The Evolution of Colorectal Cancer Genetics-Part 2: Clinical Implications and Applications | FAPvoice

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The Evolution of Colorectal Cancer Genetics-Part 2: Clinical Implications and Applications

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source: Journal of gastrointestinal oncology

year: 2014

authors: Schlussel A T, Gagliano R A Jr, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J, Lynch H T


The genetic understanding of colorectal cancer (CRC) continues to grow, and it is now estimated that 10% of the population has a known hereditary CRC syndrome. This article will examine the evolving surgical and medical management of hereditary CRC syndromes, and the impact of tumor genetics on therapy. This review will focus on the most common hereditary CRC-prone diseases seen in clinical practice, which include Lynch syndrome (LS), familial adenomatous polyposis (FAP) & attenuated FAP (AFAP), MutYH-associated polyposis (MAP), and serrated polyposis syndrome (SPS). Each section will review the current recommendations in the evaluation and treatment of these syndromes, as well as review surgical management and operative planning. A highly detailed multigeneration cancer family history with verified genealogy and pathology documentation whenever possible, coupled with germline mutation testing when indicated, is critically important to management decisions. Although caring for patients with these syndromes remains complex, the application of this knowledge facilitates better treatment of both individuals and their affected family members for generations to come.

organisation: Tripler Army Medical Center, University of Arizona Cancer Center, Huntington Medical Research Institutes, Ohana Genetics Inc, University of Hawaii, Creighton University School of Medicine

DOI: 10.3978/j.issn.2078-6891.2014.068

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