Abstract
Early-onset multiple colorectal adenomas or a colorectal adenomatous polyposis is a common, but until recently not well-recognized, feature in the majority of patients with constitutional MMR deficiency (CMMRD), a recessively inherited condition caused by biallelic germline mutations in MMR genes, in particular in cases with PMS2 and MSH6 mutations. Adenomatous polyps occur in both the small intestine and large bowel, the gastrointestinal manifestations are extremely variable in numbers and age of onset, and the family history is often inconspicuous regarding LS-associated cancers. In particular the presence of high-grade dysplasia, early-onset cancer, and café-au-lait macules distinguishes this syndrome from ordinary adenomatous polyposis forms. An attenuated adenomatous colorectal and duodenal polyposis was also present in all individuals with a novel rare, autosomal recessive polyposis syndrome caused by biallelic MSH3 germline mutations and characterized by a specific type of microsatellite instability (EMAST) in tumor tissue.
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Aretz, S., Nielsen, M. (2018). Adenomatous Polyposis Syndromes: Germline Biallelic Inactivation of Mismatch Repair Genes. In: Valle, L., Gruber, S., Capellá, G. (eds) Hereditary Colorectal Cancer. Springer, Cham. https://doi.org/10.1007/978-3-319-74259-5_11
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DOI: https://doi.org/10.1007/978-3-319-74259-5_11
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