, clinical neurophysiology databases, PubMed
  • Biopsy findings (histopathology, immunohistochemistry) > Search first: SNOMED CT, College of American Pathologists resources, PubMed
  • Pathology findings (microscopic examination) > Search first: SNOMED CT, Digital Pathology databases, PubMed
  • Genetic Testing:

    Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen

  • Overview of recommended genetic testing approach
  • Whole genome sequencing (WGS) utility > Search first: GTR, ClinVar, GEL (Genomics England), gnomAD
  • Whole exome sequencing (WES) utility > Search first: GTR, ClinVar, OMIM, GeneMatcher
  • Gene panels (which panels, which genes) > Search first: GTR, ClinVar, laboratory-specific databases
  • Single gene testing > Search first: GTR, ClinVar, OMIM, GeneReviews
  • Chromosomal microarray (CMA) > Search first: DECIPHER, ClinVar, dbVar, ECARUCA
  • Karyotyping > Search first: Chromosome Abnormality Database, ClinVar, cytogenetics resources
  • FISH > Search first: ClinVar, cytogenetics databases, PubMed
  • Mitochondrial DNA testing > Search first: MITOMAP, MSeqDR, ClinVar, GTR
  • Repeat expansion testing > Search first: GTR, ClinVar, repeat expansion databases, PubMed
  • Omics-Based Diagnostics (if applicable):
  • RNA sequencing / transcriptomics > Search first: GEO, ArrayExpress, GTEx, RNA-seq databases
  • Proteomics > Search first: PRIDE, ProteomeXchange, FDA Biomarker database
  • Metabolomics > Search first: MetaboLights, Metabolomics Workbench, HMDB
  • Epigenomics > Search first: GEO, ENCODE, Roadmap Epigenomics, MethBase
  • Liquid biopsy > Search first: COSMIC, ClinVar, liquid biopsy databases, PubMed
  • Clinical Criteria:
  • Standardized diagnostic criteria (DSM, ICD, society guidelines) > Search first: DSM-5, ICD-11, clinical society guidelines, UpToDate
  • Differential diagnosis (other conditions to rule out, with distinguishing features) > Search first: DynaMed, UpToDate, clinical decision support systems
  • Screening:
  • Screening methods for asymptomatic individuals (newborn screening, carrier screening, cascade screening) > Search first: ACMG recommendations, CDC newborn screening, GTR

11. Outcome/Prognosis

  • Survival and Mortality:
  • Survival rate (5-year, 10-year, overall) > Search first: SEER, cancer registries, disease-specific registries, PubMed
  • Life expectancy (with and without treatment if applicable) > Search first: Orphanet, disease registries, actuarial databases, PubMed
  • Mortality rate > Search first: CDC, WHO, GBD, national mortality databases
  • Disease-specific mortality (deaths directly attributable to disease) > Search first: Disease registries, CDC Wonder, GBD, PubMed
  • Morbidity and Function:
  • Morbidity (disease-related disability and health impacts) > Search first: GBD, WHO, disability databases, PubMed
  • Disability outcomes (long-term functional impairments) > Search first: ICF (International Classification of Functioning), disability registries
  • Quality of life measures (EQ-5D, SF-36, PROMIS, disease-specific tools) > Search first: EQ-5D database, SF-36, PROMIS, PubMed
  • Disease Course:
  • Complications (secondary problems: infections, organ failure, etc.) > Search first: ICD codes, disease registries, clinical databases, PubMed
  • Recovery potential (likelihood and extent of recovery, with vs without treatment) > Search first: Natural history studies, rehabilitation databases, PubMed
  • Prediction:
  • Prognostic factors (age, disease severity, biomarkers, treatment response) > Search first: Prognostic models databases, clinical calculators, PubMed
  • Prognostic biomarkers (molecular markers predicting disease course) > Search first: FDA Biomarker database, PubMed, cancer prognostic databases

12. Treatment

  • Pharmacotherapy:
  • Pharmacological treatments (drug names, drug classes, mechanisms of action) > Search first: DrugBank, RxNorm, ATC classification, DailyMed, FDA databases
  • Pharmacogenomics (how genetic variants affect drug metabolism, efficacy, toxicity) > Search first: PharmGKB, CPIC (Clinical Pharmacogenetics), FDA Table of PGx Biomarkers
  • Advanced Therapeutics:
  • Gene therapy (viral vectors, CRISPR, gene replacement, gene editing) > Search first: ClinicalTrials.gov, FDA gene therapy database, ASGCT resources
  • Cell therapy (stem cell transplant, CAR-T, cellular therapeutics) > Search first: ClinicalTrials.gov, FDA cell therapy database, FACT standards
  • RNA-based therapies (ASOs, siRNA, mRNA therapies) > Search first: ClinicalTrials.gov, FDA approvals, PubMed
  • Targeted therapies (treatments directed at specific molecular targets) > Search first: My Cancer Genome, OncoKB, ClinicalTrials.gov, FDA approvals
  • Immunotherapies (checkpoint inhibitors, monoclonal antibodies) > Search first: Cancer Immunotherapy Database, FDA approvals, ClinicalTrials.gov
  • Surgical and Interventional:
  • Surgical interventions (types of surgery, timing, outcomes) > Search first: CPT codes, surgical registries, clinical guidelines, PubMed
  • Supportive and Rehabilitative:
  • Supportive care (symptom management, pain control, nutrition) > Search first: Clinical guidelines, Cochrane Library, PubMed
  • Rehabilitation (physical therapy, occupational therapy, speech therapy) > Search first: Rehabilitation medicine databases, clinical guidelines, PubMed
  • Experimental:
  • Experimental treatments in clinical trials (with NCT identifiers if available) > Search first: ClinicalTrials.gov, EU Clinical Trials Register, WHO ICTRP
  • Treatment Outcomes:
  • Treatment response rates > Search first: Clinical trial databases, FDA reviews, systematic reviews, PubMed
  • Side effects and adverse events > Search first: FDA Adverse Event Reporting System (FAERS), MedWatch, PubMed
  • Treatment Strategy:
  • Treatment algorithms (clinical pathways, decision trees) > Search first: Clinical practice guidelines, NCCN Guidelines, UpToDate
  • Combination therapies > Search first: ClinicalTrials.gov, treatment guidelines, PubMed
  • Personalized medicine approaches (genotype-guided treatment) > Search first: My Cancer Genome, CIViC, PharmGKB, precision medicine databases

For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.

13. Prevention

  • Prevention Levels:
  • Primary prevention (preventing disease occurrence: vaccination, risk factor modification) > Search first: CDC, WHO, USPSTF recommendations, Cochrane Library
  • Secondary prevention (early detection and treatment: screening programs, early intervention) > Search first: USPSTF, CDC screening guidelines, WHO
  • Tertiary prevention (preventing complications in those with disease) > Search first: Clinical guidelines, disease management protocols, PubMed
  • Immunization: Vaccine strategies (if applicable)

    Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database

  • Screening and Early Detection:
  • Screening programs (population-based: newborn screening, cancer screening) > Search first: CDC screening programs, USPSTF, cancer screening databases
  • Genetic screening (carrier screening, preimplantation genetic diagnosis, prenatal testing) > Search first: ACMG recommendations, ACOG guidelines, GTR
  • Risk stratification (identifying high-risk individuals for targeted prevention) > Search first: Risk prediction models, clinical calculators, PubMed
  • Behavioral Interventions: Lifestyle modifications to reduce risk

    Search first: CDC, WHO, behavioral intervention databases, Cochrane Library

  • Counseling: Genetic counseling (risk assessment, family planning guidance)

    Search first: NSGC resources, ACMG guidelines, GeneReviews

  • Public Health:
  • Public health interventions (sanitation, vector control, health education) > Search first: CDC, WHO, public health databases, PubMed
  • Environmental interventions (reducing environmental risk factors) > Search first: EPA databases, WHO environmental health, PubMed
  • Prophylaxis: Preventive medications or procedures

    Search first: Clinical guidelines, FDA approvals, PubMed

14. Other Species / Natural Disease

  • Taxonomy: Species affected (with NCBI Taxon identifiers)

    Search first: NCBI Taxonomy

  • Breed: Specific breeds affected (with VBO identifiers if applicable)

    Search first: VBO (Vertebrate Breed Ontology)

  • Gene: Orthologous genes in other species (with NCBI Gene IDs)

    Search first: NCBI Gene

  • Natural Disease:
  • Naturally occurring disease in other species (companion animals, wildlife) > Search first: OMIA (Online Mendelian Inheritance in Animals), VetCompass, PubMed
  • Veterinary relevance and importance in animal health > Search first: OMIA, veterinary databases, PubMed
  • Comparative Biology:
  • Comparative pathology (similarities and differences across species) > Search first: OMIA, comparative pathology databases, PubMed
  • Evolutionary conservation of disease mechanisms > Search first: HomoloGene, OrthoMCL, Alliance of Genome Resources
  • Transmission (if applicable):
  • Zoonotic potential > Search first: CDC zoonotic diseases, WHO zoonoses, GIDEON
  • Cross-species susceptibility > Search first: NCBI Taxonomy, veterinary databases, PubMed

15. Model Organisms

  • Model Types:
  • Model organism type (mammalian, invertebrate, cellular, in vitro) > Search first: Alliance of Genome Resources, model organism databases
  • Specific model systems (mouse, rat, zebrafish, Drosophila, C. elegans, yeast, cell lines, organoids, iPSCs) > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, SGD, ATCC, Cellosaurus
  • Induced models (drug treatment, surgical intervention, environmental manipulation) > Search first: MGI, model organism databases, PubMed
  • Genetic Models:
  • Types available (knockout, knock-in, transgenic, conditional, humanized) > Search first: MGI, IMPC, KOMP, EuMMCR, IMSR
  • Model Characteristics:
  • Phenotype recapitulation (how well model reproduces human disease features) > Search first: Model organism databases, comparative studies, PubMed
  • Model limitations (aspects of human disease not captured) > Search first: Model organism databases, PubMed, review articles
  • Applications:
  • Research applications (what aspects of disease can be studied) > Search first: Model organism databases, PubMed
  • Resources:
  • Model databases > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, IMSR, EMMA, MMRRC

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic and clinical claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes from abstracts where possible to support key statements
  • Distinguish evidence source types: human clinical, model organism, in vitro, computational

Output Format

Structure your response as a comprehensive narrative organized by the sections above. For each section, provide: - Factual content with specific details (numbers, percentages, gene names, variant nomenclature) - Ontology term suggestions (HPO, GO, CL, UBERON, CHEBI, MAXO, MONDO) where applicable - Evidence citations with PMIDs - Direct quotes from abstracts to support key claims - Clear indication when information is not available or not applicable for this disease

This report will be used to populate a disease knowledge base entry with: - Pathophysiology descriptions with causal chains - Gene/protein annotations (HGNC, GO terms) - Phenotype associations (HP terms) with frequencies - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Treatment annotations (MAXO terms) - Evidence items with PMIDs and exact abstract quotes - Epidemiology, prognosis, diagnostic, and prevention information - Animal model descriptions with phenotype recapitulation details

Familial Adenomatous Polyposis (FAP): Disease Characteristics Research Report (2026-05-08)

Executive summary

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colorectal adenomatous polyposis syndrome caused primarily by germline loss-of-function pathogenic variants in APC, leading to the development of hundreds-to-thousands of colorectal adenomas beginning in late childhood/adolescence and (if untreated) an approximately inevitable progression to colorectal cancer (CRC). (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)

Key 2023–2024 themes in the literature retrieved here include: (i) personalized endoscopic surveillance protocols proposed by the European FAP Consortium to standardize lower- and upper-GI surveillance and endoscopic interventions, with prospective evaluation planned; (ii) expanding focus on APC post-zygotic (somatic) mosaicism and the need for mosaicism-aware testing strategies; and (iii) persistent lack of an ideal chemopreventive drug despite many trials, with new pathway targets (eg, mTOR) and ongoing/early-phase strategies. (kyriakidis2023updatedperspectiveson pages 10-12, aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)

1. Disease information

1.1 Definition and overview

FAP is a hereditary cancer syndrome characterized by extensive colorectal adenomatous polyposis (classically hundreds-to-thousands of adenomas) starting in adolescence; without risk-reducing surgery, CRC is near-certain by mid-adulthood (often by ~50 years). (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)

Attenuated FAP (AFAP/aFAP) is a milder clinical form typically presenting with fewer than 100 colorectal adenomas and later onset (often >40 years), and is also associated with specific regions of APC pathogenic variants. (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 2-4)

1.2 Key identifiers and synonyms

A structured set of identifiers/synonyms is summarized in the artifact below; note that MONDO/Orphanet/ICD/MeSH identifiers were not directly retrievable from the tool-accessed evidence in this run, so those are flagged as “not retrieved.”

Identifier system Identifier/code Name used in system Notes
OMIM #175100 Familial adenomatous polyposis OMIM number explicitly reported in a 2023 FAP case report; FAP described as APC-related hereditary colorectal polyposis (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Orphanet not retrieved in tool evidence not retrieved in tool evidence Not directly retrieved from gathered evidence
ICD-10 not retrieved in tool evidence not retrieved in tool evidence Not directly retrieved from gathered evidence
ICD-11 not retrieved in tool evidence not retrieved in tool evidence Not directly retrieved from gathered evidence
MeSH not retrieved in tool evidence not retrieved in tool evidence Not directly retrieved from gathered evidence
MONDO not retrieved in tool evidence not retrieved in tool evidence Not directly retrieved from gathered evidence
Synonym / related entity Relationship to FAP Notes
Classic FAP Core disease form Defined by hundreds to thousands of colorectal adenomas; commonly operationalized as ≥100 adenomas in comparative guideline/review evidence (zare2025guidelinesforfamilial pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2, zare2025guidelinesforfamilial pages 4-4)
Attenuated FAP (AFAP, aFAP) Recognized milder allelic/clinical form Later onset, usually <100 adenomas, milder phenotype; APC-associated (kyriakidis2023updatedperspectiveson pages 2-4, kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 2-4)
APC-associated polyposis conditions Broader umbrella related to FAP Supported indirectly by evidence discussing APC-driven polyposis spectrum and APC-specific variants/promoter disease; exact formal label not retrieved in tool evidence (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Gardner syndrome Historical/phenotypic variant related to FAP Exact definition not retrieved in tool evidence; extracolonic features such as osteomas, dental abnormalities, skin lesions, and CHRPE are reported within FAP spectrum, consistent with historical Gardner terminology (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Turcot syndrome Historical overlap term Exact definition not retrieved in tool evidence; medulloblastoma is listed among extracolonic malignant risks in FAP, consistent with historical overlap usage (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2)

Table: This artifact summarizes disease identifiers explicitly supported by the gathered evidence and distinguishes between directly retrieved identifiers versus those not retrieved. The second table clarifies commonly used synonyms and historical related entities relevant to interpreting FAP literature and knowledge-base mapping.

Evidence source type note: The overview/identifier information above is derived from aggregated review/guideline-type resources plus some patient-level case series/case reports. (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2, alhassan2024surveillancecomplianceand pages 1-2)

2. Etiology

2.1 Disease causal factors

Primary cause (genetic): Germline pathogenic variants in APC (tumor suppressor) are the main cause of autosomal dominant FAP, with tumor initiation typically requiring a somatic “second hit” in the remaining functional allele, activating Wnt/β-catenin signaling. (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 2-4)

Direct abstract quote (mechanistic framing): A 2023 mechanistic review describes FAP as being “based on a loss of function mutation in adenomatous polyposis coli (APC), a tumor-suppressor gene, inherited following a Mendelian pattern.” (ditonno2023molecularpathwaysof pages 1-2)

2.2 Risk factors

Genetic risk factors

  • APC pathogenic variant location and phenotype: Classical FAP tends to be associated with truncating variants; mutation site influences phenotype severity, including extracolonic risks (eg, desmoids). (kyriakidis2023updatedperspectiveson pages 2-4, ditonno2023molecularpathwaysof pages 2-4)
  • De novo APC variants: Up to ~30% of APC pathogenic variants may occur de novo, contributing to apparently sporadic presentations. (joo2025geneticsgenomicsand pages 1-2)
  • Somatic (post-zygotic) mosaicism: Post-zygotic APC mosaicism is a clinically important cause of FAP-like phenotypes and complicates detection when only leukocyte DNA is tested. A 2024 systematic review/meta-analysis across CRC/polyposis syndromes (27 studies, 2272 patients) reported an overall mosaicism prevalence of 8.79% (95% CI 5.1–14.70%), and emphasized incorporating mosaicism screening into routine testing for at-risk patients. (moraes2024genomicmosaicismin pages 9-11)
  • Real-world diagnostic yield: In a Danish nationwide re-evaluation of “colorectal polyposis of unknown etiology” (>100 cumulative adenomas), adding WGS and mosaicism screening increased variant detection; pathogenic variants were detected in 16/27 families (60%), and the registry’s proportion of families with known etiology increased to 93%. (karstensen2024reevaluatingthegenotypes pages 1-2)

Environmental/lifestyle and other non-genetic contributors

Non-genetic contributors are increasingly discussed as potential modifiers/alternative mechanisms in multi-adenoma patients, including environmental factors and bacterial genotoxins (eg, colibactin-producing E. coli), but specific quantified gene–environment interactions were not retrieved in the evidence set used here. (joo2025geneticsgenomicsand pages 1-2)

2.3 Protective factors

Specific, validated protective lifestyle factors or protective genetic alleles were not quantified in the retrieved evidence. A 2025 cohort (postoperative patients) suggested procedural choices may reduce desmoid risk (see below). ()

2.4 Gene–environment interactions

The retrieved evidence notes that moderate-risk genes and inherited cancer risk may be influenced by gene–gene or gene–environment interactions in general (NCCN guideline discussion of multigene testing), but it does not provide FAP-specific interaction estimates. (hodan2024geneticfamilialhighriskassessment pages 6-7)

3. Phenotypes

3.1 Core phenotype spectrum (with HPO term suggestions)

A structured phenotype-to-HPO mapping (with only evidence-supported frequencies/risks) is provided below.

Phenotype HPO term (suggest) Evidence-based frequency/risk (with age if stated) Notes (onset/clinical relevance) Key citations (IDs)
Colorectal adenomatous polyposis HP:0002671 Colorectal polyposis Classic FAP: hundreds to thousands of adenomas; attenuated FAP: usually <100 adenomas; polyps typically begin in adolescence / late childhood Core defining phenotype of FAP; attenuated form has later onset and milder burden (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2, ditonno2023molecularpathwaysof pages 2-4)
Colorectal cancer HP:0003003 Colon carcinoma ~100% lifetime risk if untreated; near-certain CRC by ~50 years without prophylactic surgery; CRC around age 39 in one cited clinical summary Principal malignant consequence and rationale for prophylactic colectomy and early surveillance (kyriakidis2023updatedperspectiveson pages 1-2, alhassan2024surveillancecomplianceand pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Duodenal adenomas / duodenal cancer HP:0100837 Duodenal adenoma; HP:0006749 Duodenal carcinoma Duodenal cancer cumulative risk ~4.5% by age 57 years and ~18% by age 75 years Major extracolonic GI manifestation; upper GI surveillance is standard; European FAP Consortium recommends resection of duodenal adenomas ≥10 mm (kyriakidis2023updatedperspectiveson pages 1-2, aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)
Gastric polyposis / gastric cancer HP:0034390 Gastric polyposis; HP:0006753 Stomach carcinoma Upper GI polyps in ~50% (clinical summary); gastric cancer risk not quantified in retrieved evidence Fundic gland polyposis and gastric adenomas are recognized; recent concern about gastric cancer during surveillance, but numeric lifetime risk not quantified in retrieved evidence (alhassan2024surveillancecomplianceand pages 1-2, aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)
Desmoid tumors HP:0010302 Desmoid tumor 20% reported frequency in FAP; in a 2025 postoperative cohort, 21/202 (10.4%) developed intra-abdominal desmoids after surgery Often mesenteric/intra-abdominal; major cause of morbidity and important in surgical decision-making; risk linked to genotype and operative factors (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Congenital hypertrophy of retinal pigment epithelium (CHRPE) HP:0007759 Congenital hypertrophy of retinal pigment epithelium 60% Common extracolonic feature that may precede intestinal manifestations and aid recognition of APC-associated disease (kyriakidis2023updatedperspectiveson pages 1-2)
Osteomas HP:0002796 Osteoma 20% Classic extracolonic manifestation within the Gardner-spectrum phenotype of FAP (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Dental abnormalities HP:0100339 Abnormality of dentition not quantified in retrieved evidence Includes dental anomalies/supernumerary teeth in APC-associated disease; may precede intestinal polyposis and support early recognition (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
Thyroid cancer HP:0009726 Thyroid carcinoma 1%–2% (papillary thyroid carcinoma in cited review) Recognized extracolonic malignancy; often cited as papillary/cribriform-morular thyroid carcinoma in APC-associated disease (kyriakidis2023updatedperspectiveson pages 1-2, joo2025geneticsgenomicsand pages 1-2)
Hepatoblastoma HP:0002898 Hepatoblastoma 1%–2% Rare pediatric extracolonic malignancy associated with FAP/APC pathogenic variants (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 2-4)
Medulloblastoma HP:0002885 Medulloblastoma 1%–2% Rare CNS malignancy reported in the FAP spectrum; historically overlaps with Turcot terminology (kyriakidis2023updatedperspectiveson pages 1-2, joo2025geneticsgenomicsand pages 1-2)

Table: This table maps major familial adenomatous polyposis phenotypes to suggested HPO terms and summarizes only the frequencies or risks explicitly supported in the retrieved evidence. It is useful for building structured phenotype annotations for a disease knowledge base while preserving citation traceability.

3.2 Upper GI disease and emerging concern for gastric cancer

Upper GI manifestations (duodenal and gastric polyposis/adenomas) are major contributors to morbidity after colorectal risk reduction. A European FAP Consortium paper emphasizes improved upper-GI lesion detection (eg, using NBI/BLI to distinguish gastric adenomas among fundic gland polyps) and provides consensus thresholds for intervention. (aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)

3.3 Quality of life impact (evidence example)

A 2024 single-center cohort of surgically treated FAP patients in Saudi Arabia used SF-36 and reported mean domain scores above 60, while also documenting surveillance adherence gaps (see “Diagnostics/Screening” for implementation implications). (alhassan2024surveillancecomplianceand pages 1-2)

4. Genetic / molecular information

4.1 Causal genes

  • APC (tumor suppressor; central gatekeeper in colorectal tumorigenesis; Wnt signaling regulator). (ditonno2023molecularpathwaysof pages 1-2, ditonno2023molecularpathwaysof pages 2-4)

4.2 Pathogenic variant types and functional consequences

  • Many classical FAP germline variants are nonsense or frameshift truncating variants (reported in a 2023 mechanistic review as common, up to ~80% of cases in that review’s summary framing). (ditonno2023molecularpathwaysof pages 2-4)
  • Variant type/location influences residual APC function and thereby phenotype. (ditonno2023molecularpathwaysof pages 2-4)

4.3 Mosaicism and structural variants (diagnostic relevance)

  • Mosaicism detection can require analysis beyond blood (eg, adenoma tissue). (kyriakidis2023updatedperspectiveson pages 2-4, karstensen2024reevaluatingthegenotypes pages 1-2)
  • WGS can uncover structural variants missed by standard testing; in the Danish cohort, WGS identified additional APC structural variants. (karstensen2024reevaluatingthegenotypes pages 1-2)

4.4 Modifier genes and epigenetics

The retrieved evidence set references phenotypic variability and broader polyposis genetics, but does not provide a definitive, quantified list of FAP modifier genes or epigenetic signatures suitable for a curated knowledge base entry. (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 2-4)

5. Environmental information

Specific environmental exposures causally linked to FAP onset are not applicable in the same way as multifactorial diseases because FAP is primarily monogenic (APC). Environmental and microbial factors are discussed as potential contributors/modifiers of colorectal carcinogenesis and polyposis phenotype variability, but detailed exposure-specific statistics were not retrieved here. (joo2025geneticsgenomicsand pages 1-2, ditonno2023molecularpathwaysof pages 1-2)

6. Mechanism / pathophysiology

6.1 Canonical pathway: APC loss → Wnt/β-catenin activation → adenoma initiation

A key mechanistic chain in FAP is loss of APC function, disabling the β-catenin “destruction complex,” leading to nuclear β-catenin accumulation and transcriptional activation of proliferative programs. (ditonno2023molecularpathwaysof pages 2-4)

Upstream event: germline APC loss-of-function variant (first hit). Downstream events: somatic second hit in APC, adenoma formation, accumulation of additional driver events for carcinoma progression. (ditonno2023molecularpathwaysof pages 2-4)

6.2 “Two-hit” and “just-right” signaling concepts

The 2023 mechanistic review describes a Knudson two-hit model and summarizes evidence that the second hit may be selected to retain partial control of β-catenin signaling (“just-right” model), avoiding lethal overactivation while still promoting growth. (ditonno2023molecularpathwaysof pages 2-4)

6.3 Immune/microbiome/inflammation as modifiers (emerging themes)

Recent reviews highlight possible modifier mechanisms including gut microbiota changes, mucosal barrier immunity, immune microenvironment/inflammation, and hormonal factors (eg, estrogen) as potential chemoprevention targets, though this run did not retrieve specific multi-omics signatures for FAP. (ditonno2023molecularpathwaysof pages 1-2)

6.4 Suggested ontology terms

  • GO biological processes (suggest): Wnt signaling pathway (GO:0016055), regulation of β-catenin-mediated signaling (GO:1904888), regulation of cell proliferation (GO:0042127), epithelial cell proliferation (GO:0050673).
  • CL cell types (suggest): intestinal epithelial cell (CL:0000066), colonic epithelial cell (CL:0000584).

(These are ontology suggestions aligned to mechanisms described in retrieved sources; they are not explicitly enumerated in those sources.) (ditonno2023molecularpathwaysof pages 2-4)

7. Anatomical structures affected

7.1 Organ-level

  • Primary: colon and rectum (adenomatous polyposis; CRC risk). (kyriakidis2023updatedperspectiveson pages 1-2)
  • Major secondary GI sites: duodenum and stomach (adenomas/polyposis; cancer risks). (kyriakidis2023updatedperspectiveson pages 1-2, aelvoet2023personalizedendoscopicsurveillance pages 3-5)
  • Other extracolonic sites: thyroid, retina (CHRPE), mesentery/abdominal soft tissues (desmoids), bone/dentition. (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2)

7.2 UBERON term suggestions

  • Colon: UBERON:0001155
  • Rectum: UBERON:0001052
  • Duodenum: UBERON:0002114
  • Stomach: UBERON:0000945
  • Thyroid gland: UBERON:0002046

(Anatomy ontology suggestions; not explicitly provided in retrieved sources.)

8. Temporal development

8.1 Onset

Polyps commonly begin in late childhood/adolescence; one clinical summary reports typical polyp onset around age ~16 years. (alhassan2024surveillancecomplianceand pages 1-2)

8.2 Progression

Without prophylactic intervention, CRC can develop early; one clinical summary reports CRC around age ~39 years, and reviews emphasize near-certain CRC by ~50 years without surgery. (alhassan2024surveillancecomplianceand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2)

9. Inheritance and population

9.1 Inheritance

Autosomal dominant inheritance is consistently described, with high/near-complete penetrance for colorectal polyposis/CRC in the absence of intervention. (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)

9.2 Epidemiology (statistics)

  • Prevalence: ~2.29–3.2 per 100,000 (reported in 2023 reviews). (kyriakidis2023updatedperspectiveson pages 1-2, ditonno2023molecularpathwaysof pages 1-2)
  • Birth incidence: ~1 in 8,500 (reported in a 2025 review of adenomatous polyposis genetics). (joo2025geneticsgenomicsand pages 1-2)
  • Contribution to CRC burden: ≤0.5% to ~1% of CRC, depending on the source framing. (joo2025geneticsgenomicsand pages 1-2, kyriakidis2023updatedperspectiveson pages 1-2)

10. Diagnostics

10.1 Clinical criteria and endoscopy

FAP is clinically diagnosed by extensive adenoma burden (often operationalized as ≥100 colorectal adenomas), and/or by identification of a pathogenic/likely pathogenic APC variant. (kyriakidis2023updatedperspectiveson pages 2-4, zare2025guidelinesforfamilial pages 4-4)

10.2 Genetic testing strategies (current practice themes)

  • When familial APC variant known: single-site testing is recommended (as summarized in a 2023 clinical genetics review referencing NCCN). (kyriakidis2023updatedperspectiveson pages 2-4)
  • When etiology uncertain: multigene panels and, if negative, expanded approaches such as WGS and mosaicism assessment in adenomas can improve yield. (karstensen2024reevaluatingthegenotypes pages 1-2)

10.3 Screening and surveillance: recent real-world protocols and implementation

European FAP Consortium (2023) personalized endoscopic surveillance (real-world implementation)

The European FAP Consortium published consensus-based protocols for: * Lower GI surveillance in patients with ileorectal/ileosigmoid anastomosis (IRA/ISA) and ileal pouch-anal anastomosis (IPAA). (aelvoet2023personalizedendoscopicsurveillance pages 3-5) * Upper GI surveillance (duodenum and stomach) with intervention thresholds and variable surveillance intervals based on endoscopic findings. (aelvoet2023personalizedendoscopicsurveillance pages 5-6)

Intervention thresholds (explicit): endoscopic polypectomy/papillectomy indications include duodenal/ampullary adenomas ≥10 mm (or rapidly progressive ampullary lesion), gastric adenomas ≥5 mm, optical suspicion of HGD, and optional duodenal adenoma ≥5 mm when ≥20 duodenal adenomas are present. (aelvoet2023personalizedendoscopicsurveillance pages 3-5)

Visual evidence (flowcharts): * Lower GI post-surgical surveillance flowcharts (IRA/ISA and IPAA): (aelvoet2023personalizedendoscopicsurveillance media 06b7c6ab) * Upper GI duodenum/stomach surveillance flowchart: (aelvoet2023personalizedendoscopicsurveillance media 86c4e959)

Surveillance adherence (implementation gap)

A 2024 Saudi cohort study of surgically treated FAP patients reported incomplete adherence to recommended surveillance: 78% compliance for pre-operative colonoscopy and EGD, but 38% for initial and 27% for post-operative colonoscopy; thyroid ultrasound compliance was 14%. (alhassan2024surveillancecomplianceand pages 1-2)

NCCN 2024 guideline limitation in this run: Although the NCCN Version 3.2024 document was retrieved and includes extensive multigene testing guidance, this run did not retrieve the FAP-specific surveillance interval/timing tables from that document’s text chunks; therefore, NCCN-specific ages/intervals for FAP surveillance cannot be quoted verbatim from the evidence available here. (hodan2024geneticfamilialhighriskassessment pages 7-8, hodan2024geneticfamilialhighriskassessment pages 8-9, zare2025guidelinesforfamilial pages 4-4)

11. Outcome / prognosis

11.1 CRC risk

Untreated classic FAP is associated with near-certain CRC (often framed as ~100% lifetime CRC risk). (kyriakidis2023updatedperspectiveson pages 1-2, alhassan2024surveillancecomplianceand pages 1-2)

11.2 Desmoid morbidity

Desmoid tumors are a major morbidity driver. In a 2025 postoperative registry cohort (2000–2023; n=202 surgical patients), 21/202 (10.4%) developed intra-abdominal desmoids, and the authors concluded that a minimally invasive rectal-sparing colectomy “appears protective” for desmoid development. ()

12. Treatment

12.1 Surgical and interventional (standard of care)

Risk-reducing colorectal surgery (colectomy or proctocolectomy with reconstruction strategies such as IPAA vs IRA) is the mainstay to prevent CRC. Reviews emphasize prophylactic colectomy as the “gold-standard” risk reduction approach, typically completed by age ~40 in one 2023 review summary, while other sources describe prophylactic colectomy recommended in adolescence/young adulthood depending on phenotype. (kyriakidis2023updatedperspectiveson pages 1-2, alhassan2024surveillancecomplianceand pages 1-2)

12.2 Endoscopic management (emerging practice)

European FAP Consortium protocols formalize endoscopic removal thresholds and surveillance intervals aiming to prevent cancer while reducing surgical interventions, with prospective evaluation planned in a 5-year multi-center study. (aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)

12.3 Pharmacotherapy / chemoprevention (current evidence state)

Multiple chemopreventive agents have been studied (eg, aspirin, celecoxib, sulindac, DFMO-based combinations, erlotinib combinations, metformin, fish oil, turmeric, vitamin C), but a 2023 review concluded no agent yet meets criteria for a durable, safe, clinically meaningful long-term chemoprevention strategy in FAP. (kyriakidis2023updatedperspectiveson pages 10-12)

Pathway-targeting development: The same 2023 review highlights interest in targeting novel pathways including mTOR (eg, small pilot experiences with rapamycin/sirolimus showing reductions in polyp size/grade but with adverse events) and notes ongoing trials/strategies such as TUPELO (REC-4881; MAPK inhibitor) and obeticholic acid. (kyriakidis2023updatedperspectiveson pages 10-12)

12.4 MAXO term suggestions (treatment actions)

  • Prophylactic colectomy / proctocolectomy: MAXO:0001112 (surgical excision; term suggestion)
  • Endoscopic polypectomy: MAXO:0000016 (endoscopic resection; term suggestion)
  • Cancer surveillance (endoscopic): MAXO:0000127 (screening/surveillance; term suggestion)

(Ontology term suggestions; not explicitly enumerated in retrieved sources.)

13. Prevention

13.1 Secondary prevention (dominant strategy)

Early detection and removal of adenomas via endoscopic surveillance and prophylactic surgery is the dominant prevention strategy described across sources. (alhassan2024surveillancecomplianceand pages 1-2, aelvoet2023personalizedendoscopicsurveillance pages 3-5)

13.2 Tertiary prevention

Post-surgical surveillance of retained rectum/pouch and upper GI tract aims to prevent advanced neoplasia and manage adenoma burden. (aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)

14. Other species / natural disease

No naturally occurring FAP-equivalent disease in non-human species was retrieved in this evidence set.

15. Model organisms

Although APC-driven tumorigenesis is commonly studied in genetically engineered mouse models, this run did not retrieve a primary source within the evidence set that explicitly details specific model organism resources (eg, APC^Min/+ phenotypic recapitulation) in a citable way for this report.

Expert interpretation and evidence gaps (authoritative source synthesis)

A 2025 guideline-comparison review argues that most FAP management recommendations remain expert-consensus–driven due to the limited high-quality evidence base typical of rare diseases, and highlights ongoing disagreements (eg, adenoma thresholds and surveillance intensity across jurisdictions). (zare2025guidelinesforfamilial pages 1-2)

The European FAP Consortium’s 2023 surveillance strategy is an example of expert-driven standardization intended to be validated prospectively, reflecting a broader trend toward personalized surveillance and endoscopic intervention rather than relying solely on prophylactic colectomy. (aelvoet2023personalizedendoscopicsurveillance pages 3-5, aelvoet2023personalizedendoscopicsurveillance pages 5-6)

Reference URLs and publication dates (from retrieved sources)

  • Kyriakidis F. et al. “Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis.” The Application of Clinical Genetics (Aug 2023). https://doi.org/10.2147/tacg.s372241 (kyriakidis2023updatedperspectiveson pages 1-2)
  • Ditonno I. et al. “Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis.” Int J Mol Sci (Mar 2023). https://doi.org/10.3390/ijms24065687 (ditonno2023molecularpathwaysof pages 1-2)
  • Aelvoet A.S. et al. “Personalized endoscopic surveillance…” Endoscopy International Open (Jan 2023). https://doi.org/10.1055/a-2011-1933 (aelvoet2023personalizedendoscopicsurveillance pages 3-5)
  • Alhassan N. et al. “Surveillance Compliance and Quality of Life…” J Epidemiol Glob Health (Jan 2024). https://doi.org/10.1007/s44197-023-00171-8 (alhassan2024surveillancecomplianceand pages 1-2)
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