Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations (CROSBI ID 249278)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Wardell, Christopher P. ; Fujita, Masashi ; Yamada, Toru ; Simbolo, Michele ; Fassan, Matteo ; Karlić, 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 here 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 izdanju
68 (5)
2018.
959-969
objavljeno
0168-8278
1600-0641
10.1016/j.jhep.2018.01.009
