Article
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
International journal of cancer - 15 Apr 2006
Russell Anna M, Zhang Jian, Luz Judith, Hutter Pierre, Chappuis Pierre O, Berthod Claudine Rey, Maillet Philippe, Mueller Hansjakob, Heinimann Karl
Abstract excerpt
In 10-30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (APC) gene can be identified (APC mutation-negative). Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma...
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