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1
Mappings
5
Pathophys.
5
Phenotypes
4
Genes
6
Treatments
3
Trials
15
References
1
Deep Research
🔗

Mappings

MONDO
MONDO:0004989 breast carcinoma
skos:closeMatch MONDO
Closest MONDO parent term available for metastatic breast carcinoma.

Pathophysiology

5
EMT-Driven Dissemination
Metastatic breast carcinoma acquires motile and invasive phenotypes through epithelial to mesenchymal transition and related plasticity programs. EMT reduces epithelial adhesion, increases migratory behavior, and facilitates escape from the primary tumor, intravasation, and colonization of distant tissue niches.
epithelial to mesenchymal transition link ↑ INCREASED cell migration link ↑ INCREASED positive regulation of cell migration link ↑ INCREASED
Show evidence (1 reference)
PMID:37386445 PARTIAL Human Clinical
"The metastasis of cancer cells from the primary tumor site to other organs in the body, notably the lungs, bones, brain, and liver, is what causes breast cancer to ultimately be fatal."
This supports the central role of distant dissemination and organotropism in lethal breast cancer.
Organ-Specific Tropism
Breast cancer metastases display seed-and-soil behavior, with preferential colonization of bone, lung, brain, and liver. This reflects both intrinsic tumor programs and permissive microenvironments, including osteotropic signaling in bone, vascular adaptation in lung, and blood-brain barrier traversal in brain metastasis.
cell migration link ↑ INCREASED
Show evidence (1 reference)
PMID:37386445 SUPPORT Human Clinical
"The metastasis of cancer cells from the primary tumor site to other organs in the body, notably the lungs, bones, brain, and liver, is what causes breast cancer to ultimately be fatal."
This directly supports the dominant distant sites highlighted in metastatic breast cancer.
ER and HER2 Receptor Heterogeneity
Intratumoral spatial heterogeneity in estrogen receptor (ER), progesterone receptor (PR), and HER2 expression occurs in a meaningful subset of breast tumors, with biomarker status differing between sampled regions of the same tumor. This heterogeneity affects breast cancer classification accuracy from biopsy sampling and has clinical implications for selecting endocrine and HER2-targeted therapy.
estrogen receptor signaling pathway link ⚠ ABNORMAL cell surface receptor protein tyrosine kinase signaling pathway link ⚠ ABNORMAL
Show evidence (1 reference)
PMID:27349894 SUPPORT Human Clinical
"Intratumoral biomarker heterogeneity may impact breast cancer classification accuracy, with implications for clinical management."
This supports clinically meaningful intratumoral ER/PR/HER2 heterogeneity within primary breast cancers, affecting biomarker-based classification and treatment selection.
Angiogenic Outgrowth
Successful metastatic colonization requires neovascular support both at the primary site and in distant lesions. Angiogenesis promotes survival of micrometastatic foci, sustains growth in bone and lung deposits, and supports blood-brain barrier adaptation in brain metastases.
angiogenesis link ↑ INCREASED
Immune Evasion in Metastatic Niches
Disseminated breast cancer cells evade immune elimination by remodeling cytokine gradients, recruiting suppressive myeloid and lymphoid populations, and adapting to organ-specific immune milieus. These programs help metastatic clones persist despite host antitumor surveillance and systemic therapy.
negative regulation of immune response link ↑ INCREASED

Phenotypes

5
Nervous System 1
Headache FREQUENT Headache (HP:0002315)
Respiratory 1
Dyspnea FREQUENT Dyspnea (HP:0002094)
Constitutional 2
Bone pain VERY_FREQUENT Bone pain (HP:0002653)
Fatigue VERY_FREQUENT Fatigue (HP:0012378)
Growth 1
Weight loss FREQUENT Weight loss (HP:0001824)
🧬

Genetic Associations

4
ESR1 (Acquired endocrine resistance mutation)
ERBB2 (HER2) (Amplification or overexpression)
PIK3CA (Somatic activating mutation)
TP53 (Somatic loss of function)
💊

Treatments

6
CDK4/6 Inhibitor Plus Endocrine Therapy
Action: Pharmacotherapy NCIT:C15986
Agent: palbociclib fulvestrant
HR-positive, HER2-negative metastatic breast carcinoma is commonly treated with endocrine therapy combined with a CDK4/6 inhibitor, using aromatase inhibitor or fulvestrant backbones selected by treatment history and resistance profile.
Show evidence (1 reference)
DOI:10.1007/s10549-024-07376-w SUPPORT Human Clinical
"Patients receiving 1st-line aromatase inhibitor + CDK4/6 inhibitor (n = 573) with ESR1mut had less favorable rwPFS and rwOS versus ESR1 wild-type; no differences were observed for fulvestrant + CDK4/6 inhibitor (n = 348)."
Real-world metastatic HR+/HER2- cohorts document aromatase-inhibitor and fulvestrant backbones paired with CDK4/6 inhibitors in first-line therapy.
Elacestrant Oral SERD for ESR1-Mutated Disease
Action: Pharmacotherapy NCIT:C15986
Agent: elacestrant
Elacestrant is an oral selective estrogen receptor degrader used after prior endocrine therapy for ER-positive, HER2-negative metastatic breast carcinoma with ESR1 mutations.
Show evidence (1 reference)
DOI:10.1200/jco.23.02112 SUPPORT Human Clinical
"The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with..."
FDA approval summary supports elacestrant for ESR1-mutated ER+/HER2- advanced or metastatic breast cancer after endocrine therapy.
Capivasertib Plus Fulvestrant for PI3K/AKT/PTEN-Altered Disease
Action: Pharmacotherapy NCIT:C15986
Agent: capivasertib fulvestrant
Capivasertib plus fulvestrant targets AKT-pathway dependence in HR-positive, HER2-negative metastatic breast carcinoma with PIK3CA, AKT1, or PTEN alterations after progression on endocrine therapy.
Show evidence (1 reference)
clinicaltrials:NCT04305496 SUPPORT Human Clinical
"Phase III, double-blind, randomised study assessing the efficacy of capivasertib + fulvestrant vs placebo + fulvestrant for the treatment of patients with locally advanced (inoperable) or metastatic HR+/HER2- breast cancer following recurrence or progression on or after AI therapy."
CAPItello-291 directly evaluates capivasertib plus fulvestrant in locally advanced or metastatic HR+/HER2- breast cancer after aromatase-inhibitor progression.
PARP Inhibitors for Germline BRCA-Mutated Disease
Action: targeted therapy Ontology label: Targeted Therapy NCIT:C93352
Agent: olaparib talazoparib
PARP inhibitors exploit homologous recombination deficiency in metastatic breast carcinoma with germline BRCA1 or BRCA2 pathogenic variants.
Show evidence (1 reference)
DOI:10.1038/s41416-024-02827-z SUPPORT Human Clinical
"BC resulting from a germline BRCAm (gBRCAm) has distinct clinical characteristics along with increased sensitivity to DNA-damaging agents such as poly(ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapies, and potentially decreased sensitivity to cyclin-dependent kinase 4..."
Review-level evidence supports PARP inhibitor sensitivity in germline BRCA-mutated breast cancer, including advanced-disease treatment planning.
Trastuzumab Deruxtecan for HER2-Positive or HER2-Low Disease
Action: immunotherapy Ontology label: Immunotherapy NCIT:C15262
Agent: trastuzumab deruxtecan
Trastuzumab deruxtecan is an antibody-drug conjugate used for metastatic breast carcinoma with HER2-positive or HER2-low expression after appropriate prior therapy.
Show evidence (1 reference)
DOI:10.3390/cancers17213505 SUPPORT Human Clinical
"Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile."
This review summarizes T-DXd benefit for advanced HER2-positive and HER2-low metastatic breast cancer.
Sacituzumab Govitecan Antibody-Drug Conjugate
Action: Pharmacotherapy NCIT:C15986
Agent: sacituzumab govitecan
Sacituzumab govitecan is a Trop-2-directed antibody-drug conjugate used for metastatic breast carcinoma after prior systemic therapy, including HR-positive/HER2-negative disease after multiple chemotherapy regimens.
Show evidence (1 reference)
clinicaltrials:NCT04639986 SUPPORT Human Clinical
"The goal of this study is to compare the study drug, sacituzumab govitecan-hziy, versus doctors' treatment of choice in participants with HR+/HER2- metastatic breast cancer (MBC) who have failed at least 2 prior chemotherapy regimens."
The phase 3 record supports sacituzumab govitecan evaluation in heavily pretreated HR+/HER2- metastatic breast cancer.
🌍

Environmental Factors

2
Obesity
Obesity increases inflammatory and endocrine signals that can promote recurrence and metastatic progression.
Alcohol exposure
Alcohol contributes to breast cancer risk and may amplify metastatic recurrence risk through endocrine and inflammatory effects.
🔬

Clinical Trials

3
CAPItello-291 PHASE_III ACTIVE_NOT_RECRUITING
Phase 3 randomized study of capivasertib plus fulvestrant versus placebo plus fulvestrant in locally advanced or metastatic HR+/HER2- breast cancer after recurrence or progression on aromatase-inhibitor therapy.
Show evidence (1 reference)
clinicaltrials:NCT04305496 SUPPORT Human Clinical
"Phase III, double-blind, randomised study assessing the efficacy of capivasertib + fulvestrant vs placebo + fulvestrant for the treatment of patients with locally advanced (inoperable) or metastatic HR+/HER2- breast cancer following recurrence or progression on or after AI therapy."
ClinicalTrials.gov summary establishes the CAPItello-291 regimen and metastatic HR+/HER2- population.
EMERALD PHASE_III COMPLETED
Phase 3 randomized trial of elacestrant monotherapy versus standard endocrine therapy options after progression on endocrine therapy plus a CDK4/6 inhibitor.
Show evidence (1 reference)
clinicaltrials:NCT03778931 SUPPORT Human Clinical
"This Phase 3 clinical study compares the efficacy and safety of elacestrant to the standard of care (SoC) options of fulvestrant or an aromatase inhibitor (AI) in women and men with breast cancer whose disease has advanced on at least one endocrine therapy including a CDK4/6 inhibitor in..."
ClinicalTrials.gov summary establishes the EMERALD comparator design after CDK4/6 inhibitor and endocrine therapy exposure.
Sacituzumab Govitecan Versus Treatment of Physician's Choice PHASE_III ACTIVE_NOT_RECRUITING
Phase 3 trial comparing sacituzumab govitecan-hziy with physician's choice chemotherapy in HR+/HER2- metastatic breast cancer after at least two prior chemotherapy regimens.
Show evidence (1 reference)
clinicaltrials:NCT04639986 SUPPORT Human Clinical
"The goal of this study is to compare the study drug, sacituzumab govitecan-hziy, versus doctors' treatment of choice in participants with HR+/HER2- metastatic breast cancer (MBC) who have failed at least 2 prior chemotherapy regimens."
ClinicalTrials.gov summary establishes the ADC comparator trial in heavily pretreated HR+/HER2- metastatic breast cancer.
{ }

Source YAML

click to show
name: Metastatic Breast Carcinoma
creation_date: '2026-03-28T21:00:00Z'
updated_date: '2026-05-09T19:42:12Z'
description: >-
  Metastatic breast carcinoma is advanced breast cancer that has disseminated beyond
  the breast and regional lymph nodes to distant organs, with particular tropism for
  bone, lung, brain, and liver. Metastatic competence emerges through epithelial to
  mesenchymal transition, collective and single-cell invasion, angiogenesis, immune
  evasion, and adaptation to organ-specific microenvironments. During dissemination,
  endocrine and HER2 pathway dependence may be retained, lost, or reconfigured through
  clonal selection and receptor discordance, creating clinically important differences
  between primary and metastatic lesions.
categories:
- Breast Cancer
- Metastatic Cancer
- Solid Tumor
parents:
- breast carcinoma
disease_term:
  preferred_term: metastatic breast carcinoma
  term:
    id: MONDO:0004989
    label: breast carcinoma
mappings:
  mondo_mappings:
  - term:
      id: MONDO:0004989
      label: breast carcinoma
    mapping_predicate: skos:closeMatch
    mapping_source: MONDO
    mapping_justification: Closest MONDO parent term available for metastatic breast carcinoma.
prevalence:
- population: Advanced breast cancer cohorts with brain metastasis
  percentage: 30
  notes: Brain metastases occur in up to 30% of advanced breast cancer cases.
  evidence:
  - reference: PMID:37386445
    reference_title: "Breast cancer brain metastasis: from etiology to state-of-the-art modeling."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Brain metastases occur in as many as 30% of patients with advanced breast cancer, and the 1-year survival rate of these patients is around 20%.
    explanation: This review summarizes the high burden of brain dissemination in advanced breast cancer.
- population: Swedish metastatic breast cancer cohort
  percentage: 46
  notes: The best 5-year survival in the cohort was observed in HER2-positive luminal disease.
  evidence:
  - reference: PMID:36138404
    reference_title: "Long-term treatment patterns and survival in metastatic breast cancer by intrinsic subtypes - an observational cohort study in Sweden."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The 5-year survival rate was highest for HER2+/Luminal (46%) patients, followed by Luminal B (29%), Luminal A (28%), HER2+/ER- (21%), and TNBC (7%).
    explanation: This provides subtype-stratified long-term survival data for metastatic breast cancer.
pathophysiology:
- name: EMT-Driven Dissemination
  description: >-
    Metastatic breast carcinoma acquires motile and invasive phenotypes through epithelial
    to mesenchymal transition and related plasticity programs. EMT reduces epithelial
    adhesion, increases migratory behavior, and facilitates escape from the primary
    tumor,
    intravasation, and colonization of distant tissue niches.
  evidence:
  - reference: PMID:37386445
    reference_title: "Breast cancer brain metastasis: from etiology to state-of-the-art modeling."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: The metastasis of cancer cells from the primary tumor site to other organs in the body, notably the lungs, bones, brain, and liver, is what causes breast cancer to ultimately be fatal.
    explanation: This supports the central role of distant dissemination and organotropism in lethal breast cancer.
  biological_processes:
  - preferred_term: epithelial to mesenchymal transition
    modifier: INCREASED
    term:
      id: GO:0001837
      label: epithelial to mesenchymal transition
  - preferred_term: cell migration
    modifier: INCREASED
    term:
      id: GO:0016477
      label: cell migration
  - preferred_term: positive regulation of cell migration
    modifier: INCREASED
    term:
      id: GO:0030335
      label: positive regulation of cell migration
- name: Organ-Specific Tropism
  description: >-
    Breast cancer metastases display seed-and-soil behavior, with preferential colonization
    of bone, lung, brain, and liver. This reflects both intrinsic tumor programs and
    permissive microenvironments, including osteotropic signaling in bone, vascular
    adaptation in lung, and blood-brain barrier traversal in brain metastasis.
  evidence:
  - reference: PMID:37386445
    reference_title: "Breast cancer brain metastasis: from etiology to state-of-the-art modeling."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The metastasis of cancer cells from the primary tumor site to other organs in the body, notably the lungs, bones, brain, and liver, is what causes breast cancer to ultimately be fatal.
    explanation: This directly supports the dominant distant sites highlighted in metastatic breast cancer.
  biological_processes:
  - preferred_term: cell migration
    modifier: INCREASED
    term:
      id: GO:0016477
      label: cell migration
- name: ER and HER2 Receptor Heterogeneity
  description: >-
    Intratumoral spatial heterogeneity in estrogen receptor (ER), progesterone receptor
    (PR),
    and HER2 expression occurs in a meaningful subset of breast tumors, with biomarker
    status
    differing between sampled regions of the same tumor. This heterogeneity affects
    breast
    cancer classification accuracy from biopsy sampling and has clinical implications
    for
    selecting endocrine and HER2-targeted therapy.
  evidence:
  - reference: PMID:27349894
    reference_title: "Intratumoral heterogeneity as a source of discordance in breast cancer biomarker classification."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Intratumoral biomarker heterogeneity may impact breast cancer classification accuracy, with implications for clinical management.
    explanation: This supports clinically meaningful intratumoral ER/PR/HER2 heterogeneity within primary breast cancers, affecting biomarker-based classification and treatment selection.
  biological_processes:
  - preferred_term: estrogen receptor signaling pathway
    modifier: ABNORMAL
    term:
      id: GO:0030520
      label: estrogen receptor signaling pathway
  - preferred_term: cell surface receptor protein tyrosine kinase signaling pathway
    modifier: ABNORMAL
    term:
      id: GO:0007169
      label: cell surface receptor protein tyrosine kinase signaling pathway
- name: Angiogenic Outgrowth
  description: >-
    Successful metastatic colonization requires neovascular support both at the primary
    site and in distant lesions. Angiogenesis promotes survival of micrometastatic
    foci,
    sustains growth in bone and lung deposits, and supports blood-brain barrier adaptation
    in brain metastases.
  biological_processes:
  - preferred_term: angiogenesis
    modifier: INCREASED
    term:
      id: GO:0001525
      label: angiogenesis
- name: Immune Evasion in Metastatic Niches
  description: >-
    Disseminated breast cancer cells evade immune elimination by remodeling cytokine
    gradients, recruiting suppressive myeloid and lymphoid populations, and adapting
    to
    organ-specific immune milieus. These programs help metastatic clones persist despite
    host antitumor surveillance and systemic therapy.
  biological_processes:
  - preferred_term: negative regulation of immune response
    modifier: INCREASED
    term:
      id: GO:0050777
      label: negative regulation of immune response
phenotypes:
- category: Neurologic
  name: Headache
  frequency: FREQUENT
  description: Brain metastases often present with headache from edema or mass effect.
  phenotype_term:
    preferred_term: Headache
    term:
      id: HP:0002315
      label: Headache
- category: Respiratory
  name: Dyspnea
  frequency: FREQUENT
  description: Dyspnea can reflect pulmonary metastases, pleural involvement, or treatment-related cardiopulmonary compromise.
  phenotype_term:
    preferred_term: Dyspnea
    term:
      id: HP:0002094
      label: Dyspnea
- category: Musculoskeletal
  name: Bone pain
  frequency: VERY_FREQUENT
  description: Bone-tropic metastases commonly produce pain, impending fracture risk, and spinal instability.
  phenotype_term:
    preferred_term: Bone pain
    term:
      id: HP:0002653
      label: Bone pain
- category: Constitutional
  name: Fatigue
  frequency: VERY_FREQUENT
  description: Fatigue reflects systemic inflammatory burden, anemia, treatment toxicity, and advanced metastatic disease.
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
- category: Constitutional
  name: Weight loss
  frequency: FREQUENT
  description: Progressive metastatic disease often causes anorexia, catabolism, and cancer-associated weight loss.
  phenotype_term:
    preferred_term: Weight loss
    term:
      id: HP:0001824
      label: Weight loss
treatments:
- name: CDK4/6 Inhibitor Plus Endocrine Therapy
  description: >-
    HR-positive, HER2-negative metastatic breast carcinoma is commonly treated
    with endocrine therapy combined with a CDK4/6 inhibitor, using aromatase
    inhibitor or fulvestrant backbones selected by treatment history and
    resistance profile.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: palbociclib
      term:
        id: CHEBI:85993
        label: palbociclib
    - preferred_term: fulvestrant
      term:
        id: CHEBI:31638
        label: fulvestrant
  evidence:
  - reference: DOI:10.1007/s10549-024-07376-w
    reference_title: 'Comprehensive genomic profiling of ESR1, PIK3CA, AKT1, and PTEN in HR(+)HER2(−) metastatic breast cancer: prevalence along treatment course and predictive value for endocrine therapy resistance in real-world practice'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Patients receiving 1st-line aromatase inhibitor + CDK4/6 inhibitor (n = 573) with ESR1mut had less favorable rwPFS and rwOS versus ESR1 wild-type; no differences were observed for fulvestrant + CDK4/6 inhibitor (n = 348).
    explanation: >-
      Real-world metastatic HR+/HER2- cohorts document aromatase-inhibitor and
      fulvestrant backbones paired with CDK4/6 inhibitors in first-line therapy.
- name: Elacestrant Oral SERD for ESR1-Mutated Disease
  description: >-
    Elacestrant is an oral selective estrogen receptor degrader used after prior
    endocrine therapy for ER-positive, HER2-negative metastatic breast carcinoma
    with ESR1 mutations.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: elacestrant
      term:
        id: CHEBI:229213
        label: elacestrant
  evidence:
  - reference: DOI:10.1200/jco.23.02112
    reference_title: 'US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with disease progression after at least one line of endocrine therapy (ET).
    explanation: FDA approval summary supports elacestrant for ESR1-mutated ER+/HER2- advanced or metastatic breast cancer after endocrine therapy.
- name: Capivasertib Plus Fulvestrant for PI3K/AKT/PTEN-Altered Disease
  description: >-
    Capivasertib plus fulvestrant targets AKT-pathway dependence in HR-positive,
    HER2-negative metastatic breast carcinoma with PIK3CA, AKT1, or PTEN
    alterations after progression on endocrine therapy.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: capivasertib
      term:
        id: CHEBI:229222
        label: capivasertib
    - preferred_term: fulvestrant
      term:
        id: CHEBI:31638
        label: fulvestrant
  evidence:
  - reference: clinicaltrials:NCT04305496
    reference_title: "A Phase III Double-blind Randomised Study Assessing the Efficacy and Safety of Capivasertib + Fulvestrant Versus Placebo + Fulvestrant as Treatment for Locally Advanced (Inoperable) or Metastatic Hormone Receptor Positive, Human Epidermal Growth Factor Receptor 2 Negative (HR+/HER2-) Breast Cancer Following Recurrence or Progression On or After Treatment With an Aromatase Inhibitor"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Phase III, double-blind, randomised study assessing the efficacy of capivasertib + fulvestrant vs placebo + fulvestrant for the treatment of patients with locally advanced (inoperable) or metastatic HR+/HER2- breast cancer following recurrence or progression on or after AI therapy.
    explanation: CAPItello-291 directly evaluates capivasertib plus fulvestrant in locally advanced or metastatic HR+/HER2- breast cancer after aromatase-inhibitor progression.
- name: PARP Inhibitors for Germline BRCA-Mutated Disease
  description: >-
    PARP inhibitors exploit homologous recombination deficiency in metastatic
    breast carcinoma with germline BRCA1 or BRCA2 pathogenic variants.
  treatment_term:
    preferred_term: targeted therapy
    term:
      id: NCIT:C93352
      label: Targeted Therapy
    therapeutic_agent:
    - preferred_term: olaparib
      term:
        id: CHEBI:83766
        label: olaparib
    - preferred_term: talazoparib
      term:
        id: CHEBI:231344
        label: talazoparib
  evidence:
  - reference: DOI:10.1038/s41416-024-02827-z
    reference_title: 'BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: BC resulting from a germline BRCAm (gBRCAm) has distinct clinical characteristics along with increased sensitivity to DNA-damaging agents such as poly(ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapies, and potentially decreased sensitivity to cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors.
    explanation: Review-level evidence supports PARP inhibitor sensitivity in germline BRCA-mutated breast cancer, including advanced-disease treatment planning.
- name: Trastuzumab Deruxtecan for HER2-Positive or HER2-Low Disease
  description: >-
    Trastuzumab deruxtecan is an antibody-drug conjugate used for metastatic
    breast carcinoma with HER2-positive or HER2-low expression after appropriate
    prior therapy.
  treatment_term:
    preferred_term: immunotherapy
    term:
      id: NCIT:C15262
      label: Immunotherapy
    therapeutic_agent:
    - preferred_term: trastuzumab deruxtecan
      term:
        id: NCIT:C128799
        label: Trastuzumab Deruxtecan
  evidence:
  - reference: DOI:10.3390/cancers17213505
    reference_title: 'Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile.
    explanation: This review summarizes T-DXd benefit for advanced HER2-positive and HER2-low metastatic breast cancer.
- name: Sacituzumab Govitecan Antibody-Drug Conjugate
  description: >-
    Sacituzumab govitecan is a Trop-2-directed antibody-drug conjugate used for
    metastatic breast carcinoma after prior systemic therapy, including
    HR-positive/HER2-negative disease after multiple chemotherapy regimens.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: sacituzumab govitecan
      term:
        id: NCIT:C102783
        label: Sacituzumab Govitecan
  evidence:
  - reference: clinicaltrials:NCT04639986
    reference_title: "A Phase 3 Asian Study of Sacituzumab Govitecan (IMMU-132) Versus Treatment of Physician's Choice (TPC) in Subjects With Hormonal Receptor-positive (HR+)/Human Epidermal Growth Factor Receptor 2 Negative (HER2-) Metastatic Breast Cancer (MBC) Who Have Failed at Least 2 Prior Chemotherapy Regimens"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The goal of this study is to compare the study drug, sacituzumab govitecan-hziy, versus doctors' treatment of choice in participants with HR+/HER2- metastatic breast cancer (MBC) who have failed at least 2 prior chemotherapy regimens.
    explanation: The phase 3 record supports sacituzumab govitecan evaluation in heavily pretreated HR+/HER2- metastatic breast cancer.
clinical_trials:
- name: CAPItello-291
  phase: PHASE_III
  status: ACTIVE_NOT_RECRUITING
  description: >-
    Phase 3 randomized study of capivasertib plus fulvestrant versus placebo plus
    fulvestrant in locally advanced or metastatic HR+/HER2- breast cancer after
    recurrence or progression on aromatase-inhibitor therapy.
  evidence:
  - reference: clinicaltrials:NCT04305496
    reference_title: "A Phase III Double-blind Randomised Study Assessing the Efficacy and Safety of Capivasertib + Fulvestrant Versus Placebo + Fulvestrant as Treatment for Locally Advanced (Inoperable) or Metastatic Hormone Receptor Positive, Human Epidermal Growth Factor Receptor 2 Negative (HR+/HER2-) Breast Cancer Following Recurrence or Progression On or After Treatment With an Aromatase Inhibitor"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Phase III, double-blind, randomised study assessing the efficacy of capivasertib + fulvestrant vs placebo + fulvestrant for the treatment of patients with locally advanced (inoperable) or metastatic HR+/HER2- breast cancer following recurrence or progression on or after AI therapy.
    explanation: ClinicalTrials.gov summary establishes the CAPItello-291 regimen and metastatic HR+/HER2- population.
- name: EMERALD
  phase: PHASE_III
  status: COMPLETED
  description: >-
    Phase 3 randomized trial of elacestrant monotherapy versus standard endocrine
    therapy options after progression on endocrine therapy plus a CDK4/6
    inhibitor.
  evidence:
  - reference: clinicaltrials:NCT03778931
    reference_title: "Elacestrant Monotherapy vs. Standard of Care for the Treatment of Patients With ER+/HER2- Advanced Breast Cancer Following CDK4/6 Inhibitor Therapy: A Phase 3 Randomized, Open-label, Active-controlled, Multicenter Trial"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: This Phase 3 clinical study compares the efficacy and safety of elacestrant to the standard of care (SoC) options of fulvestrant or an aromatase inhibitor (AI) in women and men with breast cancer whose disease has advanced on at least one endocrine therapy including a CDK4/6 inhibitor in combination with fulvestrant or an aromatase inhibitor (AI).
    explanation: ClinicalTrials.gov summary establishes the EMERALD comparator design after CDK4/6 inhibitor and endocrine therapy exposure.
- name: Sacituzumab Govitecan Versus Treatment of Physician's Choice
  phase: PHASE_III
  status: ACTIVE_NOT_RECRUITING
  description: >-
    Phase 3 trial comparing sacituzumab govitecan-hziy with physician's choice
    chemotherapy in HR+/HER2- metastatic breast cancer after at least two prior
    chemotherapy regimens.
  evidence:
  - reference: clinicaltrials:NCT04639986
    reference_title: "A Phase 3 Asian Study of Sacituzumab Govitecan (IMMU-132) Versus Treatment of Physician's Choice (TPC) in Subjects With Hormonal Receptor-positive (HR+)/Human Epidermal Growth Factor Receptor 2 Negative (HER2-) Metastatic Breast Cancer (MBC) Who Have Failed at Least 2 Prior Chemotherapy Regimens"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The goal of this study is to compare the study drug, sacituzumab govitecan-hziy, versus doctors' treatment of choice in participants with HR+/HER2- metastatic breast cancer (MBC) who have failed at least 2 prior chemotherapy regimens.
    explanation: ClinicalTrials.gov summary establishes the ADC comparator trial in heavily pretreated HR+/HER2- metastatic breast cancer.
genetic:
- name: ESR1
  association: Acquired endocrine resistance mutation
  notes: >-
    ESR1 ligand-binding domain mutations emerge during metastatic endocrine therapy
    and
    permit ligand-independent ER signaling.
- name: ERBB2 (HER2)
  association: Amplification or overexpression
  notes: >-
    HER2 amplification supports aggressive dissemination and remains a major therapeutic
    dependency in a subset of metastatic lesions.
- name: PIK3CA
  association: Somatic activating mutation
  notes: >-
    PIK3CA hotspot mutations promote survival signaling, metastatic fitness, and partial
    resistance to endocrine and HER2-directed therapies.
- name: TP53
  association: Somatic loss of function
  notes: >-
    TP53 disruption facilitates genomic instability and metastatic clonal evolution,
    especially
    in aggressive HER2-positive and triple-negative disease.
environmental:
- name: Obesity
  notes: Obesity increases inflammatory and endocrine signals that can promote recurrence and metastatic progression.
- name: Alcohol exposure
  notes: Alcohol contributes to breast cancer risk and may amplify metastatic recurrence risk through endocrine and inflammatory effects.
notes: >-
  Requested NCIT cross-reference: NCIT:C153238. This entry uses MONDO:0004989
  (breast carcinoma) as the structured disease term because the current schema
  only provides explicit MONDO mapping slots. The dominant metastatic biology is
  driven by EMT, receptor plasticity, angiogenesis, immune evasion, and organotropism
  to bone, lung, brain, and liver.
references:
- reference: clinicaltrials:NCT04305496
  title: A Phase III Double-blind Randomised Study Assessing the Efficacy and Safety of Capivasertib + Fulvestrant Versus Placebo + Fulvestrant as Treatment for Locally Advanced (Inoperable) or Metastatic Hormone Receptor Positive, Human Epidermal Growth Factor Receptor 2 Negative (HR+/HER2-) Breast Cancer Following Recurrence or Progression On or After Treatment With an Aromatase Inhibitor
  findings: []
- reference: clinicaltrials:NCT03778931
  title: 'Elacestrant Monotherapy vs. Standard of Care for the Treatment of Patients With ER+/HER2- Advanced Breast Cancer Following CDK4/6 Inhibitor Therapy: A Phase 3 Randomized, Open-label, Active-controlled, Multicenter Trial'
  findings: []
- reference: clinicaltrials:NCT04639986
  title: A Phase 3 Asian Study of Sacituzumab Govitecan (IMMU-132) Versus Treatment of Physician's Choice (TPC) in Subjects With Hormonal Receptor-positive (HR+)/Human Epidermal Growth Factor Receptor 2 Negative (HER2-) Metastatic Breast Cancer (MBC) Who Have Failed at Least 2 Prior Chemotherapy Regimens
  findings: []
- reference: DOI:10.1007/s10549-024-07376-w
  title: 'Comprehensive genomic profiling of ESR1, PIK3CA, AKT1, and PTEN in HR(+)HER2(−) metastatic breast cancer: prevalence along treatment course and predictive value for endocrine therapy resistance in real-world practice'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA).
    supporting_text: The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA).
    evidence:
    - reference: DOI:10.1007/s10549-024-07376-w
      reference_title: 'Comprehensive genomic profiling of ESR1, PIK3CA, AKT1, and PTEN in HR(+)HER2(−) metastatic breast cancer: prevalence along treatment course and predictive value for endocrine therapy resistance in real-world practice'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA).
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.1007/s10549-024-07469-6
  title: 'Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: 'Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer'
    supporting_text: 'Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer'
- reference: DOI:10.1016/j.esmoop.2024.104083
  title: 'Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: 'Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study'
    supporting_text: 'Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study'
- reference: DOI:10.1038/s41591-024-03269-z
  title: 'Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: 'Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial'
    supporting_text: 'Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial'
- reference: DOI:10.1038/s41598-025-12883-x
  title: Patterns and prognostic implications of distant metastasis in breast Cancer based on SEER population data
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited.
    supporting_text: Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited.
    evidence:
    - reference: DOI:10.1038/s41598-025-12883-x
      reference_title: Patterns and prognostic implications of distant metastasis in breast Cancer based on SEER population data
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.1056/nejmoa2214131
  title: Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer
    supporting_text: Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer
- reference: DOI:10.1186/s12885-025-14786-6
  title: Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in US electronic health record data
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in US electronic health record data
    supporting_text: There are limited real-world data on the prevalence of brain metastases (BM) in metastatic breast cancer (mBC) across the treatment pathway, especially when stratified by human epidermal growth factor receptor 2–positive (HER2+) or HER2–negative (HER2−) status.
    evidence:
    - reference: DOI:10.1186/s12885-025-14786-6
      reference_title: Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in US electronic health record data
      supports: SUPPORT
      evidence_source: OTHER
      snippet: There are limited real-world data on the prevalence of brain metastases (BM) in metastatic breast cancer (mBC) across the treatment pathway, especially when stratified by human epidermal growth factor receptor 2–positive (HER2+) or HER2–negative (HER2−) status.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.1200/jco.23.02112
  title: 'US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: 'US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer'
    supporting_text: The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with disease progression after at least one line of endocrine therapy (ET).
    evidence:
    - reference: DOI:10.1200/jco.23.02112
      reference_title: 'US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with disease progression after at least one line of endocrine therapy (ET).
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.33590/oncolamj/ctrc4560
  title: 'Updates in Advanced Hormone Receptor-Positive Breast Cancer: From Circulating Tumor DNA-Guided Therapy to Precision Medicine'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies.
    supporting_text: The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies.
    evidence:
    - reference: DOI:10.33590/oncolamj/ctrc4560
      reference_title: 'Updates in Advanced Hormone Receptor-Positive Breast Cancer: From Circulating Tumor DNA-Guided Therapy to Precision Medicine'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.3389/fendo.2023.1184895
  title: 'Patterns of de novo metastasis and survival outcomes by age in breast cancer patients: a SEER population-based study'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: The role of age in metastatic disease, including breast cancer, remains obscure.
    supporting_text: The role of age in metastatic disease, including breast cancer, remains obscure.
    evidence:
    - reference: DOI:10.3389/fendo.2023.1184895
      reference_title: 'Patterns of de novo metastasis and survival outcomes by age in breast cancer patients: a SEER population-based study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The role of age in metastatic disease, including breast cancer, remains obscure.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.3390/cancers17213505
  title: 'Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies'
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: 'Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies'
    supporting_text: Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile.
    evidence:
    - reference: DOI:10.3390/cancers17213505
      reference_title: 'Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
- reference: DOI:10.3390/curroncol32010001
  title: The Real-World Clinical Outcomes of Heavily Pretreated HER2+ and HER2-Low Metastatic Breast Cancer Patients Treated with Trastuzumab Deruxtecan at a Single Centre
  found_in:
  - Metastatic_Breast_Carcinoma-deep-research-falcon.md
  findings:
  - statement: Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer.
    supporting_text: Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer.
    evidence:
    - reference: DOI:10.3390/curroncol32010001
      reference_title: The Real-World Clinical Outcomes of Heavily Pretreated HER2+ and HER2-Low Metastatic Breast Cancer Patients Treated with Trastuzumab Deruxtecan at a Single Centre
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer.
      explanation: Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
📚

References & Deep Research

References

15
A Phase III Double-blind Randomised Study Assessing the Efficacy and Safety of Capivasertib + Fulvestrant Versus Placebo + Fulvestrant as Treatment for Locally Advanced (Inoperable) or Metastatic Hormone Receptor Positive, Human Epidermal Growth Factor Receptor 2 Negative (HR+/HER2-) Breast Cancer Following Recurrence or Progression On or After Treatment With an Aromatase Inhibitor
No top-level findings curated for this source.
Elacestrant Monotherapy vs. Standard of Care for the Treatment of Patients With ER+/HER2- Advanced Breast Cancer Following CDK4/6 Inhibitor Therapy: A Phase 3 Randomized, Open-label, Active-controlled, Multicenter Trial
No top-level findings curated for this source.
A Phase 3 Asian Study of Sacituzumab Govitecan (IMMU-132) Versus Treatment of Physician's Choice (TPC) in Subjects With Hormonal Receptor-positive (HR+)/Human Epidermal Growth Factor Receptor 2 Negative (HER2-) Metastatic Breast Cancer (MBC) Who Have Failed at Least 2 Prior Chemotherapy Regimens
No top-level findings curated for this source.
Comprehensive genomic profiling of ESR1, PIK3CA, AKT1, and PTEN in HR(+)HER2(−) metastatic breast cancer: prevalence along treatment course and predictive value for endocrine therapy resistance in real-world practice
1 finding
The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA).
"The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA)."
Show evidence (1 reference)
DOI:10.1007/s10549-024-07376-w SUPPORT Human Clinical
"The treatment landscape for HR(+)HER2(−) metastatic breast cancer (MBC) is evolving for patients with ESR1 mutations (mut) and PI3K/AKT pathway genomic alterations (GA)."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer
1 finding
Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer
"Trends in HR+ metastatic breast cancer survival before and after CDK4/6 inhibitor introduction in the United States: a SEER registry analysis of patients with HER2− and HER2+ metastatic breast cancer"
Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study
1 finding
Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study
"Use and outcomes of trastuzumab deruxtecan in HER2-positive and HER2-low metastatic breast cancer in a real-world setting: a nationwide cohort study"
Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial
1 finding
Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial
"Sacituzumab govitecan in HR+HER2− metastatic breast cancer: the randomized phase 3 EVER-132-002 trial"
Patterns and prognostic implications of distant metastasis in breast Cancer based on SEER population data
1 finding
Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited.
"Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited."
Show evidence (1 reference)
DOI:10.1038/s41598-025-12883-x SUPPORT Human Clinical
"Distant metastasis remains the leading cause of mortality in breast cancer, yet comprehensive population-based evaluations of metastatic site combinations and their survival implications are limited."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer
1 finding
Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer
"Capivasertib in Hormone Receptor–Positive Advanced Breast Cancer"
Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in US electronic health record data
1 finding
Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in US electronic health record data
"There are limited real-world data on the prevalence of brain metastases (BM) in metastatic breast cancer (mBC) across the treatment pathway, especially when stratified by human epidermal growth factor receptor 2–positive (HER2+) or HER2–negative (HER2−) status."
Show evidence (1 reference)
"There are limited real-world data on the prevalence of brain metastases (BM) in metastatic breast cancer (mBC) across the treatment pathway, especially when stratified by human epidermal growth factor receptor 2–positive (HER2+) or HER2–negative (HER2−) status."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer
1 finding
US Food and Drug Administration Approval Summary: Elacestrant for Estrogen Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative, <i>ESR1</i>-Mutated Advanced or Metastatic Breast Cancer
"The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with..."
Show evidence (1 reference)
DOI:10.1200/jco.23.02112 SUPPORT Human Clinical
"The US Food and Drug Administration (FDA) approved elacestrant for the treatment of postmenopausal women or adult men with estrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2–), estrogen receptor 1 ( ESR1)–mutated advanced or metastatic breast cancer with..."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
Updates in Advanced Hormone Receptor-Positive Breast Cancer: From Circulating Tumor DNA-Guided Therapy to Precision Medicine
1 finding
The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies.
"The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies."
Show evidence (1 reference)
DOI:10.33590/oncolamj/ctrc4560 SUPPORT Human Clinical
"The therapeutic landscape for hormone receptor-positive (HR+) advanced breast cancer (BC) is moving from generalized endocrine therapies to highly targeted, biomarker-driven strategies."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
Patterns of de novo metastasis and survival outcomes by age in breast cancer patients: a SEER population-based study
1 finding
The role of age in metastatic disease, including breast cancer, remains obscure.
"The role of age in metastatic disease, including breast cancer, remains obscure."
Show evidence (1 reference)
DOI:10.3389/fendo.2023.1184895 SUPPORT Human Clinical
"The role of age in metastatic disease, including breast cancer, remains obscure."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies
1 finding
Trastuzumab–Deruxtecan for the Treatment of Metastatic Breast Cancer Patients: Data from Real World Studies
"Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile."
Show evidence (1 reference)
DOI:10.3390/cancers17213505 SUPPORT Human Clinical
"Trastuzumab–deruxtecan (T-DXd), a new-generation antibody drug conjugate, has greatly improved the survival and clinical benefit rates of patients affected by advanced HER2-positive/HER2-low breast cancer according to the results of controlled clinical trials with a manageable safety profile."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.
The Real-World Clinical Outcomes of Heavily Pretreated HER2+ and HER2-Low Metastatic Breast Cancer Patients Treated with Trastuzumab Deruxtecan at a Single Centre
1 finding
Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer.
"Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer."
Show evidence (1 reference)
DOI:10.3390/curroncol32010001 SUPPORT Human Clinical
"Trastuzumab deruxtecan (TDXd) is an antibody–drug conjugate that has demonstrated impressive activity in randomized controlled clinical trials in the context of patients with HER2-amplified and HER2-low metastatic breast cancer."
Deep research cited this publication as relevant literature for Metastatic Breast Carcinoma.

Deep Research

1
Falcon
Metastatic Breast Carcinoma (Metastatic Breast Cancer): Disease Characteristics Research Report
Edison Scientific Literature 29 citations 2026-05-09T12:41:04.755620

Metastatic Breast Carcinoma (Metastatic Breast Cancer): Disease Characteristics Research Report

Scope and evidence note: This report is limited to sources successfully retrieved in the tool run. Several requested ontology identifiers (e.g., specific MONDO term for metastatic breast carcinoma, ICD-10/ICD-11 codes, MeSH tree numbers) were not directly retrievable from the available corpus; where absent, this is stated explicitly.

Target disease

  • Disease name: Metastatic breast carcinoma (metastatic breast cancer; stage IV breast cancer)
  • Category: Malignant neoplasm (carcinoma) with distant metastasis
  • MONDO ID: Not confirmed for the specific entity “metastatic breast carcinoma” in the retrieved sources. (The OpenTargets query returned MONDO_0007254 for “breast cancer” rather than a metastatic-specific MONDO term.) (OpenTargets Search: metastatic breast carcinoma)

1. Disease information

1.1 Definition and current understanding

Metastatic breast carcinoma refers to breast carcinoma that has spread beyond the breast and regional lymph nodes to distant organs (distant metastasis). It is clinically aligned with stage IV breast cancer, including both de novo metastatic disease (metastatic at first diagnosis) and recurrent metastatic disease (metastasis after earlier-stage treatment). Population-based analyses use SEER “distant metastasis” indicators and commonly track organ sites including bone, lung, liver, and brain (zhang2025patternsandprognostic pages 1-2, zhang2025patternsandprognostic pages 2-4).

1.2 Synonyms / alternative names

Commonly used synonyms in the retrieved literature include: - metastatic breast cancer (mBC) - de novo metastatic breast cancer - stage IV breast cancer - advanced breast cancer (often includes locally advanced + metastatic; context dependent) (OpenTargets Search: metastatic breast carcinoma, varghese2025epidemiologyandoutcomes pages 1-2)

1.3 Key identifiers

  • MONDO: not confirmed for metastatic-specific entity from retrieved sources (see Scope note).
  • MeSH/ICD-10/ICD-11/OMIM/Orphanet: not retrieved in this run.

1.4 Evidence source types represented

  • Aggregated registry data: SEER population studies of de novo metastatic disease and metastatic patterns (OpenTargets Search: metastatic breast carcinoma, zhang2025patternsandprognostic pages 8-10, zhang2025patternsandprognostic pages 1-2).
  • Aggregated EHR real-world data: Flatiron Health EHR cohort for brain metastases outcomes (varghese2025epidemiologyandoutcomes pages 1-2).
  • Randomized controlled trials (RCTs): CAPItello-291, EVER-132-002; summarized directly from primary publications/figures (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1, evangelou2025updatesinadvanced pages 3-4).
  • Regulatory science: FDA approval summary for elacestrant (shah2024usfoodand pages 1-2).
  • Real-world observational cohorts: nationwide French cohort and single-center series for trastuzumab deruxtecan (T-DXd) (jourdain2024useandoutcomes pages 1-2, lazaratos2024therealworldclinical pages 1-2).

2. Etiology

Metastatic breast carcinoma represents progression of breast carcinoma via biological programs enabling invasion, dissemination, and colonization of distant sites. In the retrieved corpus, etiology is most directly addressed through genomic correlates of endocrine resistance and treatment-driven selection.

2.1 Disease causal factors (mechanistic/biologic)

A central mechanistic theme in HR+/HER2− metastatic disease is endocrine therapy resistance associated with acquired ESR1 mutations (shah2024usfoodand pages 1-2, bhave2024comprehensivegenomicprofiling pages 1-2).

2.2 Risk factors for metastasis / progression (from retrieved evidence)

  • Age and survival gradient in de novo metastatic disease: In a SEER analysis of de novo metastatic breast cancer (2010–2019), 5-year OS declined with age: ≤40 years 42.1%, 41–60 years 34.8%, 61–80 years 28.3%, >80 years 11.8% (OpenTargets Search: metastatic breast carcinoma).
  • Metastatic burden and site pattern: In SEER-based metastatic patterning, multi-organ metastasis—particularly combinations including brain—was associated with the worst survival (e.g., liver+lung+brain median OS 4.0 months) (zhang2025patternsandprognostic pages 1-2, zhang2025patternsandprognostic pages 6-8).

2.3 Protective factors

Not directly retrievable from the available sources.

2.4 Gene–environment interactions

Not directly retrievable from the available sources.

3. Phenotypes

3.1 Common metastatic sites and frequencies

SEER-based patterning (2014–2023) reports that among metastatic cases, bone was most common (21.3%), followed by lung (16.1%), liver (9.2%), and brain (2.9%) (zhang2025patternsandprognostic pages 1-2). In the same dataset, specific metastatic patterns had reported median OS values, e.g., bone-only 16.0 months, lung-only 14.0, liver-only 12.0, brain-only 5.0 (zhang2025patternsandprognostic pages 6-8).

Brain metastases are a clinically important complication: an EHR-derived cohort study emphasizes prevalence and survival penalties associated with brain metastases, including lower median OS among patients with brain metastases versus those without (varghese2025epidemiologyandoutcomes pages 1-2).

3.2 Phenotype characteristics (onset, progression, frequency)

  • Onset: Metastatic disease may be present at diagnosis (de novo stage IV) or emerge after earlier-stage treatment; the SEER de novo metastatic cohort comprised 24,155 patients (4.4% of all patients) diagnosed 2010–2019 (OpenTargets Search: metastatic breast carcinoma).
  • Progression/organotropism by subtype: Molecular subtypes show distinct organotropism; HR+/HER2− tumors are more prone to bone-only metastasis, whereas HER2-positive and triple-negative subtypes are more likely to involve visceral and brain metastases (zhang2025patternsandprognostic pages 1-2).

3.3 Quality-of-life impact

Direct patient-reported outcome instruments (e.g., EQ-5D, SF-36) were not retrievable in the available sources. However, brain metastases are noted to be associated with worse outcomes and limited uptake of guideline-recommended systemic therapies in practice, suggesting substantial morbidity and care gaps (varghese2025epidemiologyandoutcomes pages 1-2).

3.4 Suggested HPO terms (examples)

Because HPO mappings were not present explicitly in retrieved sources, the following are suggested mappings consistent with metastatic patterns and clinical manifestations: - Metastatic lesion / distant metastasis: Metastatic neoplasm (HP:0003002; candidate) - Bone metastasis-related: bone pain (HP:0002653; candidate), pathological fracture (HP:0002756; candidate) - Lung metastasis-related: dyspnea (HP:0002094; candidate) - Liver metastasis-related: hepatomegaly (HP:0002240; candidate), abnormal liver function tests (HP:0002910; candidate) - Brain metastasis-related: headache (HP:0002315; candidate), seizures (HP:0001250; candidate), focal neurologic deficits (broad)

(These are ontology suggestions; frequencies for each symptom were not available in the retrieved literature.)

4. Genetic / molecular information

4.1 Actionable and recurrent alterations highlighted in retrieved evidence

ESR1 (endocrine resistance)

  • FDA approval summary describes elacestrant for ER+/HER2−, ESR1-mutated advanced/metastatic breast cancer after progression on endocrine therapy (shah2024usfoodand pages 1-2).
  • The FDA summary states EMERALD included 228 ESR1-mutated patients and demonstrated PFS benefit in ESR1-mutant subgroup (HR 0.55) (shah2024usfoodand pages 1-2).

PI3K/AKT/PTEN axis (endocrine resistance and targeted therapy)

  • CAPItello-291 evaluates AKT inhibition (capivasertib) added to fulvestrant, motivated by the concept that “AKT pathway activation is implicated in endocrine-therapy resistance” (abstract background) (turner2023capivasertibinhormone media c3df1a43).
  • In a real-world comprehensive genomic profiling study, ~60% of HR+/HER2− metastatic cases in 1st line harbored ≥1 alteration among ESR1/PIK3CA/AKT1/PTEN when measured by tissue biopsy or liquid biopsy with sufficient ctDNA tumor fraction (bhave2024comprehensivegenomicprofiling pages 1-2).

4.2 Prevalence across treatment lines (real-world)

In HR+/HER2− metastatic breast cancer: - ESR1 mutations in 1st line: 8.1% (tissue biopsy), 17.5% (liquid biopsy, ctDNA tumor fraction ≥1%), 4.9% (liquid biopsy, tumor fraction <1%), rising to 59% in 3rd line (liquid biopsy, tumor fraction ≥1%) (bhave2024comprehensivegenomicprofiling pages 1-2).

4.3 Somatic vs germline

The retrieved evidence emphasizes somatic acquired ESR1 mutations (endocrine resistance) (shah2024usfoodand pages 1-2, bhave2024comprehensivegenomicprofiling pages 1-2). Germline predisposition genes (e.g., BRCA1/2, PALB2) were not characterized in detail within the evidence snippets obtained here.

4.4 Epigenetics and chromosomal abnormalities

Not directly retrievable from the available sources.

5. Environmental information

Not directly retrievable from the available sources.

6. Mechanism / pathophysiology

6.1 Causal chains emphasized in retrieved evidence

  1. Endocrine therapy pressure (HR+ disease) → selection/emergence of ESR1 mutations → endocrine resistance → disease progression requiring therapy switch (shah2024usfoodand pages 1-2, bhave2024comprehensivegenomicprofiling pages 1-2).
  2. PI3K/AKT/PTEN pathway activation contributes to endocrine resistance → AKT inhibition (capivasertib) can restore/improve control when combined with fulvestrant (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1).
  3. Brain metastasis development in metastatic course → worsened OS and a care gap where many patients do not receive guideline-recommended systemic regimens (varghese2025epidemiologyandoutcomes pages 1-2).

6.2 Pathway and ontology term suggestions

  • PI3K/AKT signaling: GO:0014065 (phosphatidylinositol 3-kinase signaling; candidate)
  • AKT signaling: GO:0043491 (protein kinase B signaling; candidate)
  • Estrogen receptor signaling: GO:0030520 (intracellular estrogen receptor signaling pathway; candidate)
  • Metastatic dissemination: GO:0001837 (epithelial to mesenchymal transition; candidate), GO:0016477 (cell migration; candidate)

6.3 Cell types (Cell Ontology; examples)

  • Breast epithelial cell / mammary gland epithelial cell (CL term candidates)
  • Circulating tumor cell (CL:0001063; candidate)
  • Tumor-associated macrophage (broad immune cell involvement; candidate)

(Specific single-cell/spatial transcriptomic findings were not retrievable in this run.)

7. Anatomical structures affected

7.1 Organ-level targets (from metastatic patterns)

Common distant sites include: - Bone (most common) (zhang2025patternsandprognostic pages 1-2) - Lung (zhang2025patternsandprognostic pages 1-2) - Liver (zhang2025patternsandprognostic pages 1-2) - Brain (less frequent, but high impact) (zhang2025patternsandprognostic pages 1-2, varghese2025epidemiologyandoutcomes pages 1-2)

7.2 UBERON term suggestions (examples)

  • Bone tissue (UBERON:0002481; candidate)
  • Lung (UBERON:0002048; candidate)
  • Liver (UBERON:0002107; candidate)
  • Brain (UBERON:0000955; candidate)

8. Temporal development

8.1 Onset patterns

  • De novo metastatic breast cancer represented 4.4% of cases in one SEER de novo metastasis cohort (2010–2019) (OpenTargets Search: metastatic breast carcinoma).

8.2 Progression and metastatic burden

In the SEER metastatic-pattern analysis, increasing metastatic burden correlated with worse median OS, e.g., single-site median OS 15.0 months, double-site 12.0 months, and specific multi-organ combinations including brain reaching median OS 4.0 months (zhang2025patternsandprognostic pages 6-8).

9. Inheritance and population

9.1 Epidemiology and outcomes (registry/EHR)

  • Metastatic site distribution (metastatic cases): bone 21.3%, lung 16.1%, liver 9.2%, brain 2.9% (SEER 2014–2023 analysis) (zhang2025patternsandprognostic pages 1-2).
  • Age-stratified survival in de novo metastatic breast cancer: 5-year OS 42.1% (≤40), 34.8% (41–60), 28.3% (61–80), 11.8% (>80) (OpenTargets Search: metastatic breast carcinoma).
  • Brain metastases in EHR cohort: prevalence at metastatic diagnosis 12.5% (HER2+) vs 1.7% (HER2−); median OS from metastatic diagnosis 24 vs 37 months (HER2+) and 12 vs 27 months (HER2−) for patients with vs without brain metastases (varghese2025epidemiologyandoutcomes pages 1-2).

9.2 Inheritance

Hereditary breast cancer genetics (inheritance patterns, penetrance, founder effects) were not directly retrievable in this run.

10. Diagnostics

10.1 Biomarker testing and clinical utility (evidence retrieved)

ESR1 mutation testing (tissue and liquid biopsy)

  • The FDA approval summary notes elacestrant approval is restricted to ESR1-mutated ER+/HER2− advanced/metastatic disease; it describes EMERALD as the basis and highlights that post-aromatase inhibitor treatment, ~20–40% of patients may develop ESR1 mutations (shah2024usfoodand pages 1-2).
  • Real-world genomic profiling supports a testing strategy: tissue biopsy CGP at de novo/recurrent diagnosis, followed by liquid biopsy in later lines to detect acquired alterations; reflex tissue testing should be considered when ctDNA tumor fraction is low (bhave2024comprehensivegenomicprofiling pages 1-2).

HER2-low definition (diagnostic concept)

A T-DXd synthesis reports HER2-low definition consistent with modern practice: IHC 1+ or IHC 2+ with negative ISH (quaquarini2025trastuzumab–deruxtecanforthe pages 3-4).

10.2 Imaging / biopsy

Specific imaging performance metrics were not retrievable in this run; however, registry/EHR studies operationalize metastatic site assignment using structured metastasis variables (SEER) and EHR documentation by line-of-therapy (varghese2025epidemiologyandoutcomes pages 1-2, zhang2025patternsandprognostic pages 1-2).

11. Outcome / prognosis

11.1 Survival by metastatic pattern (SEER)

In a SEER-based metastatic pattern study, median OS differed by site and combinations: - Bone-only 16.0 months; lung-only 14.0; liver-only 12.0; brain-only 5.0 (zhang2025patternsandprognostic pages 6-8). - Liver+lung+brain had the shortest median OS 4.0 months (zhang2025patternsandprognostic pages 1-2, zhang2025patternsandprognostic pages 6-8).

11.2 Population survival improvement post-CDK4/6 inhibitor era (SEER)

A SEER registry analysis comparing pre-2015 vs post-2015 guideline era in HR+/HER2− de novo metastatic breast cancer found an adjusted ~10% reduction in risk of breast cancer-specific death post-2015 (HR 0.895; p<0.0001) (OpenTargets Search: metastatic breast carcinoma).

12. Treatment

12.1 Key recent developments (2023–2024 priority) and trial results

A summary table is provided for rapid reference.

Intervention/Study Population Key biomarker/setting Primary endpoint result (median PFS, HR, p) OS result Notable safety Publication (journal, month/year), PMID/DOI, URL
Capivasertib + fulvestrant; CAPItello-291 HR+/HER2− advanced breast cancer after relapse/progression on aromatase inhibitor; 708 randomized; 40.8% AKT-pathway altered; 69.1% prior CDK4/6i PIK3CA/AKT1/PTEN-altered and overall populations Overall: median PFS 7.2 vs 3.6 mo; HR 0.60 (95% CI 0.51–0.71); P<0.001. AKT-pathway altered: median PFS 7.3 vs 3.1 mo; HR 0.50 (95% CI 0.38–0.65); P<0.001 (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1) Not reported in gathered evidence Grade ≥3 rash 12.1% vs 0.3%; grade ≥3 diarrhea 9.3% vs 0.3%; discontinuation 13.0% vs 2.3% (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1) N Engl J Med, Jun 2023; DOI: 10.1056/NEJMoa2214131; https://doi.org/10.1056/NEJMoa2214131 (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1)
Sacituzumab govitecan; EVER-132-002 Asian patients with HR+/HER2− metastatic breast cancer; SG n=166 vs chemotherapy n=165 Post-chemotherapy HR+/HER2− mBC Median PFS 4.3 vs 4.2 mo; HR 0.67 (95% CI 0.52–0.87); P=0.0028 (evangelou2025updatesinadvanced pages 3-4) Median OS 21.0 vs 15.3 mo; HR 0.64 (95% CI 0.47–0.88); P=0.0061 (evangelou2025updatesinadvanced pages 3-4) Most common grade ≥3 TEAEs: neutropenia, leukopenia, anemia (evangelou2025updatesinadvanced pages 3-4) Nature Medicine, Oct 2024; DOI: 10.1038/s41591-024-03269-z; https://doi.org/10.1038/s41591-024-03269-z (evangelou2025updatesinadvanced pages 3-4)
Elacestrant; FDA approval summary based on EMERALD ER+/HER2− advanced/metastatic breast cancer; 478 randomized, including 228 ESR1-mutant patients ESR1-mutated disease after ≥1 prior endocrine therapy; first approved oral ER antagonist for ESR1-mutant setting ESR1-mutant subgroup: PFS HR 0.55 (95% CI 0.39–0.77); P=.0005. ITT: PFS HR 0.70 (95% CI 0.55–0.88); P=.0018. Median PFS not reported in gathered evidence from this source (shah2024usfoodand pages 1-2) ESR1-mut subgroup OS HR 0.90 (95% CI 0.63–1.30); OS endpoint not met (shah2024usfoodand pages 1-2) More nausea, vomiting, dyslipidemia with elacestrant (shah2024usfoodand pages 1-2) J Clin Oncol, Apr 2024; DOI: 10.1200/JCO.23.02112; https://doi.org/10.1200/JCO.23.02112 (shah2024usfoodand pages 1-2)
Trastuzumab deruxtecan; French nationwide real-world cohort 5,890 mBC patients initiating T-DXd in France (2010 HER2+ third-line; 1260 HER2+ second-line; 2620 HER2-low second-line) HER2+ 2L/3L and HER2-low 2L routine care Non-randomized real-world outcomes study; PFS not reported in gathered evidence Median OS 30.2 mo (95% CI 28.1–33.5) for HER2+ 3L; not reached for HER2+ 2L; 16.8 mo (95% CI 14.5–NR) for HER2-low 2L (jourdain2024useandoutcomes pages 1-2) Interstitial lung disease/pneumonitis can be severe; HER2-low patients had higher hospitalization incidence rates for cardiac/respiratory/digestive/hematologic disorders than HER2+ cohorts (jourdain2024useandoutcomes pages 1-2) ESMO Open, Dec 2024; DOI: 10.1016/j.esmoop.2024.104083; https://doi.org/10.1016/j.esmoop.2024.104083 (jourdain2024useandoutcomes pages 1-2)
Trastuzumab deruxtecan; single-centre retrospective series 38 heavily pretreated mBC patients (15 HER2+, 23 HER2-low); included active CNS metastases Heavily pretreated HER2+ and HER2-low mBC in routine practice Non-randomized real-world response study; among 33 evaluable patients, ORR 63%, including 9% complete responses (lazaratos2024therealworldclinical pages 1-2) OS not reported in gathered evidence No grade 4–5 toxicities; pneumonitis in 4/38 (10.5%): grade 3 in 2, grade 2 in 1, grade 1 in 1; discontinuation in 3 cases (lazaratos2024therealworldclinical pages 1-2) Current Oncology, Dec 2024; DOI: 10.3390/curroncol32010001; https://doi.org/10.3390/curroncol32010001 (lazaratos2024therealworldclinical pages 1-2)
SEER registry survival trend after CDK4/6i introduction 11,467 women with HR+/HER2− de novo mBC; comparison pre-2015 vs post-2015 guideline era Population-level HR+/HER2− de novo mBC; epidemiology/outcomes, not a treatment trial Not a PFS trial; adjusted post-2015 vs pre-2015 breast cancer–specific death HR 0.895; P<0.0001 (OpenTargets Search: metastatic breast carcinoma) Indicates ~10% reduction in risk of breast cancer–specific death post-2015; no significant BCSS change in HR+/HER2+ comparator population (OpenTargets Search: metastatic breast carcinoma) Not reported in gathered evidence Breast Cancer Research and Treatment, Aug 2024; DOI: 10.1007/s10549-024-07469-6; https://doi.org/10.1007/s10549-024-07469-6 (OpenTargets Search: metastatic breast carcinoma)
De novo metastatic breast cancer by age; SEER 24,155 de novo metastatic breast cancer patients (2010–2019) Epidemiology/outcomes by age group, not a trial Not applicable 5-year OS: young ≤40 y 42.1%; 41–60 y 34.8%; 61–80 y 28.3%; >80 y 11.8%. Mortality worse vs young: middle-aged aHR 1.18, older 1.42, oldest old 2.15 (OpenTargets Search: metastatic breast carcinoma) Not reported in gathered evidence Frontiers in Endocrinology, Nov 2023; DOI: 10.3389/fendo.2023.1184895; https://doi.org/10.3389/fendo.2023.1184895 (OpenTargets Search: metastatic breast carcinoma)
Brain metastases in mBC; US EHR cohort 12,644 patients with mBC in US oncology EHR data; HER2+ and HER2− cohorts Epidemiology/outcomes for brain metastases, not a trial Not applicable Median OS from mBC diagnosis with vs without BM: HER2+ 24 vs 37 mo; HER2− 12 vs 27 mo. BM prevalence at mBC diagnosis: HER2+ 12.5%, HER2− 1.7% (varghese2025epidemiologyandoutcomes pages 1-2) Most patients with BM were not receiving NCCN-recommended systemic therapies; first-line uptake 25.0% in HER2+ BM vs 12.8% in HER2− BM (varghese2025epidemiologyandoutcomes pages 1-2) BMC Cancer, Oct 2025; DOI: 10.1186/s12885-025-14786-6; https://doi.org/10.1186/s12885-025-14786-6 (varghese2025epidemiologyandoutcomes pages 1-2)

Table: This table summarizes pivotal 2023–2024 trials and selected registry/real-world studies relevant to metastatic breast carcinoma, emphasizing efficacy, survival, and safety outcomes. It is useful for quickly comparing biomarker-defined treatment evidence with real-world epidemiology and outcome data.

12.1.1 Targeting PI3K/AKT/PTEN axis: Capivasertib + fulvestrant (CAPItello-291)

CAPItello-291 (NCT04305496) showed statistically significant PFS improvements: - Overall: median PFS 7.2 vs 3.6 months; HR 0.60 (95% CI 0.51–0.71); P<0.001 (turner2023capivasertibinhormone media c3df1a43). - AKT pathway–altered: median PFS 7.3 vs 3.1 months; HR 0.50 (95% CI 0.38–0.65); P<0.001 (turner2023capivasertibinhormone media 7aa4aaf1). Notable grade ≥3 AEs included rash and diarrhea; discontinuations were higher in the capivasertib arm (turner2023capivasertibinhormone media c3df1a43).

12.1.2 Antibody–drug conjugate for HR+/HER2− metastatic disease: Sacituzumab govitecan (EVER-132-002)

EVER-132-002 (NCT04639986) reported: - PFS HR 0.67 with median 4.3 vs 4.2 months (P=0.0028) - OS HR 0.64 with median 21.0 vs 15.3 months (P=0.0061) with common grade ≥3 hematologic toxicities (evangelou2025updatesinadvanced pages 3-4).

12.1.3 ESR1-mutated ER+/HER2−: Elacestrant (FDA approval summary of EMERALD)

From the FDA approval summary: - ESR1-mutant subgroup PFS benefit: HR 0.55 (95% CI 0.39–0.77); P=.0005 - OS endpoint not met; no OS detriment signal: HR 0.90 (95% CI 0.63–1.30) - More nausea, vomiting, dyslipidemia with elacestrant (shah2024usfoodand pages 1-2).

12.1.4 HER2-positive and HER2-low metastatic disease: Trastuzumab deruxtecan (T-DXd) real-world implementation

  • French nationwide cohort (ESMO Open 2024): median OS 30.2 months in HER2+ third-line and 16.8 months in HER2-low second-line; brain metastases were common (e.g., 16% in HER2-low second-line cohort). The cohort highlights routine-care populations being older/more comorbid than trials and underscores severe ILD/pneumonitis risk requiring surveillance (jourdain2024useandoutcomes pages 1-2).
  • Single-center series (Current Oncology 2024): among 33 evaluable patients, ORR 63% with 10.5% pneumonitis (including grade 3 cases), no grade 4–5 toxicities (lazaratos2024therealworldclinical pages 1-2).

12.2 MAXO term suggestions (examples)

  • Endocrine therapy (MAXO: endocrine therapy; candidate)
  • Cyclin-dependent kinase inhibitor therapy (MAXO: CDK inhibitor therapy; candidate)
  • AKT inhibitor therapy (MAXO: targeted molecular therapy; candidate)
  • Antibody–drug conjugate therapy (MAXO: antibody therapy + chemotherapy conjugate; candidate)
  • Liquid biopsy testing / ctDNA testing (MAXO: diagnostic procedure; candidate)

(Exact MAXO identifiers were not retrievable in this run; these are semantic suggestions.)

13. Prevention

Not directly retrievable from the available sources.

14. Other species / natural disease

Not directly retrievable from the available sources.

15. Model organisms

Not directly retrievable from the available sources.


Direct abstract quotations supporting key claims (selected)

  • CAPItello-291 mechanistic rationale: “AKT pathway activation is implicated in endocrine-therapy resistance.” (turner2023capivasertibinhormone media c3df1a43)
  • EMERALD/elacestrant regulatory conclusion: “The approval of elacestrant in ER+, HER2– advanced or metastatic breast cancer was restricted to patients with ESR1 mutations.” (shah2024usfoodand pages 1-2)
  • EVER-132-002 conclusion: “SG demonstrated significant and clinically meaningful improvement in PFS and OS versus chemotherapy, with a manageable safety profile …” (evangelou2025updatesinadvanced pages 3-4)

Key real-world/practice gaps highlighted

In a large EHR cohort, “most [patients with brain metastases] were not receiving NCCN Guideline®-recommended systemic therapies,” with poorer OS in those with brain metastases (varghese2025epidemiologyandoutcomes pages 1-2).

References (URLs and publication dates)

URLs and dates are provided inline in each cited publication row and in the trial table artifact. Key examples include: - Turner et al., N Engl J Med, Jun 2023, CAPItello-291. https://doi.org/10.1056/NEJMoa2214131 (turner2023capivasertibinhormone media c3df1a43, turner2023capivasertibinhormone media 7aa4aaf1) - Xu et al., Nature Medicine, Oct 2024, EVER-132-002. https://doi.org/10.1038/s41591-024-03269-z (evangelou2025updatesinadvanced pages 3-4) - Shah et al., J Clin Oncol, Apr 2024, FDA summary for elacestrant. https://doi.org/10.1200/jco.23.02112 (shah2024usfoodand pages 1-2) - Jourdain et al., ESMO Open, Dec 2024, French nationwide T-DXd cohort. https://doi.org/10.1016/j.esmoop.2024.104083 (jourdain2024useandoutcomes pages 1-2) - Lazaratos et al., Current Oncology, Dec 2024, single-center T-DXd series. https://doi.org/10.3390/curroncol32010001 (lazaratos2024therealworldclinical pages 1-2)


Items not available in retrieved evidence (explicitly)

  • Metastatic-breast-carcinoma-specific MONDO ID; ICD-10/ICD-11 codes; MeSH ID; OMIM/Orphanet IDs.
  • Detailed environmental/lifestyle risk factors, protective factors.
  • Systematic coverage of germline predisposition variants and allele frequencies (ClinVar/gnomAD), epigenetic mechanisms, and animal models.
  • Formal diagnostic test performance statistics for imaging modalities.

References

  1. (OpenTargets Search: metastatic breast carcinoma): Open Targets Query (metastatic breast carcinoma, 50 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

  2. (zhang2025patternsandprognostic pages 1-2): Maoquan zhang, Hanqing Deng, Rihua Hu, Fuwei Chen, Shiwen Dong, Shiyi Zhang, Wenyan Guo, Wen Yang, and Wenxin Chen. Patterns and prognostic implications of distant metastasis in breast cancer based on seer population data. Scientific Reports, Jul 2025. URL: https://doi.org/10.1038/s41598-025-12883-x, doi:10.1038/s41598-025-12883-x. This article has 34 citations and is from a peer-reviewed journal.

  3. (zhang2025patternsandprognostic pages 2-4): Maoquan zhang, Hanqing Deng, Rihua Hu, Fuwei Chen, Shiwen Dong, Shiyi Zhang, Wenyan Guo, Wen Yang, and Wenxin Chen. Patterns and prognostic implications of distant metastasis in breast cancer based on seer population data. Scientific Reports, Jul 2025. URL: https://doi.org/10.1038/s41598-025-12883-x, doi:10.1038/s41598-025-12883-x. This article has 34 citations and is from a peer-reviewed journal.

  4. (varghese2025epidemiologyandoutcomes pages 1-2): Della Varghese, Jenna Collins, Beth Nordstrom, Miguel Miranda, Brian Murphy, and David Harland. Epidemiology and outcomes associated with brain metastases among patients with metastatic breast cancer – a cohort study in us electronic health record data. BMC Cancer, Oct 2025. URL: https://doi.org/10.1186/s12885-025-14786-6, doi:10.1186/s12885-025-14786-6. This article has 1 citations and is from a peer-reviewed journal.

  5. (zhang2025patternsandprognostic pages 8-10): Maoquan zhang, Hanqing Deng, Rihua Hu, Fuwei Chen, Shiwen Dong, Shiyi Zhang, Wenyan Guo, Wen Yang, and Wenxin Chen. Patterns and prognostic implications of distant metastasis in breast cancer based on seer population data. Scientific Reports, Jul 2025. URL: https://doi.org/10.1038/s41598-025-12883-x, doi:10.1038/s41598-025-12883-x. This article has 34 citations and is from a peer-reviewed journal.

  6. (turner2023capivasertibinhormone media c3df1a43): Nicholas C. Turner, Mafalda Oliveira, Sacha J. Howell, Florence Dalenc, Javier Cortes, Henry L. Gomez Moreno, Xichun Hu, Komal Jhaveri, Petr Krivorotko, Sibylle Loibl, Serafin Morales Murillo, Meena Okera, Yeon Hee Park, Joohyuk Sohn, Masakazu Toi, Eriko Tokunaga, Samih Yousef, Lyudmila Zhukova, Elza C. de Bruin, Lynda Grinsted, Gaia Schiavon, Andrew Foxley, and Hope S. Rugo. Capivasertib in hormone receptor-positive advanced breast cancer. The New England journal of medicine, 388 22:2058-2070, Jun 2023. URL: https://doi.org/10.1056/nejmoa2214131, doi:10.1056/nejmoa2214131. This article has 832 citations and is from a highest quality peer-reviewed journal.

  7. (turner2023capivasertibinhormone media 7aa4aaf1): Nicholas C. Turner, Mafalda Oliveira, Sacha J. Howell, Florence Dalenc, Javier Cortes, Henry L. Gomez Moreno, Xichun Hu, Komal Jhaveri, Petr Krivorotko, Sibylle Loibl, Serafin Morales Murillo, Meena Okera, Yeon Hee Park, Joohyuk Sohn, Masakazu Toi, Eriko Tokunaga, Samih Yousef, Lyudmila Zhukova, Elza C. de Bruin, Lynda Grinsted, Gaia Schiavon, Andrew Foxley, and Hope S. Rugo. Capivasertib in hormone receptor-positive advanced breast cancer. The New England journal of medicine, 388 22:2058-2070, Jun 2023. URL: https://doi.org/10.1056/nejmoa2214131, doi:10.1056/nejmoa2214131. This article has 832 citations and is from a highest quality peer-reviewed journal.

  8. (evangelou2025updatesinadvanced pages 3-4): Christos Evangelou. Updates in advanced hormone receptor-positive breast cancer: from circulating tumor dna-guided therapy to precision medicine. American Medical Journal Oncology, pages 40-49, Jul 2025. URL: https://doi.org/10.33590/oncolamj/ctrc4560, doi:10.33590/oncolamj/ctrc4560. This article has 1 citations.

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  10. (jourdain2024useandoutcomes pages 1-2): H. Jourdain, A. Di Meglio, I. Mansouri, D. Desplas, M. Zureik, and N. Haddy. Use and outcomes of trastuzumab deruxtecan in her2-positive and her2-low metastatic breast cancer in a real-world setting: a nationwide cohort study. ESMO Open, 9:104083, Dec 2024. URL: https://doi.org/10.1016/j.esmoop.2024.104083, doi:10.1016/j.esmoop.2024.104083. This article has 15 citations and is from a domain leading peer-reviewed journal.

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