An update of HNPCC (Lynch syndrome)

Cancer Genet Cytogenet. 1997 Jan;93(1):84-99. doi: 10.1016/s0165-4608(96)00290-7.

Abstract

Genetic epidemiology studies of colorectal cancer (CRC) can identify persons who are at inordinately high risk and who thereby might benefit from targeted early detection and primary prevention programs, inclusive of prophylactic surgery in selected cases. The discipline of molecular genetics has identified germline mutations that include APC in familial adenomatous polyposis (FAP) and mutator genes, namely MSH2, MLH1, PMS1, and PMS2 in hereditary nonpolyposis colorectal cancer (HNPCC). These discoveries have significantly enhanced our ability to identify individuals whose cancer destiny can literally be determined at birth. This review updates HNPCC's differential diagnosis, heterogeneity, tumor spectrum, newly found evidence of accelerated colonic adenoma to CRC, survival advantage, and currently available surveillance and management programs. Emphasis has been on how knowledge of the genetics and natural history of HNPCC can be used effectively to promote early diagnosis or prevention of cancer.

Publication types

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

MeSH terms

  • Adenomatous Polyposis Coli / epidemiology
  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / history
  • Adenomatous Polyposis Coli / prevention & control
  • Adult
  • Age of Onset
  • Aged
  • Chromosome Mapping
  • Colectomy
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / history
  • Colorectal Neoplasms, Hereditary Nonpolyposis / prevention & control
  • DNA Repair / genetics
  • Female
  • Genes, APC
  • Genetic Testing / standards
  • Germ-Line Mutation / genetics
  • History, 19th Century
  • History, 20th Century
  • Humans
  • Male
  • Medical Oncology
  • Middle Aged
  • Pedigree
  • Societies, Medical