title: [From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma].
abstract: Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is the most common autosomal dominant condition associated with early-onset colorectal cancer and the occurrence of cancer at other anatomical sites, i.e. endometrium, stomach, small intestine, urinary tract and ovaries, at an early age. Germline mutations in one of five DNA mismatch repair genes: MSH2, MLH1, PMS1, PMS2, and MSH6, predispose to HNPCC. Tumours of HNPCC patients display a high level of genomic instability, usually observed as changes in repeat numbers of simple repetitive sequences (microsatellite instability), which is a reflection of the malfunction of the DNA mismatch repair machinery.
authors.affiliation: Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden.
authors.forename: J T
authors.initials: JT
authors.lastname: Wijnen
authors.forename: H
authors.initials: H
authors.lastname: Morreau
authors.forename: H F
authors.initials: HF
authors.lastname: Vasen
mesh_terms: D017668:Age of Onset; D020137:Base Pair Mismatch / Q000235:genetics*; D003110:Colonic Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D004260:DNA Repair / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009426:Netherlands / Q000453:epidemiology; D010051:Ovarian Neoplasms / Q000235:genetics; D012004:Rectal Neoplasms / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics; D014571:Urologic Neoplasms / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm