Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

Detalhes bibliográficos
Autor(a) principal: Conde, João
Data de Publicação: 2009
Outros Autores: Silva, Susana N., Azevedo, Ana P, Teixeira, Valdemar, Esperança Pina,  Julieta, Rueff, José, Gaspar, Jorge F
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/22415
Resumo: We wish to thank our colleague Prof. Antonio S. Rodrigues for expert scrutiny of the manuscript. Our appreciation and thanks are extended to Luisa Manso Oliveira, Lylliane Luz, Silvia Morgado Amaro and Maria Catarina Soveral for technical support, and Claudia Leiras for the critical reading of the manuscript. Center for Research in Human Molecular Genetics (CIGMH), Projects POCTI/QUI/57110/2004 from Fundacao da Ciencia e Tecnologia (FCT) and Fundacao Calouste Gulbenkian ( Grant 69405) support our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.
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spelling Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene studyPOLYMORPHISMSLUNGMICROSATELLITE INSTABILITYRISKBRCA2DNAMECHANISMSMLH3HMSH2CARCINOMALung cancerEndobronchial ultrasoundEndoscopic ultrasoundFine needle aspirationDiagnosisSDG 3 - Good Health and Well-beingWe wish to thank our colleague Prof. Antonio S. Rodrigues for expert scrutiny of the manuscript. Our appreciation and thanks are extended to Luisa Manso Oliveira, Lylliane Luz, Silvia Morgado Amaro and Maria Catarina Soveral for technical support, and Claudia Leiras for the critical reading of the manuscript. Center for Research in Human Molecular Genetics (CIGMH), Projects POCTI/QUI/57110/2004 from Fundacao da Ciencia e Tecnologia (FCT) and Fundacao Calouste Gulbenkian ( Grant 69405) support our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.Background: MMR is responsible for the repair of base-base mismatches and insertion/deletion loops. Besides this, MMR is also associated with an anti-recombination function, suppressing homologous recombination. Losses of heterozygosity and/or microsatellite instability have been detected in a large number of skin samples from breast cancer patients, suggesting a potential role of MMR in breast cancer susceptibility. Methods: We carried out a hospital-based case-control study in a Caucasian Portuguese population ( 287 cases and 547 controls) to estimate the susceptibility to non-familial breast cancer associated with some polymorphisms in mismatch repair genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 and MUTYH). Results: Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) ( p = 0.03) and OR = 0.62 (0.41-0.94) ( p = 0.03), respectively. Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [ OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [ OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [ OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [ adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. Conclusion: It is possible that some of these common variants in MMR genes contribute significantly to breast cancer susceptibility. However, further studies with a large sample size will be needed to support our results.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNConde, JoãoSilva, Susana N.Azevedo, Ana PTeixeira, ValdemarEsperança Pina,  JulietaRueff, JoséGaspar, Jorge F2017-08-02T22:00:51Z2009-092009-09-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article8application/pdfhttp://hdl.handle.net/10362/22415eng1471-2407PURE: 299939https://doi.org/10.1186/1471-2407-9-344info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T04:09:55Zoai:run.unl.pt:10362/22415Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:27:17.241263Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
title Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
spellingShingle Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
Conde, João
POLYMORPHISMS
LUNG
MICROSATELLITE INSTABILITY
RISK
BRCA2
DNA
MECHANISMS
MLH3
HMSH2
CARCINOMA
Lung cancer
Endobronchial ultrasound
Endoscopic ultrasound
Fine needle aspiration
Diagnosis
SDG 3 - Good Health and Well-being
title_short Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
title_full Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
title_fullStr Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
title_full_unstemmed Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
title_sort Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
author Conde, João
author_facet Conde, João
Silva, Susana N.
Azevedo, Ana P
Teixeira, Valdemar
Esperança Pina,  Julieta
Rueff, José
Gaspar, Jorge F
author_role author
author2 Silva, Susana N.
Azevedo, Ana P
Teixeira, Valdemar
Esperança Pina,  Julieta
Rueff, José
Gaspar, Jorge F
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Conde, João
Silva, Susana N.
Azevedo, Ana P
Teixeira, Valdemar
Esperança Pina,  Julieta
Rueff, José
Gaspar, Jorge F
dc.subject.por.fl_str_mv POLYMORPHISMS
LUNG
MICROSATELLITE INSTABILITY
RISK
BRCA2
DNA
MECHANISMS
MLH3
HMSH2
CARCINOMA
Lung cancer
Endobronchial ultrasound
Endoscopic ultrasound
Fine needle aspiration
Diagnosis
SDG 3 - Good Health and Well-being
topic POLYMORPHISMS
LUNG
MICROSATELLITE INSTABILITY
RISK
BRCA2
DNA
MECHANISMS
MLH3
HMSH2
CARCINOMA
Lung cancer
Endobronchial ultrasound
Endoscopic ultrasound
Fine needle aspiration
Diagnosis
SDG 3 - Good Health and Well-being
description We wish to thank our colleague Prof. Antonio S. Rodrigues for expert scrutiny of the manuscript. Our appreciation and thanks are extended to Luisa Manso Oliveira, Lylliane Luz, Silvia Morgado Amaro and Maria Catarina Soveral for technical support, and Claudia Leiras for the critical reading of the manuscript. Center for Research in Human Molecular Genetics (CIGMH), Projects POCTI/QUI/57110/2004 from Fundacao da Ciencia e Tecnologia (FCT) and Fundacao Calouste Gulbenkian ( Grant 69405) support our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.
publishDate 2009
dc.date.none.fl_str_mv 2009-09
2009-09-01T00:00:00Z
2017-08-02T22:00:51Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/22415
url http://hdl.handle.net/10362/22415
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1471-2407
PURE: 299939
https://doi.org/10.1186/1471-2407-9-344
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 8
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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