Titlebook: Hereditary Colorectal Cancer; Genetic Basis and Cl Laura Valle,Stephen B. Gruber,Gabriel Capellá Book 2018 Springer International Publishin

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Mismatch Repair-Proficient Hereditary Nonpolyposis Colorectal Cancerdentification of the genes associated with hereditary colorectal cancer would facilitate the molecular diagnosis of the disease and the development of appropriate surveillance guidelines and clinical management protocols for these patients. However, as will be discussed in this chapter, the identification of causal genes has not proven easy.

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Hereditary Mixed Polyposis Syndrome 16?kb also upstream of . has been reported in a Swedish HMPS family. Presymptomatic genetic testing is now available in these families, and affected individuals require careful colonoscopic surveillance from an early age, with polypectomy to prevent the development of colorectal cancer.

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Book 2018cated to, or interested in,? hereditary cancer.? The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues..

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Adenomatous Polyposis Syndromes: Germline Biallelic Inactivation of Mismatch Repair Genes An attenuated adenomatous colorectal and duodenal polyposis was also present in all individuals with a novel rare, autosomal recessive polyposis syndrome caused by biallelic . germline mutations and characterized by a specific type of microsatellite instability (EMAST) in tumor tissue.

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Genetic Testing in Hereditary Colorectal Cancerting is also discussed due to its relevance in new clinical scenarios where novel target therapies are introduced for particular genetic conditions. Altogether, we highlight the importance of creating multidisciplinary committees to interpret genetic and genomic results and translate them into good laboratory practice and clinical guidelines.

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