MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. The review presents modern algorithms for diagnostic and treatment of the disease.
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| http://dx.doi.org/10.26442/00403660.2019.02.000124 | DOI Listing |
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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 PDFCarrier Frequency and Incidence of -Associated Polyposis Based on Database Analysis in East Asians and Koreans.
Ann 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.
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
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 PDFAdditional 30-second observation of the right-sided colon for missed polyp detection with linked color imaging compared with narrow band imaging.
Endosc Int Open
October 2024
Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, United States.
Article Synopsis
- The study evaluated the effectiveness of a 30-second additional observation using either linked color imaging (LCI) or narrow band imaging (NBI) for detecting adenomas in the right-sided colon, finding both methods improve detection rates.
- Researchers analyzed data from over 2,000 cases, comparing the performance of LCI and NBI after initial white light imaging.
- Results showed no significant difference in adenoma detection between the two imaging techniques, but both significantly enhanced the adenoma detection rate (ADR) in the right colon.
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