Intrahepatic bile duct cancer
diseaseOn this page
Also known as cancer of intrahepatic bile ductmalignant intrahepatic bile duct neoplasmmalignant neoplasm of intrahepatic bile ductmalignant neoplasm of intrahepatic bile ducts
Summary
Intrahepatic bile duct cancer (MONDO:0001487) is a cancer with 8 GWAS associations across 6 studies and 6 clinical trials. Top therapeutic interventions include floxuridine, irinotecan, and tipiracil hydrochloride. A subtype of bile duct cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- GWAS associations: 8
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | intrahepatic bile duct cancer |
| Mondo ID | MONDO:0001487 |
| DOID | DOID:12298 |
| ICD-11 | 1938186540 |
| SNOMED CT | 187777008 |
| UMLS | C0546835 |
| MedGen | 639748 |
| GARD | 0022955 |
| Anatomy (UBERON) | UBERON:0003704 |
| Is cancer (heuristic) | yes |
Also known as: cancer of intrahepatic bile duct · malignant intrahepatic bile duct neoplasm · malignant neoplasm of intrahepatic bile duct · malignant neoplasm of intrahepatic bile ducts
Data availability: 8 GWAS associations (6 studies).
Disease family
This is a subtype of bile duct cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › digestive system cancer › liver cancer › biliary tract cancer › bile duct cancer › intrahepatic bile duct cancer
Related subtypes (3): bile duct sarcoma, bile duct carcinoma, malignant tumor of extrahepatic bile duct
Subtypes (2): intrahepatic cholangiocarcinoma, intrahepatic bile duct adenosquamous carcinoma
Genetics & variants
GWAS landscape
8 GWAS associations across 6 studies. Top hits map to 4 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs738408 | 5e-41 | PNPLA3 | C | 0.32 |
| rs56255430 | 7e-18 | MAU2 - GATAD2A | A | 0.33 |
| rs3828802 | 2e-17 | HLA-DQB1 | ? | |
| rs28891474 | 4e-12 | HLA-DQB1 - MTCO3P1 | G | 0.21 |
| rs8103142 | 6e-12 | IFNL3 | T | 0.15 |
| rs35624376 | 9e-12 | KLHL8 | T | 0.18 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475568 | Verma A | 2024 | 3,353 | 446,757 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651193 | Liu TY | 2025 | 3,017 | 211,360 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90477183 | Verma A | 2024 | 1,121 | 120,439 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479785 | Verma A | 2024 | 1,121 | 120,439 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477182 | Verma A | 2024 | 674 | 59,072 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435580 | Zhou W | 2018 | 344 | 393,372 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 4 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 6 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 2 |
| synonymous_variant | 1 |
| intron_variant | 1 |
| regulatory_region_variant | 1 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs738408 | 22 | 43928850 | C>A,G,T | 0.224 | synonymous_variant | PNPLA3 | 5e-41 | Tier 4: intronic/intergenic |
| rs56255430 | 19 | 19367068 | A>C,T | 0.067 | intron_variant | MAU2 - GATAD2A | 7e-18 | Tier 4: intronic/intergenic |
| rs3828802 | 6 | 32668296 | A>G | 0.05 | regulatory_region_variant | HLA-DQB1 | 2e-17 | Tier 3: regulatory |
| rs28891474 | 6 | 32674788 | G>T | 0.256 | intergenic_variant | HLA-DQB1 - MTCO3P1 | 4e-12 | Tier 4: intronic/intergenic |
| rs8103142 | 19 | 39244466 | T>C | 0.383 | missense_variant | IFNL3 | 6e-12 | Tier 1: coding |
| rs35624376 | 4 | 87237936 | T>C | 0.236 | intergenic_variant | KLHL8 | 9e-12 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 3 |
| PHASE1 | 2 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05286814 | PHASE2 | RECRUITING | PDS01ADC in Combination With Hepatic Artery Infusion Pump (HAIP) and Systemic Therapy for Subjects With Metastatic Colorectal Cancer, Intrahepatic Cholangiocarcinoma, or Metastatic Adrenocortical Carcinoma |
| NCT06888063 | PHASE2 | RECRUITING | Additional Chemotherapy Administered Directly Into the Liver Using a Chemo Pump in Patients With Bile Duct Cancer Inside the Liver Treatable by Surgery |
| NCT04072445 | PHASE2 | COMPLETED | Trifluridine/Tipiracil and Irinotecan for the Treatment of Advanced Refractory Biliary Tract Cancer |
| NCT04491942 | PHASE1 | ACTIVE_NOT_RECRUITING | Testing the Addition of an Anti-cancer Drug, BAY 1895344, to the Usual Chemotherapy Treatment (Cisplatin, or Cisplatin and Gemcitabine) for Advanced Solid Tumors With Emphasis on Urothelial Cancer |
| NCT05285358 | PHASE1 | RECRUITING | Pressurized Intraperitoneal Aerosolized Nab-Paclitaxel in Combination With Gemcitabine and Cisplatin for the Treatment of Biliary Tract Cancer Patients With Peritoneal Metastases |
| NCT07573514 | Not specified | ACTIVE_NOT_RECRUITING | Patients With Primary Biliary Cholangitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FLOXURIDINE | 4 | 1 |
| IRINOTECAN | 4 | 1 |
| TIPIRACIL HYDROCHLORIDE | 4 | 1 |
| TRIFLURIDINE | 4 | 1 |
| ELIMUSERTIB | 1 | 1 |
Related Atlas pages
- Drugs: Floxuridine, Irinotecan, Tipiracil, Trifluridine