GRCh38 · COSMIC v99


This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Crossing borders: A systematic review with quantitative analysis of genetic mutations of carcinomas of the biliary tract.
Paper ID
Roos E, Soer EC, Klompmaker S, Meijer LL, Besselink MG, Giovannetti E, Heger M, Kazemier G, Klümpen HJ, Takkenberg RB, Wilmink H, Würdinger T, Dijk F, van Gulik TM, Verheij J and van de Vijver MJ
Department of Surgery, Cancer Center Amsterdam, Amsterdam UMC, University of Amsterdam, the Netherlands; Laboratory of Experimental Surgery, Amsterdam UMC, University of Amsterdam, the Netherlands.
Critical reviews in oncology/hematology, 2019;140:8-16
ISSN: 1879-0461
PMID: 31158800 (view at PubMed or Europe PMC)
Biliary tract carcinoma (BTC) comprises gallbladder and intra-/extrahepatic cholangiocarcinoma (GBC, ICC, EHC), which are currently classified by anatomical origin. Better understanding of the mutational profile of BTCs might refine classification and improve treatment. We performed a systematic review of studies reporting on mutational profiling of BTC. We included articles reporting on whole-exome/whole-genome-sequencing (WES/WGS) and targeted sequencing (TS) of BTC, published between 2000-2017. Pooled mutation proportions were calculated, stratified by anatomical region and sequencing technique. A total of 25 studies with 1806 patients were included. Overall, TP53 was the most commonly mutated gene in BTC. GBC was associated with mutations in PFKFB3, PLXN2 and PGAP1. Mutations in IDH1, IDH2 and FGFR fusions almost exclusively occurred in ICC patients. Mutations in APC, GNAS and TGFBR2 occurred exclusively in EHC patients. In conclusion, subtypes of BTCs exhibit minor differences in mutational profile, which is likely influenced by the cell of origin.
Paper Status