Search about germline genetic predisposition to malignant mesothelioma

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460689
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Hyogo Medical University
• Principal Investigator: Yoshikawa Yoshie 兵庫医科大学, 医学部, 講師 (10566673)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 悪性中皮腫 / ゲノム解析 / 体細胞変異 / 生殖細胞系列変異 / 易罹患性

Outline of Final Research Achievements

Malignant mesotheliomas are associated to exposure to asbestos and are highly aggressive malignancies in adulthood. To date, only infrequent level of mutations has been reported in this type of tumor. We here detected frequent biallelic deletions, as chromothripsis, in the genes BAP1, SETD2, PBRM1, and SMARCC1 at 3p21 region. We identified germline mutations of BAP1 in Japanese and Caucasian apparently sporadic patients both at frequency of 3%. We also detected missense germline rare variants in SETD2, PBRM1, and SMARCC1; the frequencies differed among ethnicities. These germline mutations may impair gene function and predispose individuals to malignant mesotheliomas.

Free Research Field

分子生物学