[Genetic and molecular biology techniques for the analysis of hereditary colorectal cancer].
The knowledge acquired in genetics and molecular biology over the last 2 decades has led to advances in the molecular diagnosis of some diseases, among them hereditary forms of colorectal cancer such as hereditary non-polyposis colorectal cancer and familial adenomatous polyposis. Moreover, the discovery of the genes causing these diseases has had implications beyond hereditary diseases since the same genes that cause hereditary forms of cancer also play a role in the much more frequent sporadic forms. Genetic diagnosis allows clinical diagnosis to be confirmed, as well as presymptomatic and even prenatal diagnoses to be made, with implications for patients with these hereditary diseases and their families.
Castellví-Bel
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Servicio de Gastroenterología, Institut de Malalties Digestives, Hospital Clínic, Barcelona, España. castells@clinic.ub.es
Castells
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D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics; D000465:Algorithms; D003111:Colonic Polyps / Q000175:diagnosis / Q000235:genetics; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics; D017491:Genes, APC; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005826:Genetics, Medical / Q000379:methods*; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*