Document Detail


Mismatch repair genes in Lynch syndrome: a review.
MedLine Citation:
PMID:  19466295     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog 2 (MSH2); mutL homolog 1 (MLH1); mutS homolog 6 (MSH6); postmeiotic segregation increased 2 (PMS2); and postmeiotic segregation increased 1 (PMS1). It has been proposed that one additional mismatch repair gene, mutL homolog 3 (MLH3), also plays a role in Lynch syndrome predisposition, but the clinical significance of mutations in this gene is less clear. According to the InSiGHT database (International Society for Gastrointestinal Hereditary Tumors), approximately 500 different LS-associated mismatch repair gene mutations are known, primarily involving MLH1 (50%) and MSH2 (40%), while others account for 10%. Much progress has been made in understanding the molecular basis of Lynch Syndrome. Molecular characterization will be the most accurate way of defining Lynch syndrome and will provide predictive information of greater accuracy regarding the risks of colon and extracolonic cancer and enable optimal cancer surveillance regimens.
Authors:
Felipe Cavalcanti Carneiro da Silva; Mev Dominguez Valentin; Fábio de Oliveira Ferreira; Dirce Maria Carraro; Benedito Mauro Rossi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  São Paulo medical journal = Revista paulista de medicina     Volume:  127     ISSN:  1806-9460     ISO Abbreviation:  Sao Paulo Med J     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-05-25     Completed Date:  2009-11-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100897261     Medline TA:  Sao Paulo Med J     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  46-51     Citation Subset:  IM    
Affiliation:
Hospital AC Camargo, São Paulo, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
DNA Mismatch Repair / genetics*
Germ-Line Mutation / genetics
Humans

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