Genetic predisposition to colorectal cancer.
High-penetrance mutations in several genes have been identified that contribute to hereditary colorectal cancer. The role of these mutations in cancer pathogenesis is well understood and their detection is successfully used in clinical diagnosis. In stark contrast, our understanding of the influence of low-penetrance mutations that account for most of the remaining familial cases of colorectal cancer, as well as an unknown proportion of sporadic cases, is far less advanced. Extensive ongoing research into low-penetrance, multifactorial predisposition to colorectal cancer is now beginning to bear fruit, with important implications for understanding disease aetiology and developing new diagnostic, preventive and therapeutic strategies.
de la Chapelle
Albert
A
Human Cancer Genetics Program, The Ohio State University, 646 Tzagournis Medical Research Facility, 420 W. 12th Avenue, Columbus, Ohio 43210, USA. delachapelle-1@medctr.osu.edu
D011125:Adenomatous Polyposis Coli / Q000235:genetics; D020137:Base Pair Mismatch; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics; D004260:DNA Repair / Q000235:genetics; D017491:Genes, APC; D016163:Genes, DCC; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D009928:Organ Specificity; D019683:Penetrance; D012307:Risk Factors