title: Genetic alteration in hereditary colorectal cancer.
abstract: Colorectal cancer is a major cause of morbidity and mortality. Both genetic and environmental factors contribute to cancer aetiology. About 15-20% of all colorectal cancers are familial. Approximately 6% of colorectal cancers can be attributed to recognizable heritable germline mutations. The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counselling. Genetic testing for hereditary forms of colorectal cancer can confirm or reject diagnoses at the molecular level, determine surveillance intervals for at-risk persons, decrease the cost of surveillance by risk stratification, aid in surgical and chemoprevention decision-making, and help patients in family and career planning. This paper reviews the genetics behind genes and molecular study of the hereditary colorectal cancer. This may help the medical professionals especially internists, gastroenterologists, and oncologists to update their knowledge in this field.
authors.affiliation: Department of Surgical Sciences, University of Insubria, Viale Borri 57, 21100 Varese, Italy. gianlorenzo.dionigi@uninsubria.it
authors.forename: G
authors.initials: G
authors.lastname: Dionigi
authors.forename: V
authors.initials: V
authors.lastname: Bianchi
authors.forename: F
authors.initials: F
authors.lastname: Rovera
authors.forename: L
authors.initials: L
authors.lastname: Boni
authors.forename: M
authors.initials: M
authors.lastname: Annoni
authors.forename: P
authors.initials: P
authors.lastname: Castano
authors.forename: F
authors.initials: F
authors.lastname: Villa
authors.forename: R
authors.initials: R
authors.lastname: Dionigi
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000251:Adenosine Triphosphatases / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D017491:Genes, APC; D006801:Humans; D008403:Mass Screening; D000070976:Mismatch Repair Endonuclease PMS2; D000070956:MutL Proteins; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; C088996:PMS1 protein, human; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070956:MutL Proteins; D045643:DNA Repair Enzymes