Mismatch repair genes in Lynch syndrome: a review
Autor(a) principal: | |
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Data de Publicação: | 2009 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802009000100010 |
Resumo: | 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. |
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Mismatch repair genes in Lynch syndrome: a reviewLynch syndromeHereditary nonpolyposis colorectal cancerDNA repairMutationCancerLynch 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.Associação Paulista de Medicina - APM2009-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802009000100010Sao Paulo Medical Journal v.127 n.1 2009reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802009000100010info:eu-repo/semantics/openAccessSilva,Felipe Cavalcanti Carneiro daValentin,Mev DominguezFerreira,Fábio de OliveiraCarraro,Dirce MariaRossi,Benedito Mauroeng2009-05-11T00:00:00Zoai:scielo:S1516-31802009000100010Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2009-05-11T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Mismatch repair genes in Lynch syndrome: a review |
title |
Mismatch repair genes in Lynch syndrome: a review |
spellingShingle |
Mismatch repair genes in Lynch syndrome: a review Silva,Felipe Cavalcanti Carneiro da Lynch syndrome Hereditary nonpolyposis colorectal cancer DNA repair Mutation Cancer |
title_short |
Mismatch repair genes in Lynch syndrome: a review |
title_full |
Mismatch repair genes in Lynch syndrome: a review |
title_fullStr |
Mismatch repair genes in Lynch syndrome: a review |
title_full_unstemmed |
Mismatch repair genes in Lynch syndrome: a review |
title_sort |
Mismatch repair genes in Lynch syndrome: a review |
author |
Silva,Felipe Cavalcanti Carneiro da |
author_facet |
Silva,Felipe Cavalcanti Carneiro da Valentin,Mev Dominguez Ferreira,Fábio de Oliveira Carraro,Dirce Maria Rossi,Benedito Mauro |
author_role |
author |
author2 |
Valentin,Mev Dominguez Ferreira,Fábio de Oliveira Carraro,Dirce Maria Rossi,Benedito Mauro |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Silva,Felipe Cavalcanti Carneiro da Valentin,Mev Dominguez Ferreira,Fábio de Oliveira Carraro,Dirce Maria Rossi,Benedito Mauro |
dc.subject.por.fl_str_mv |
Lynch syndrome Hereditary nonpolyposis colorectal cancer DNA repair Mutation Cancer |
topic |
Lynch syndrome Hereditary nonpolyposis colorectal cancer DNA repair Mutation Cancer |
description |
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. |
publishDate |
2009 |
dc.date.none.fl_str_mv |
2009-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802009000100010 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802009000100010 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31802009000100010 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.127 n.1 2009 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209262485110784 |