Hereditary nonpolyposis colorectal cancer (Lynch syndrome)

An updated review

Henry T. Lynch, Thomas Smyrk

Research output: Contribution to journalReview article

454 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1149-1167
Number of pages19
JournalCancer
Volume78
Issue number6
DOIs
StatePublished - Sep 15 1996

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Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
Neoplasms
Kidney Pelvis
Germ-Line Mutation
Genetic Counseling
Endometrial Neoplasms
Ureter
Molecular Biology
Colorectal Neoplasms
Ovary
Stomach
Colon
Physicians
Phenotype
Population
Genes

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Hereditary nonpolyposis colorectal cancer (Lynch syndrome) : An updated review. / Lynch, Henry T.; Smyrk, Thomas.

In: Cancer, Vol. 78, No. 6, 15.09.1996, p. 1149-1167.

Research output: Contribution to journalReview article

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