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Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects.
Am J Med Genet. 1996 Apr 24; 62(4):353-64.AJ

Abstract

Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal-dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings.

Authors+Show Affiliations

Istituti di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, Università Cattolica S. Cuore, Roma, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

8723065

Citation

Bellacosa, A, et al. "Hereditary Nonpolyposis Colorectal Cancer: Review of Clinical, Molecular Genetics, and Counseling Aspects." American Journal of Medical Genetics, vol. 62, no. 4, 1996, pp. 353-64.
Bellacosa A, Genuardi M, Anti M, et al. Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet. 1996;62(4):353-64.
Bellacosa, A., Genuardi, M., Anti, M., Viel, A., & Ponz de Leon, M. (1996). Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. American Journal of Medical Genetics, 62(4), 353-64.
Bellacosa A, et al. Hereditary Nonpolyposis Colorectal Cancer: Review of Clinical, Molecular Genetics, and Counseling Aspects. Am J Med Genet. 1996 Apr 24;62(4):353-64. PubMed PMID: 8723065.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. AU - Bellacosa,A, AU - Genuardi,M, AU - Anti,M, AU - Viel,A, AU - Ponz de Leon,M, PY - 1996/4/24/pubmed PY - 2000/6/20/medline PY - 1996/4/24/entrez SP - 353 EP - 64 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 62 IS - 4 N2 - Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal-dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8723065/Hereditary_nonpolyposis_colorectal_cancer:_review_of_clinical_molecular_genetics_and_counseling_aspects_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=4&spage=353 DB - PRIME DP - Unbound Medicine ER -