title: Genetic predisposition to colorectal cancer: Implications for treatment and prevention.
abstract: Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50%-80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining which patients should be referred for clinical genetic evaluation. Outcomes of genetic testing performed using next-generation sequencing (NGS) multigene panels suggest there can be significant overlap in clinical features among the various hereditary cancer syndromes. This review summarizes new developments in diagnosis and management of patients with genetic predisposition to CRC.
authors.affiliation: University of Michigan Health System, Ann Arbor, MI. Electronic address: estoffel@med.umich.edu.
authors.forename: Elena M
authors.initials: EM
authors.lastname: Stoffel
authors.affiliation: Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Yurgelun
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D018890:Chemoprevention; D015179:Colorectal Neoplasms / Q000209:etiology / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D018570:Risk Assessment
keywords: Colorectal cancer; Genetics; Hereditary cancer; Microsatellite instability