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Hereditary nonpolyposis colorectal cancer (Lynch syndrome): An updated review
Author(s) -
Lynch Henry T.,
Smyrk Thomas
Publication year - 1996
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/(sici)1097-0142(19960915)78:6<1149::aid-cncr1>3.0.co;2-5
Subject(s) - medicine , lynch syndrome , colorectal cancer , cancer , population , dna mismatch repair , germline mutation , genetic counseling , oncology , genetics , mutation , gene , biology , environmental health
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. Cancer 1997;78:1149‐67.