DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: the role of base excision repair genes polymorphisms
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
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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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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1799129958277185536 |