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 of data is collected using MAP guidelines. However, although AFAP and MAP appear similar, potentially important distinctions exist, warranting targeted diagnostic criteria and treatment approaches. We suggest that it may be prudent to screen for MAP earlier than in current clinical practice, as it has been shown that sequence variants are associated with more severe disease, presenting with an earlier onset of colorectal cancer. Finally, we issue a call-to-action for much-needed further data to establish clear clinical and diagnostic criteria.
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http://dx.doi.org/10.1155/2017/8693182 | DOI Listing |
Colorectal cancer (CRC) is the third most common type of cancer in Switzerland in terms of annual new cases and cancer deaths. Since most cantons have an organized screening program, more people are recorded with a positive family history of CRC. In the majority, the familial form of CRC is present, a hereditary form is much less common.
View Article and Find Full Text PDFAnn Lab Med
January 2025
Division of Rare and Refractory Cancer, Targeted Therapy Branch of Research Institute, National Cancer Center, Goyang, Korea.
Background: -associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of -associated polyposis in East Asian and Korean populations, for which limited data were previously available.
Methods: We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database.
Genetics
October 2024
Department of Genome Sciences, University of Washington, 3720 15th Ave NE, Seattle, WA 98195 USA.
Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic mutation. Defects in one such gene, MUTYH, are known to elevate the incidence of colorectal cancer in a recessive Mendelian manner. Recent evidence has also linked MUTYH to a mutator phenotype affecting normal somatic cells as well as the female germline.
View Article and Find Full Text PDFEndosc Int Open
October 2024
Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, United States.
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