The first cohort contained 1522 individuals who received MUTYH analysis for two FMs with subsequent full-gene sequencing. Eighty-five biallelic individuals were identified; 47 carried two FMs, 17 carried one FM and one mutation identified on full sequencing, and 21 carried biallelic mutations ...
MUTATION (Biology)COLON tumorsDNA sequencingALLELESGERM cellsGENETIC aspectsIn 锟斤拷30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC , MUTYH , POLE , POLD1 , and NTHL1 , although a hereditary etiology is...
Publication » S1983 Phenotypic Differences Between APC and Biallelic MUTYH Mutation Carriers in 1193 Individuals With Attenuated Polyposis.doi:10.1016/S0016-5085(10)61354-6Grover, ShilpaDewanwala, AkritiSyngal, SapnaElsevier Inc.Gastroenterology