2014 Fiscal Year Final Research Report

Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients

Research Project

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Project/Area Number	23591977
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Research Field	Digestive surgery
Research Institution	Tokyo Institute of Technology (2013-2014) Japanese Foundation for Cancer Research (2011-2012)
Principal Investigator	TAKI Keiko 東京工業大学, 資源化学研究所, 産学官連携研究員 (50332284)
Co-Investigator(Renkei-kenkyūsha)	ARAI Masami 公益財団法人がん研究会有明病院, 遺伝子診療部, 部長 (20232027)
Research Collaborator	佐藤友理がん研究会有明病院, 遺伝子診療部, 助手芦原有美がん研究会有明病院, 遺伝子診療部, 認定遺伝カウンセラー喜多瑞穂がん研究会有明病院, 遺伝子診療部, 認定遺伝カウンセラー上野雅資がん研究会有明病院, 消化器センター, 下部消化管担当部長五十嵐正広がん研究会有明病院, 消化器センター, 内視鏡診断部部長福長洋介がん研究会有明病院, 消化器センター, 医長長山聡がん研究会有明病院, 消化器センター, 医長田島郁文医療法人社団寿山会田島病院, 院長
Project Period (FY)	2011-04-28 – 2015-03-31
Keywords	MUTYH / 家族性大腸腺腫症 / FAP / MAP / 大腸ポリポーシス / ミスマッチ修復 / 大腸癌 / MYH
Outline of Final Research Achievements	Some of colorectal polyposis patients without detectable germline APC mutations are considered to carry germline mutations in the MUTYH gene. Because limited information is available on MUTYH variants and their contribution to polyposis, we investigated whether 14 polyposis patients without detectable germline APC mutations carried germline MUTYH mutations. Somatic APC mosaic mutations were detected in three polyposis cases (21%) and no biallelic germline MUTYH mutations were detected. Three patients had an IVS10-2A>G MUTYH heterozygous mutation. We investigated the allele frequency with 115 controls over 70 years of age without cancer history. The allele frequency was 0.022 (5 variants). The odds ratio of IVS10-2A>G was 5.4 (95% confidence interval: 1.22-24.0). Though our sample size is too small to make a definitive conclusion, the odds ratio was significantly higher in case group. Further analysis was required to assess the risk of variant for colorectal polyposis.
Free Research Field	分子生物学, 臨床遺伝学, 放射線生物学