A

Disease A

Slug:Liver_Cirrhosis
B

Disease B

Slug:Hepatocellular_Carcinoma
G

Causal Mechanism Graphs

Liver Cirrhosis

graph LR
    Hepatocyte_Injury_and_Death["Hepatocyte Injury and Death"]
    Kupffer_Cell_and_Inflammatory_Response["Kupffer Cell and Inflammatory Response"]
    Hepatic_Stellate_Cell_Activation["Hepatic Stellate Cell Activation"]
    IL_11_Signalling_in_Hepatic_Stellate_Cells["IL-11 Signalling in Hepatic Stellate Cells"]
    Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues["Akura Twin 384-well liver fibrosis microphysiological system (HepaRG/THP-1 and hTERT-HSC microtissues)"]
    TGF_beta_Signaling_in_Fibrogenesis["TGF-beta Signaling in Fibrogenesis"]

    IL_11_Signalling_in_Hepatic_Stellate_Cells --> Hepatic_Stellate_Cell_Activation
    TGF_beta_Signaling_in_Fibrogenesis --> Hepatic_Stellate_Cell_Activation
    TGF_beta_Signaling_in_Fibrogenesis --> IL_11_Signalling_in_Hepatic_Stellate_Cells
    Kupffer_Cell_and_Inflammatory_Response --> Hepatic_Stellate_Cell_Activation
    Kupffer_Cell_and_Inflammatory_Response --> TGF_beta_Signaling_in_Fibrogenesis
    Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues --> Hepatic_Stellate_Cell_Activation
    Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues --> Kupffer_Cell_and_Inflammatory_Response
    Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues --> Hepatocyte_Injury_and_Death
    Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues --> TGF_beta_Signaling_in_Fibrogenesis

    style Hepatocyte_Injury_and_Death fill:#dbeafe
    style Kupffer_Cell_and_Inflammatory_Response fill:#dbeafe
    style Hepatic_Stellate_Cell_Activation fill:#dbeafe
    style IL_11_Signalling_in_Hepatic_Stellate_Cells fill:#dbeafe
    style Akura_Twin_384_well_liver_fibrosis_microphysiological_system_HepaRG_THP_1_and_hTERT_HSC_microtissues fill:#ccfbf1
    style TGF_beta_Signaling_in_Fibrogenesis fill:#dbeafe

Hepatocellular Carcinoma

graph LR
    Chronic_hepatitis_B_or_C_infection["Chronic hepatitis B or C infection"]
    Durvalumab_plus_Tremelimumab["Durvalumab plus Tremelimumab"]
    Telomere_Dysfunction_and_Genomic_Instability["Telomere Dysfunction and Genomic Instability"]
    Accumulation_of_Driver_Mutations["Accumulation of Driver Mutations"]
    Aerobic_Glycolysis_and_Metabolic_Reprogramming["Aerobic Glycolysis and Metabolic Reprogramming"]
    Sorafenib["Sorafenib"]
    PI3K_AKT_mTOR_Pathway_Activation["PI3K/AKT/mTOR Pathway Activation"]
    Lenvatinib["Lenvatinib"]
    Portal_Vein_Invasion_and_Tumor_Thrombus["Portal Vein Invasion and Tumor Thrombus"]
    Chronic_Liver_Injury_and_Cirrhosis["Chronic Liver Injury and Cirrhosis"]
    WNT_Beta_Catenin_Pathway_Activation["WNT/Beta-Catenin Pathway Activation"]
    Enhanced_Hepatocyte_Proliferation["Enhanced Hepatocyte Proliferation"]
    Immune_Evasion_and_Immunosuppressive_Microenvironment["Immune Evasion and Immunosuppressive Microenvironment"]
    Angiogenesis_and_VEGF_Signaling["Angiogenesis and VEGF Signaling"]
    Alcohol_and_aflatoxin_exposure["Alcohol and aflatoxin exposure"]
    Atezolizumab_plus_Bevacizumab["Atezolizumab plus Bevacizumab"]

    Chronic_Liver_Injury_and_Cirrhosis --> Telomere_Dysfunction_and_Genomic_Instability
    Chronic_Liver_Injury_and_Cirrhosis --> Accumulation_of_Driver_Mutations
    Telomere_Dysfunction_and_Genomic_Instability --> WNT_Beta_Catenin_Pathway_Activation
    Accumulation_of_Driver_Mutations --> PI3K_AKT_mTOR_Pathway_Activation
    WNT_Beta_Catenin_Pathway_Activation --> Enhanced_Hepatocyte_Proliferation
    WNT_Beta_Catenin_Pathway_Activation --> Portal_Vein_Invasion_and_Tumor_Thrombus
    PI3K_AKT_mTOR_Pathway_Activation --> Enhanced_Hepatocyte_Proliferation
    PI3K_AKT_mTOR_Pathway_Activation --> Immune_Evasion_and_Immunosuppressive_Microenvironment
    PI3K_AKT_mTOR_Pathway_Activation --> Aerobic_Glycolysis_and_Metabolic_Reprogramming
    Angiogenesis_and_VEGF_Signaling --> Immune_Evasion_and_Immunosuppressive_Microenvironment
    Aerobic_Glycolysis_and_Metabolic_Reprogramming --> Enhanced_Hepatocyte_Proliferation
    Chronic_hepatitis_B_or_C_infection --> Chronic_Liver_Injury_and_Cirrhosis
    Alcohol_and_aflatoxin_exposure --> Chronic_Liver_Injury_and_Cirrhosis
    Atezolizumab_plus_Bevacizumab --> Immune_Evasion_and_Immunosuppressive_Microenvironment
    Atezolizumab_plus_Bevacizumab --> Angiogenesis_and_VEGF_Signaling
    Durvalumab_plus_Tremelimumab --> Immune_Evasion_and_Immunosuppressive_Microenvironment
    Sorafenib --> Angiogenesis_and_VEGF_Signaling
    Lenvatinib --> Angiogenesis_and_VEGF_Signaling

    style Chronic_hepatitis_B_or_C_infection fill:#dcfce7
    style Durvalumab_plus_Tremelimumab fill:#fce7f3
    style Telomere_Dysfunction_and_Genomic_Instability fill:#dbeafe
    style Accumulation_of_Driver_Mutations fill:#dbeafe
    style Aerobic_Glycolysis_and_Metabolic_Reprogramming fill:#dbeafe
    style Sorafenib fill:#fce7f3
    style PI3K_AKT_mTOR_Pathway_Activation fill:#dbeafe
    style Lenvatinib fill:#fce7f3
    style Portal_Vein_Invasion_and_Tumor_Thrombus fill:#dbeafe
    style Chronic_Liver_Injury_and_Cirrhosis fill:#dbeafe
    style WNT_Beta_Catenin_Pathway_Activation fill:#dbeafe
    style Enhanced_Hepatocyte_Proliferation fill:#dbeafe
    style Immune_Evasion_and_Immunosuppressive_Microenvironment fill:#dbeafe
    style Angiogenesis_and_VEGF_Signaling fill:#dbeafe
    style Alcohol_and_aflatoxin_exposure fill:#dcfce7
    style Atezolizumab_plus_Bevacizumab fill:#fce7f3
S

Association Signals

Signal 1
LITERATURE LITERATURE_ASSOCIATION A_BEFORE_B
Population:Brazilian cirrhosis outpatient cohort under six-monthly HCC surveillance (n=453; hepatitis C virus and heavy alcohol use the main etiologies), Porto Alegre, 2005-2014, 10-year retrospective cohort with Kaplan-Meier estimation of incident HCC.
Temporal: A before B: , B before A: , Same time:
INCIDENCE_RATE: 2.6
CI: -
p:
FDR:
Kaplan-Meier cumulative incidence of HCC at 1 year among patients who had cirrhosis at cohort entry, expressed as a percentage; 15.4% at 5 years and 28.8% at 10 years, with 75 of 453 patients (16.6%) developing HCC over the study period. Chosen over a within-case prevalence figure because the denominator here is the cirrhosis population followed forward, which is what a directed A_BEFORE_B risk signal requires.
PMID:28028370 (SUPPORT)
Source: HUMAN_CLINICAL
"HCC was diagnosed in 75 patients (16.6%), with an estimated cumulative incidence of 2.6% in the 1st year, 15.4% in the 5th year, and 28.8% in the 10th year."
Measures incident HCC prospectively in a defined cirrhosis cohort, supporting cirrhosis as an antecedent risk state for HCC rather than merely a frequent co-finding among HCC cases.
H

Hypotheses

Cirrhosis provides the premalignant inflammatory and regenerative context for most hepatocellular carcinoma: sustained hepatocyte injury and regeneration in the cirrhotic liver create the genomic instability and proliferative pressure from which HCC arises.
PMID:41567639 (SUPPORT)
Source: HUMAN_CLINICAL
"HCC typically arises in patients with chronic liver disease, including hepatitis, cirrhosis, and non-alcoholic fatty liver diseases."
Establishes cirrhosis as one of the chronic liver disease backgrounds from which HCC typically arises.
Y

Raw YAML

Show YAML
name: com_Liver_Cirrhosis__Hepatocellular_Carcinoma
creation_date: "2026-08-08T00:00:00Z"
curation_status: CANDIDATE
notes: >-
  Split out of the former `kb/disorders/Metastatic_HCC.yaml`'s `environmental:` block
  (since folded into `Hepatocellular_Carcinoma`, design decisions §3a)
  (dismech#8185): that entry listed `Cirrhosis` as an "exposure" acting on the
  disease's own "Chronic Liver Disease Substrate" pathophysiology node, but
  cirrhosis is one of the chronic liver injury states that node itself
  enumerates rather than something external to the organism acting on it, and
  it is a first-class `Disease` entry in its own right
  (`kb/disorders/Liver_Cirrhosis.yaml`). Modeling the relationship here as a
  disease-disease comorbidity instead makes it queryable and avoids the
  near-tautological pathograph edge. Directionality is A_BEFORE_B: cirrhosis
  is the premalignant substrate that precedes HCC development, not the
  reverse.

  Side B is `Hepatocellular_Carcinoma`, not `Metastatic_HCC`. The cited
  evidence establishes cirrhosis as the background from which HCC arises and
  measures incident HCC in a cirrhosis cohort; none of it addresses
  *metastatic* HCC specifically, and the relationship between cirrhosis and
  stage at presentation runs the other way if anything, since HCC arising in
  non-cirrhotic liver is not caught by surveillance and tends to present
  larger and later. Attaching a directed RISK edge to the metastatic entity
  would assert more than the sources support (review of dismech#8195).

disease_a:
  slug: Liver_Cirrhosis
  preferred_term: cirrhosis of liver
  term:
    id: MONDO:0005155
    label: cirrhosis of liver

disease_b:
  slug: Hepatocellular_Carcinoma
  preferred_term: hepatocellular carcinoma
  term:
    id: MONDO:0007256
    label: hepatocellular carcinoma

directionality: A_BEFORE_B
effect_direction: RISK

hypotheses:
- description: >-
    Cirrhosis provides the premalignant inflammatory and regenerative context
    for most hepatocellular carcinoma: sustained hepatocyte injury and
    regeneration in the cirrhotic liver create the genomic instability and
    proliferative pressure from which HCC arises.
  evidence:
  - reference: PMID:41567639
    reference_title: Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "HCC typically arises in patients with chronic liver disease, including hepatitis, cirrhosis, and non-alcoholic fatty liver diseases."
    explanation: >-
      Establishes cirrhosis as one of the chronic liver disease backgrounds
      from which HCC typically arises.

association_signals:
- source: LITERATURE
  method: LITERATURE_ASSOCIATION
  population: >-
    Brazilian cirrhosis outpatient cohort under six-monthly HCC surveillance
    (n=453; hepatitis C virus and heavy alcohol use the main etiologies),
    Porto Alegre, 2005-2014, 10-year retrospective cohort with Kaplan-Meier
    estimation of incident HCC.
  directionality: A_BEFORE_B
  effect_direction: RISK
  statistics:
    metrics:
    - metric_type: INCIDENCE_RATE
      metric_value: 2.6
      notes: >-
        Kaplan-Meier cumulative incidence of HCC at 1 year among patients who
        had cirrhosis at cohort entry, expressed as a percentage; 15.4% at 5
        years and 28.8% at 10 years, with 75 of 453 patients (16.6%)
        developing HCC over the study period. Chosen over a within-case
        prevalence figure because the denominator here is the cirrhosis
        population followed forward, which is what a directed A_BEFORE_B risk
        signal requires.
    evidence:
    - reference: PMID:28028370
      reference_title: "Incidence of hepatocellular carcinoma in outpatients with cirrhosis in Brazil: A 10-year retrospective cohort study."
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: "HCC was diagnosed in 75 patients (16.6%), with an estimated cumulative incidence of 2.6% in the 1st year, 15.4% in the 5th year, and 28.8% in the 10th year."
      explanation: >-
        Measures incident HCC prospectively in a defined cirrhosis cohort,
        supporting cirrhosis as an antecedent risk state for HCC rather than
        merely a frequent co-finding among HCC cases.
Source:GitHub