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

Ana P Azevedo, Susana N Silva, João P de Lima, Alice Reichert, Fernando Lima, Esmeraldina Júnior, José Rueff

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Abstract

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.
Original languageEnglish
Pages (from-to)4641-4650
Number of pages10
JournalOncology Letters
DOIs
Publication statusPublished - Jun 2017

Keywords

  • Philadelphia‑negative myeloproliferative neoplasms
  • genetic susceptibility
  • base excision repair genes polymorphisms
  • DNA repair

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