Hereditary nonpolyposis colorectal cancer: Review of clinical, molecular genetics, and counseling aspects

Alfonso Bellacosa, Maurizio Genuardi, Marcello Anti, Alessandra Viel, Maurizio Ponz De Leon

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)353-364
Number of pages12
JournalAmerican Journal of Medical Genetics
Volume62
Issue number4
DOIs
Publication statusPublished - Apr 24 1996

Keywords

  • colorectal cancer
  • hereditary tumors
  • mismatch repair

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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