Germline mutations in cancer-predisposition genes in patients with biliary tract cancer - PubMed (original) (raw)

. 2019 Oct 15;10(57):5949-5957.

doi: 10.18632/oncotarget.27224.

Kumiko Umemoto 3, Hideaki Takahashi 3, Hiroko Hosoi 2, Erina Takai 4, Shunsuke Kondo 2, Yasunari Sakamoto 2, Shuichi Mitsunaga 3, Izumi Ohno 3, Yusuke Hashimoto 3, Mitsuhito Sasaki 3, Masafumi Ikeda 3, Kazuaki Shimada 5, Shuichi Kaneko 1, Shinichi Yachida 4, Kokichi Sugano 6 7, Takuji Okusaka 2, Chigusa Morizane 2

Affiliations

Germline mutations in cancer-predisposition genes in patients with biliary tract cancer

Takeshi Terashima et al. Oncotarget. 2019.

Abstract

The prevalence of germline mutations in patients with biliary tract carcinoma (BTC) remains unclear. Here, we investigated the prevalence and types of germline mutations in patients with BTC. We reviewed 269 patients with pathologically proven BTC and collected clinical characteristics, including medical and family histories. Additionally, we evaluated germline variants in 21 genes associated with hereditary predisposition for cancer by targeted sequencing in patients meeting ≥1 of the following criteria: 1) hereditary breast and/or ovarian cancer (HBOC) testing criteria modified for BTC, 2) Revised Bethesda Guidelines (RBGs) modified for BTC (modified RBG), 3) familial BTC criteria, or 4) young BTC criteria. Among the 269 patients, 80 met at least one criterion. Three pathogenic mutations in three patients were identified: two in BRCA2 and one in BRCA1. Among the 16 patients meeting modified HBOC testing criteria, 2 harbored germline BRCA2 mutations, and 1 harbored a germline BRCA1 mutation. However, no mutation in mismatch-repair genes were detected, despite 63 patients meeting modified RBG screening criteria and 18 qualifying as young BTC patients. We detected high prevalence of pathogenic germline mutations in BRCA1/2 and none in mismatch-repair genes in BTC patients following enrichment according to family or medical history in this study.

Keywords: biliary tract cancer; cancer-predisposition genes; germline mutations; hereditary breast cancer syndrome; hereditary ovarian cancer syndrome.

Copyright: © 2019 Terashima et al.

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Conflict of interest statement

CONFLICTS OF INTEREST The authors have no conflicts of interest to declare.

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