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 journalArticle

74 Citations (Scopus)

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

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
Genetic Counseling
Molecular Biology
DNA Mismatch Repair
Microsatellite Instability
Germ-Line Mutation
Mutation Rate
DNA Repair
Colorectal Neoplasms
Phenotype
Mutation
Genes
Neoplasms
Proteins

Keywords

  • colorectal cancer
  • hereditary tumors
  • mismatch repair

ASJC Scopus subject areas

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

Cite this

Hereditary nonpolyposis colorectal cancer : Review of clinical, molecular genetics, and counseling aspects. / Bellacosa, Alfonso; Genuardi, Maurizio; Anti, Marcello; Viel, Alessandra; Ponz De Leon, Maurizio.

In: American Journal of Medical Genetics, Vol. 62, No. 4, 24.04.1996, p. 353-364.

Research output: Contribution to journalArticle

Bellacosa, Alfonso ; Genuardi, Maurizio ; Anti, Marcello ; Viel, Alessandra ; Ponz De Leon, Maurizio. / Hereditary nonpolyposis colorectal cancer : Review of clinical, molecular genetics, and counseling aspects. In: American Journal of Medical Genetics. 1996 ; Vol. 62, No. 4. pp. 353-364.
@article{32af73d1a2f94eae91d7d80002cce6c3,
title = "Hereditary nonpolyposis colorectal cancer: Review of clinical, molecular genetics, and counseling aspects",
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.",
keywords = "colorectal cancer, hereditary tumors, mismatch repair",
author = "Alfonso Bellacosa and Maurizio Genuardi and Marcello Anti and Alessandra Viel and {Ponz De Leon}, Maurizio",
year = "1996",
month = "4",
day = "24",
doi = "10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S",
language = "English",
volume = "62",
pages = "353--364",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Hereditary nonpolyposis colorectal cancer

T2 - Review of clinical, molecular genetics, and counseling aspects

AU - Bellacosa, Alfonso

AU - Genuardi, Maurizio

AU - Anti, Marcello

AU - Viel, Alessandra

AU - Ponz De Leon, Maurizio

PY - 1996/4/24

Y1 - 1996/4/24

N2 - 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.

AB - 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.

KW - colorectal cancer

KW - hereditary tumors

KW - mismatch repair

UR - http://www.scopus.com/inward/record.url?scp=0029985255&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029985255&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S

DO - 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S

M3 - Article

C2 - 8723065

AN - SCOPUS:0029985255

VL - 62

SP - 353

EP - 364

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -