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Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review.
Cancer. 1996 Sep 15; 78(6):1149-67.C

Abstract

BACKGROUND

Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Aldred Warthin's description of Family G a century ago. The phenotype features an excess of early onset colorectal carcinoma (CRC) with a propensity to involve the proximal colon, and a variety of extracolonic cancers, particularly carcinoma of the endometrium, ovary, stomach, small bowel, ureter, and renal pelvis. The recent discovery that HNPCC patients carry germline mutations in DNA mismatch repair genes has engendered great interest in the syndrome.

METHODS

This is a description of HNPCC based on the authors' experience with more than 170 families and a review of the world literature.

RESULTS

This review describes the genotypic and phenotypic features of HNPCC. The distinctive natural history of the syndrome is discussed in light of the recent discovery that ineffective DNA mismatch repair is the principal abnormality in affected individuals.

CONCLUSIONS

Clinical and molecular genetic knowledge about HNPCC is now available to physicians, and should enable them to provide highly targeted surveillance and management for patients with a high cancer risk. Genetic counseling can prove lifesaving. The study of HNPCC will likely contribute to knowledge about the causes and control of common forms of cancer in the general population.

Authors+Show Affiliations

Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska, USA.No affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

8826936

Citation

Lynch, H T., and T Smyrk. "Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome). an Updated Review." Cancer, vol. 78, no. 6, 1996, pp. 1149-67.
Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149-67.
Lynch, H. T., & Smyrk, T. (1996). Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer, 78(6), 1149-67.
Lynch HT, Smyrk T. Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome). an Updated Review. Cancer. 1996 Sep 15;78(6):1149-67. PubMed PMID: 8826936.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. AU - Lynch,H T, AU - Smyrk,T, PY - 1996/9/15/pubmed PY - 2000/6/20/medline PY - 1996/9/15/entrez SP - 1149 EP - 67 JF - Cancer JO - Cancer VL - 78 IS - 6 N2 - BACKGROUND: Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Aldred Warthin's description of Family G a century ago. The phenotype features an excess of early onset colorectal carcinoma (CRC) with a propensity to involve the proximal colon, and a variety of extracolonic cancers, particularly carcinoma of the endometrium, ovary, stomach, small bowel, ureter, and renal pelvis. The recent discovery that HNPCC patients carry germline mutations in DNA mismatch repair genes has engendered great interest in the syndrome. METHODS: This is a description of HNPCC based on the authors' experience with more than 170 families and a review of the world literature. RESULTS: This review describes the genotypic and phenotypic features of HNPCC. The distinctive natural history of the syndrome is discussed in light of the recent discovery that ineffective DNA mismatch repair is the principal abnormality in affected individuals. CONCLUSIONS: Clinical and molecular genetic knowledge about HNPCC is now available to physicians, and should enable them to provide highly targeted surveillance and management for patients with a high cancer risk. Genetic counseling can prove lifesaving. The study of HNPCC will likely contribute to knowledge about the causes and control of common forms of cancer in the general population. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/8826936/Hereditary_nonpolyposis_colorectal_cancer__Lynch_syndrome___An_updated_review_ L2 - http://www.diseaseinfosearch.org/result/3371 DB - PRIME DP - Unbound Medicine ER -