フルカワ　トオル   Furukawa Tooru   古川　徹    所属   医学部 医学科（東京女子医科大学病院）    職種   客員教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Germline mutations in Japanese familial pancreatic cancer patients.
掲載誌名	正式名：Oncotarget 略　 称：Oncotarget ISSNコード：19492553
掲載区分	国外
巻・号・頁	pp.in press
著者・共著者	Takai Erina†, Yachida Shinichi, Shimizu Kyoko, Furuse Junji, Kubo Emi, Ohmoto Akihiro, Suzuki Masami, Hruban Ralph H, Okusaka Takuji, Morizane Chigusa, Furukawa Toru*
担当区分	責任著者
発行年月	2016/10
概要	Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis. In the FPC patients, we then investigated the prevalence of germline mutations in 21 genes associated with hereditary predispositions for pancreatic, breast and ovarian cancers by means of the next-generation sequencing using a custom multiple-gene panel. We found that eight (14.5%) of the 54 FPC patients with available germline DNA carried deleterious mutations in BRCA2, PALB2, ATM, or MLH1. These results indicate that a significant fraction of patients with PDAC in Japan have a family history of pancreatic cancer, and some of them harbor deleterious causative mutations in known FPC predisposition genes.
DOI	10.18632/oncotarget.12490
PMID	27732944