{"entity":{"id":"paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","kind":"paper","name":"Genomic profiling of Indian gallbladder carcinoma: mutational insights in a high-incidence population","aka":[],"tldr":"The largest Indian series, 376 patients sequenced at three centres, found the disease strikes a decade earlier than elsewhere, with TP53 and HER2 the leading changes and immunotherapy markers rare.","summary":"376 patients with gallbladder carcinoma (339 tissue and 37 plasma cell-free DNA samples) from three Indian institutions (2022 to 2024) were analysed with clinically validated next-generation sequencing panels and compared with Western, Asian and multi-ethnic cohorts curated from cBioPortal. The disease was more frequent in women (1.5 to 1) and diagnosed nearly a decade earlier than in international cohorts (median age 54).\n\nTP53 (54%) and ERBB2 (15%; approximately 8% amplification, with S310F/Y hotspot predominance) were the most common alterations, followed by CDKN2A (9%), KRAS (7%) and SMAD4 (7%). Microsatellite instability-high (0.6%, 2 of 170 tested) and tumour mutational burden-high (1.3%, 1 of 79 tested) were rare. Indian patients had significantly lower ARID1A, SMAD4 and CDKN2A alteration rates than Western and Asian cohorts (all P < 0.001). Of 37 cfDNA patients, 13 showed no variants, but detected alterations qualitatively mirrored tissue.","asOf":"2026-09-24","links":[{"label":"Suryavanshi et al., JCO Glob Oncol 2025: genomic profiling of 376 Indian gallbladder carcinomas","url":"https://doi.org/10.1200/go-25-00332"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/41418080/"}],"tags":[],"related":[],"cancers":["gallbladder"],"sections":[],"technologies":[],"targets":["tp53","her2","cdkn2a","kras","smad4","arid1a","mmr"],"drugs":[],"companies":[],"institutions":["tata-memorial"],"pathways":[],"terms":["msi","tmb","ctdna"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"journal":"JCO Global Oncology","year":2025,"doi":"10.1200/go-25-00332","pmid":"41418080","authors":"Suryavanshi M, Ostwal V, Javle MM, et al.","paperType":"observational","findings":["TP53 54%, ERBB2 15% (about 8% amplification; S310F/Y hotspot), CDKN2A 9%, KRAS 7%, SMAD4 7%.","MSI-high 0.6% (2 of 170) and TMB-high 1.3% (1 of 79).","ARID1A, SMAD4 and CDKN2A significantly less altered than in Western and Asian cohorts; median age at diagnosis 54."],"whatItMeans":"HER2 is as frequent in India as in the West, so HER2 testing pays off in the highest-incidence population, while tumour-agnostic immunotherapy markers will rarely apply. The paper also shows plasma testing is feasible where tissue is scarce.","caveats":["Heterogeneous panels across three institutions introduce variability in frequency estimates, as the authors state.","Retrospective series of patients who reached sequencing."],"changedPractice":false,"participants":376},"route":"/key-papers/paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025/","neighbours":{"cancer":[{"id":"gallbladder","kind":"cancer","name":"Gallbladder cancer","route":"/cancers/gallbladder/"}],"target":[{"id":"arid1a","kind":"target","name":"ARID1A","route":"/targets/arid1a/"},{"id":"cdkn2a","kind":"target","name":"CDKN2A","route":"/targets/cdkn2a/"},{"id":"her2","kind":"target","name":"HER2","route":"/targets/her2/"},{"id":"kras","kind":"target","name":"KRAS","route":"/targets/kras/"},{"id":"mmr","kind":"target","name":"Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2)","route":"/targets/mmr/"},{"id":"smad4","kind":"target","name":"SMAD4","route":"/targets/smad4/"},{"id":"tp53","kind":"target","name":"TP53","route":"/targets/tp53/"}],"institution":[{"id":"tata-memorial","kind":"institution","name":"Tata Memorial Centre","route":"/institutions/tata-memorial/"}],"term":[{"id":"ctdna","kind":"term","name":"Circulating tumour DNA (ctDNA)","route":"/terms/ctdna/"},{"id":"her2-testing-in-biliary-cancer","kind":"term","name":"HER2 testing in biliary tract cancer (IHC, ISH and NGS)","route":"/terms/her2-testing-in-biliary-cancer/"},{"id":"msi","kind":"term","name":"Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR)","route":"/terms/msi/"},{"id":"tmb","kind":"term","name":"Tumour mutational burden (TMB)","route":"/terms/tmb/"}],"biomarker":[{"id":"her2-mutation","kind":"biomarker","name":"HER2 (ERBB2) activating mutation","route":"/biomarkers/her2-mutation/"},{"id":"msi-high","kind":"biomarker","name":"MSI-high (microsatellite instability by PCR or sequencing)","route":"/biomarkers/msi-high/"},{"id":"tmb-high","kind":"biomarker","name":"TMB-high (tumour mutational burden >= 10 mutations per megabase)","route":"/biomarkers/tmb-high/"}]}}