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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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]
Total Authors: 7
Affiliation:
[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
Total Affiliations: 2
Document type: Letter
Source: EXPERIMENTAL DERMATOLOGY; v. 28, n. 5, p. 631-635, MAY 2019.
Web of Science Citations: 0
Abstract

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)

FAPESP's process: 09/12602-0 - Influence of the polymorphisms TP53 arg72pro, MDM2 t309g, Bcl2 c938a e Bax g248a, related with celular apoptosis, in the susceptibility of malignant melanoma
Grantee:Cristiane de Oliveira
Support Opportunities: Scholarships in Brazil - Master