DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms

Detalhes bibliográficos
Autor(a) principal: Azevedo, Ana P.
Data de Publicação: 2017
Outros Autores: Silva, Susana N., Lima, João P. de, Reichert, Alice, Lima, Fernando, Júnior, Esmeraldina, Rueff, José
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.26/19326
Resumo: Sob uma licença CC-BY-NC-ND - http://creativecommons.org/licenses/by-nc-nd/4.0/
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spelling DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphismsPhiladelphia-negative myeloproliferative neoplasmsGenetic susceptibilityBase excision repair genes polymorphismsDNA repairSob uma licença CC-BY-NC-ND - http://creativecommons.org/licenses/by-nc-nd/4.0/The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8‑oxoguanine DNA glycosylase 1, poly (ADP‑ribose) polymerase (PARP) 1, PARP4 and X‑ray repair cross‑complementing 1 (XRCC1)] in a case‑control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN‑MPNs when considered as a whole. However, stratification for essential thrombocythaemia revealed i) borderline effect/tendency to increased risk when carrying at least one variant allele for XRCC1_399 single‑nucleotide polymorphism (SNP); ii) decreased risk for Janus kinase 2‑positive patients carrying at least one variant allele for XRCC1_399 SNP; and iii) decreased risk in females carrying at least one variant allele for MUTYH SNP. Combination of alleles demonstrated an increased risk to PN‑MPNs for one specific haplogroup. These findings may provide evidence for gene variants in susceptibility to MPNs. Indeed, common variants in DNA repair genes may hamper the capacity to repair DNA, thus increasing cancer susceptibility.Spandidos PublicationsRepositório ComumAzevedo, Ana P.Silva, Susana N.Lima, João P. deReichert, AliceLima, FernandoJúnior, EsmeraldinaRueff, José2017-11-15T12:18:37Z2017-06-01T00:00:00Z2017-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.26/19326engAzevedo, A. P., Silva, S. N., De Lima, J. P., Reichert, A., Lima, F., Júnior, E., & Rueff, J. (2017). DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms. Oncology Letters, 13(6), 4641–4650. http://doi.org/10.3892/ol.2017.60651792-107410.3892/ol.2017.6065info: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:RCAAP2022-10-06T14:52:58Zoai:comum.rcaap.pt:10400.26/19326Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:08:57.368926Repositório 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 DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
title DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
spellingShingle DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
Azevedo, Ana P.
Philadelphia-negative myeloproliferative neoplasms
Genetic susceptibility
Base excision repair genes polymorphisms
DNA repair
title_short DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
title_full DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
title_fullStr DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
title_full_unstemmed DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
title_sort DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
author Azevedo, Ana P.
author_facet Azevedo, Ana P.
Silva, Susana N.
Lima, João P. de
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
author_role author
author2 Silva, Susana N.
Lima, João P. de
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Comum
dc.contributor.author.fl_str_mv Azevedo, Ana P.
Silva, Susana N.
Lima, João P. de
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
dc.subject.por.fl_str_mv Philadelphia-negative myeloproliferative neoplasms
Genetic susceptibility
Base excision repair genes polymorphisms
DNA repair
topic Philadelphia-negative myeloproliferative neoplasms
Genetic susceptibility
Base excision repair genes polymorphisms
DNA repair
description Sob uma licença CC-BY-NC-ND - http://creativecommons.org/licenses/by-nc-nd/4.0/
publishDate 2017
dc.date.none.fl_str_mv 2017-11-15T12:18:37Z
2017-06-01T00:00:00Z
2017-06-01T00:00:00Z
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/10400.26/19326
url http://hdl.handle.net/10400.26/19326
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Azevedo, A. P., Silva, S. N., De Lima, J. P., Reichert, A., Lima, F., Júnior, E., & Rueff, J. (2017). DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms. Oncology Letters, 13(6), 4641–4650. http://doi.org/10.3892/ol.2017.6065
1792-1074
10.3892/ol.2017.6065
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Spandidos Publications
publisher.none.fl_str_mv Spandidos Publications
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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
repository.mail.fl_str_mv
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