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Colorectal Cancer Genetics and Hereditary Colorectal Cancer Syndromes for the Practicing General Surgeon
Jared R Hendren1, Josh Sommovilla2, Scott R Steele2
1Department of General Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA; Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA.
Abstract:
Colorectal cancer (CRC) genetics carries important clinical implications for the screening, diagnosis, and management of patients and their families. All CRCs should undergo universal tumor screening, preoperatively whenever possible, to assess for mismatch repair deficiency. Additionally, germline genetic testing plays an integral role in diagnosing polyposis and nonpolyposis hereditary CRC syndromes; therefore, understanding genetic testing criteria is critical to identify patients with these syndromes. Management of patients with hereditary CRC syndromes is complex and requires lifelong surveillance and multidisciplinary care to minimize death from cancer and to maximize quality-of-life preservation.
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