The scienceGallbladder cancer

63% of 244 MSK-IMPACT samples (Giraldo 2022; cBioPortal gbc_mskcc_2022 counts 154 of 244 sequenced samples, 63.1%); 59% of 85 gallbladder carcinomas on FoundationOne (Javle 2016); 54% of 376 Indian patients (Suryavanshi 2025); 47.1% of 57 Chinese tumour-normal pairs (Li 2014); 30% of 56 Chilean tumours on the Oncomine Comprehensive Assay (Erices 2025); the most mutated gene in 190 patients (Nepal 2021).

38% in Chile, 36% in Japan and 27% in the United States among 81 patients, with worse survival (10 versus 25 months; Narayan 2019); mutation in 52 of 244 samples, 21.3%, and deep deletion in 11 of 244, 4.5%, in cBioPortal gbc_mskcc_2022; 26.2% of 103 in gbc_msk_2018; 7% of 376 Indian patients (Suryavanshi 2025); independently associated with reduced survival in metastatic disease (Giraldo 2022) and with inferior outcomes in ERBB2-driven tumours (Cowzer 2026).

CDKN2A 21% (Giraldo 2022); CDKN2A/B 19% of 85 (Javle 2016); CDKN2A 9% of 376 Indian patients, significantly lower than Western and Asian cohorts (Suryavanshi 2025); cBioPortal gbc_mskcc_2022: CDKN2A deep deletion in 35 of 244, 14.3%, mutation in 26 of 244, 10.7%; CDKN2B deep deletion in 34 of 244, 13.9%.

31.3% HER2-positive among 80 resected Japanese gallbladder carcinomas scored by the gastro-oesophageal guideline (Hiraoka 2020); 12.8% overexpression among 187 Chilean cases scored by ASCO/CAP breast criteria, with 20% equivocal (Roa 2014); 9.4% of 53 Italian gallbladder carcinomas HER2-positive by HERIZON-BTC-01 criteria (Angerilli 2026).

13% of 85 (Javle 2016); mutation in 50 of 244 samples, 20.5%, in cBioPortal gbc_mskcc_2022 and 26 of 103, 25.2%, in gbc_msk_2018; significantly lower in 376 Indian patients (Suryavanshi 2025) and absent from the 11 Japanese tumours in Narayan 2019; among the 32 significantly mutated biliary genes in Wardell 2018.

Tumour cells positive at 1% or more in 23.0% of 174 Indian cases (SP263; 14.9% at 10% and 7.5% at 50%), with PD-L1 on immune cells in 24.1% (Neyaz 2018); tumour proportion score 1% or more in 14.7% of 131 Western cases, 4.7% above 10% and 3.1% above 25% (Albrecht 2021); 98% of 47 United States adenocarcinomas stained with a different antibody and scoring (Patil 2021).

Deep deletion in 34 of 244 samples, 13.9%, in cBioPortal gbc_mskcc_2022 and 12 of 103, 11.7%, in gbc_msk_2018; co-deleted with CDKN2A on 9p21.

Amplification in 29 of 244 samples, 11.9%, in cBioPortal gbc_mskcc_2022 and 12 of 103, 11.7%, in gbc_msk_2018; 6.5% across 1,254 biliary tract cancers of all sites (Cowzer 2026).

Mutation in 16 of 244 samples, 6.6%, in cBioPortal gbc_mskcc_2022 and 16 of 103, 15.5%, in gbc_msk_2018; among the actionable variants in the Chilean cohort (Erices 2025).

11% of 244 samples (Giraldo 2022; cBioPortal gbc_mskcc_2022: mutation in 18 of 244, 7.4%, and amplification in 10 of 244, 4.1%); 7.8% of 57 (Li 2014); 7% of 376 Indian patients (Suryavanshi 2025); 7.8% of 103 samples in cBioPortal gbc_msk_2018.

Mutation in 26 of 244 samples, 10.7%, in cBioPortal gbc_mskcc_2022 and 11 of 103, 10.7%, in gbc_msk_2018; 6.2% of 32 exomes in gbc_shanghai_2014; absent from the 11 Japanese tumours in Narayan 2019; named among the actionable variants in 35% of patients (Giraldo 2022).

11.8% of 57 (Li 2014, a significantly mutated gene); mutation in 16 of 244 samples, 6.6%, and amplification in 12 of 244, 4.9%, in cBioPortal gbc_mskcc_2022; absent from the 21 Chilean tumours in Narayan 2019.

Amplification in 22 of 244 samples, 9.0%, in cBioPortal gbc_mskcc_2022.

Mutation in 21 of 244 samples, 8.6%, in cBioPortal gbc_mskcc_2022; a significantly altered gene across 260 biliary cancers (Nakamura 2015) and across 167 gallbladder cancers, where most alterations were frameshifts yielding T-cell-activating neoantigens (Pandey 2020).

8% amplification alone plus 1.5% amplification with a mutation among 260 patients (Mondaca 2024); about 8% of 376 Indian patients (Suryavanshi 2025); high-level amplification in 25 of 244 samples, 10.2%, in cBioPortal gbc_mskcc_2022 and 7 of 103, 6.8%, in gbc_msk_2018. ERBB2 alterations of any kind: 15% (Giraldo 2022), 16% of 85 (Javle 2016), 14% overall and 15% versus 9% in the American and Chilean cohorts (Mondaca 2024).

Mutation in 22 of 244 samples, 9.0%, in cBioPortal gbc_mskcc_2022; a significantly mutated gene (Pandey 2020) independently associated with reduced survival in metastatic disease (Giraldo 2022).

Mutation in 15 of 244 samples, 6.1%, in cBioPortal gbc_mskcc_2022 and 6 of 103, 5.8%, in gbc_msk_2018; a significantly mutated gene not previously linked to gallbladder cancer, with recurrent Wnt pathway alterations (Pandey 2020); a critical event in co-existing adenoma, high-grade BilIN and carcinoma lesions (Lin 2021).

4% mutation alone, 1.5% with amplification and 0.4% fusion among 260 patients (Mondaca 2024); S310F/Y hotspot predominance among Indian ERBB2 alterations (Suryavanshi 2025); mutations in 19 of 244 samples, 7.8%, in cBioPortal gbc_mskcc_2022; 9.4% of 32 exomes in gbc_shanghai_2014.

Mutation in 7 of 244 samples, 2.9%, in cBioPortal gbc_mskcc_2022 and 5 of 103, 4.9%, in gbc_msk_2018; none of 32 exomes in gbc_shanghai_2014.

BRCA2 mutation in 13 of 244 samples, 5.3%, and BRCA1 in 3 of 244, 1.2%, in cBioPortal gbc_mskcc_2022; oncogenic BRCA1/2 variants among the actionable findings (Giraldo 2022); deleterious germline variants in BRCA1, BRCA2, RAD51D, MLH1 or MSH2 in 11% (16 of 146) of biliary tract cancer patients (Wardell 2018); gallbladder tumours had the highest rate of homologous recombination repair deficiency among biliary sites (Weinberg 2019).

Amplification in 8 of 244 samples, 3.3%, and mutation in 3 of 244, 1.2%, in cBioPortal gbc_mskcc_2022; 3.1% of 32 exomes in gbc_shanghai_2014; among the actionable variants in the Chilean cohort (Erices 2025).

Mutation in 4 of 244 samples, 1.6%, in cBioPortal gbc_mskcc_2022.

6 of 244 samples, 2.5%, called unstable by MSIsensor in cBioPortal gbc_mskcc_2022; 0.6% (2 of 170 tested) in Indian patients (Suryavanshi 2025); 1.3% (4 of 308) in Western cholangiocarcinoma by mononucleotide markers (Goeppert 2019); gallbladder and intrahepatic tumours carried more MSI-high, PD-L1 and TMB-high than extrahepatic (Weinberg 2019).

No FGFR2 fusion among the structural variants deposited for cBioPortal gbc_mskcc_2022; FGFR2 mutation in 3 of 244, 1.2%, and amplification in 3 of 244, 1.2%; no recurrent structural variants in the cohort (Giraldo 2022).

IDH1 mutation in 1 of 244 samples, 0.4%, and no IDH2 mutation in cBioPortal gbc_mskcc_2022; 2 of 103 and 1 of 103 in gbc_msk_2018.

One LMNA::NTRK1 fusion patient (four samples) among 233 patients in cBioPortal gbc_mskcc_2022, about 0.4%; NTRK1 fusions named among the actionable alterations (Giraldo 2022); NTRK-driven biliary tumours retained the driver at progression (Cowzer 2026).