Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis

Autor(es)

Rinck-Junior, Jose Augusto ^[1] ; Torricelli, Caroline ^[2] ; Boas Gomez, Gabriela Vilas ^[2] ; Oliveira, Cristiane ^[2] ; Moraes, Aparecida Machado ^[1] ; Lourenco, Gustavo Jacob ^[2] ; Passos Lima, Carmen Silvia ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Dept Internal Med, Fac Med Sci, Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Lab Canc Genet, Fac Med Sci, Campinas, SP - Brazil

• Tipo de documento: Carta
• Fonte: EXPERIMENTAL DERMATOLOGY; v. 28, n. 5, p. 631-635, MAY 2019.
• Citações Web of Science: 0

Resumo

We aimed to evaluate whether variants in repair (XPD Asp312Asn, XPD Lys751Gln) and detoxification (GSTM1, GSTT1) genes alter risk, clinicopathological aspects and survival of cutaneous melanoma (CM). Genotyping was performed in 229 CM patients and 258 controls. Individuals with XPD 312Asp/Asn or Asn/Asn plus GSTT1 null genotype were under 2.00 (95% CI: 1.06-3.79), and XPD 312Asn/Gln haplotype was under 1.44-fold (95% CI: 0.99-2.08) increased risks to CM than others. Individuals with GSTM1 plus GSTT1 null genotype had 9.61-fold (95% CI: 2.28-40.38) increased risk of metastatic CM. At 60 months of follow-up, patients with XPD 751Gln/Gln plus GSTT1 null and GSTM1 null plus GSTT1 null genotype presented 7.36 and 3.05 more chances of evolving to death in multivariate Cox analysis, respectively. In conclusion, our data indicate, for the first time, that specific variant combinations of XPD, GSTM1 and GSTT1 may increase susceptibility to CM and influence patients' clinicopathological features and survival. (AU)

• Processo FAPESP: 09/12602-0 - Influência dos polimorfismos TP53 arg72pro, Mdm2 t309g, BCL2 C938A e BAX G248A, relacionados com apoptose celular,na susceptibilidade ao melanoma maligno
• Beneficiário: Cristiane de Oliveira
• Modalidade de apoio: Bolsas no Brasil - Mestrado