Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. (CROSBI ID 659903)
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Wardell, Christopher P. ; Fujita, Masashi ; Yamada, Toru ; Simbolo, Michele ; Fassan, Matteo ; Karlic, Rosa ; Polak, Paz ; Kim, Jaegil ; Hatanaka, Yutaka ; Maejima, Kazuhiro ; Lawlor, Rita T. ; Nakanishi, Yoshitsugu ; Mitsuhashi, Tomoko ; Fujimoto, Akihiro ; Furuta, Mayuko ; Ruzzenente, Andrea ; Conci, Simone ; Oosawa, Ayako ; Sasaki-Oku, Aya ; Nakano, Kaoru ; Tanaka, Hiroko ; Yamamoto, Yujiro ; Michiaki, Kubo ; Kawakami, Yoshiiku ; Aikata, Hiroshi ; Ueno, Masaki ; Hayami, Shinya ; Gotoh, Kunihito ; Ariizumi, Shun-ichi ; Yamamoto, Masakazu ; Yamaue, Hiroki ; Chayama, Kazuaki ; Miyano, Satoru ; Getz, Gad ; Scarpa, Aldo ; Hirano, Satoshi ; Nakamura, Toru ; Nakagawa, Hidewaki.
engleski
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
We analyzed genomic features of 412 BTC samples from Japanese and Italian populations. A total of 32 significantly and commonly mutated genes were identified, some of which negatively affected patient prognosis, including a novel deletion of MUC17 at 7q22.1. Cell-of-origin predictions using WGS and epigenetic features suggest hepatocyte-origin of hepatitis-related ICCs. Deleterious germline mutations of cancer-predisposing genes were detected in 11% of patients with BTC. BTCs have distinct genetic features including somatic events and germline predisposition.
Biliary tract cancer ; Cell origin ; Cholangiocarcinoma ; Driver gene ; Genome sequencing ; Predisposing mutation
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Podaci o skupu
Pancancer Analysis of Whole Genomes (PCAWG) face-to-face meeting
pozvano predavanje
07.04.2016-08.04.2016
Barcelona, Španjolska