An update of HNPCC (Lynch syndrome)

Henry T. Lynch, Thomas Smyrk, Jane Lynch

Research output: Contribution to journalArticlepeer-review

182 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)84-99
Number of pages16
JournalCancer Genetics and Cytogenetics
Issue number1
StatePublished - Jan 1997

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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