Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients

作者：Taki Keiko; Sato Yuri; Nomura Sachio; Ashihara Yuumi; Kita Mizuho; Tajima Ikufumi; Sugano Kokichi; Arai Masami^*

来源：Familial Cancer, 2016, 15(2): 261-265.

DOI：10.1007/s10689-015-9857-1

• MAP
• MUTYH-associated polyposis
• Adenomatous polyposis
• MUTYH
• FAP
• Colorectal polyposis

Germline MUTYH mutations were investigated in 14 Japanese colorectal polyposis patients without germ line adenomatous polyposis coli (APC) gene mutations. Three patients had a heterozygous IVS10-2A>G MUTYH mutation. The onset of MUTYH-associated polyposis (MAP) occurs later than that of familial adenomatous polyposis with germline APC mutation. Thus, we compared the carrier frequency of MUTYH IVS10-2A>G heterozygote in the APC mutation negative cases with that in 115 controls over 70 years of age who showed no apparent clinical manifestations of cancer and claimed that they had no history of cancer at the time of enrollment. The frequency of IVS10-2A>G heterozygote in APC germline mutation negative polyposis patients was significantly higher than control subject (p = 0.012, Chi square test). Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis.

• 出版日期2016-4
• 单位中国医学科学院肿瘤医院