منابع مشابه
MUTYH Associated Polyposis (MAP)
MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes. Especially from Familial Adenomatous Polyposis (FAP) and to a lesser extend Lynch Syndrome, which are caused by germline mutati...
متن کاملMUTYH- Associated Polyposis
Lynch syndrome and familial adenomatous polyposis (FAP) have long been identifi ed as hereditary predisposition syndromes to colorectal cancer (CRC), most easily recognized on the basis of their autosomal dominant inheritance, young age of onset of CRC and other associated malignancies, and, in the case of FAP, the presence of adenomatous polyposis. However, in 2002 the fi rst report of a novel...
متن کاملEstablishing a diagnostic road map for MUTYH-associated polyposis.
The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data.
متن کاملHereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis
MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment, and the subtle differences between it and its close cousins-FAP and AFAP. The preponderance...
متن کاملAdenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are inherited disorders associated with multiple colorectal adenomas that lead to a very high risk of colorectal cancer. The somatic mutations that drive adenoma development in these conditions have not been investigated comprehensively. In this study we performed analysis of paired colorectal adenoma and normal tissue DN...
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ژورنال
عنوان ژورنال: Terapevticheskii arkhiv
سال: 2019
ISSN: 2309-5342,0040-3660
DOI: 10.26442/00403660.2019.02.000124