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[From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma].
Ned Tijdschr Geneeskd. 2001 Apr 21; 145(16):780-2.NT

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+Show Affiliations

Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden.No affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dut

PubMed ID

11346916

Citation

Wijnen, J T., et al. "[From Gene to Disease; From DNA 'mismatch' Repair Genes to Hereditary Non-polyposis Colorectal Carcinoma]." Nederlands Tijdschrift Voor Geneeskunde, vol. 145, no. 16, 2001, pp. 780-2.
Wijnen JT, Morreau H, Vasen HF. [From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma]. Ned Tijdschr Geneeskd. 2001;145(16):780-2.
Wijnen, J. T., Morreau, H., & Vasen, H. F. (2001). [From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma]. Nederlands Tijdschrift Voor Geneeskunde, 145(16), 780-2.
Wijnen JT, Morreau H, Vasen HF. [From Gene to Disease; From DNA 'mismatch' Repair Genes to Hereditary Non-polyposis Colorectal Carcinoma]. Ned Tijdschr Geneeskd. 2001 Apr 21;145(16):780-2. PubMed PMID: 11346916.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma]. AU - Wijnen,J T, AU - Morreau,H, AU - Vasen,H F, PY - 2001/5/12/pubmed PY - 2001/6/2/medline PY - 2001/5/12/entrez SP - 780 EP - 2 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 145 IS - 16 N2 - 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. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/11346916/[From_gene_to_disease DB - PRIME DP - Unbound Medicine ER -