Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.
作者： Michiko Miyaki , Takeru Iijima , Tatsuro Yamaguchi , Tsunekazu Hishima , Kazuo Tamura
DOI: 10.1016/J.MRFMMM.2005.01.017
关键词: Germline mutation 、 MUTYH 、 Germline 、 Mutation 、 Allele frequency 、 Adenomatous polyposis coli 、 Allele 、 MUTYH-Associated Polyposis 、 Medicine 、 Genetics
摘要: Germline mutations of the MYH gene have been revealed to associate with recessive inheritance multiple colorectal adenomas in Caucasian population. However, Japanese patients not yet clarified. In an assessment mutations, we examined 35 who had neither dominant tumors, nor germline APC mutations. One patient a homozygous biallelic mutation, R231C and three independent monoallelic at splice-site on exon 11 (IVS10-2 A G). These four 21 around 100 1-3 synchronous carcinomas. The most common patients, Y165C G382D, were detected our cases. novel different from those among Caucasian, Indian Pakistani which suggests existence ethnic differentiation
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