Journal of Cancer Research and Clinical Oncology

, Volume 142, Issue 9, pp 1917–1926 | Cite as

Association between polymorphisms in genes related to DNA base-excision repair with risk and prognosis of oropharyngeal squamous cell carcinoma

  • Ericka Francislaine Dias Costa
  • Erika Stocco Santos
  • Vitor Teixeira Liutti
  • Frederico Leal
  • Vivian Castro Antunes Santos
  • José Augusto Rinck-Junior
  • Fernanda Viviane Mariano
  • Cláudia Malheiros Coutinho-Camillo
  • Albina Altemani
  • Carmen Silvia Passos Lima
  • Gustavo Jacob LourençoEmail author
Original Article – Cancer Research



We examined the influence of OGG1 c.977C>G (rs1052133), APEX1 c.444T>G (rs1130409), XRCC1 c.-77T>C (rs3213245), c.580C>T (rs1799782), c.839G>A (rs25489) and c.1196G>A (rs25487) single-nucleotide polymorphisms (SNPs), involved in base-excision repair (BER) pathway, on oropharyngeal squamous cell carcinoma (OPSCC) risk and prognosis.


Aiming to identify the genotypes, DNA from 200 consecutive OPSCC patients and 200 controls was analyzed by PCR-RFLP. The prognostic impact of genotypes of SNPs on progression-free survival (PFS) and overall survival of OPSCC patients was examined using the Kaplan–Meier estimates and Cox regression analyses.


XRCC1 c.580CT or TT genotypes (19.5 vs. 11.0 %, P = 0.04) and XRCC1 TTGG haplotype from c.-77T>C, c.580C>T, c.839G>A and c.1196G>A SNPs (17.5 vs. 10.0 %, P = 0.04) were more common in patients with OPSCC than in controls. Carriers of combined genotypes of c.580C>T and TTGG haplotype of XRCC1 gene were under 3.35- and 3.22-fold increased risk of OPSCC than others. For survival analysis, we selected only patients with tumor at stage IV. The median follow-up time was 24.5 months. At 24 months of follow-up, PFS was shorter in patients with OGG1 c.977CC genotype when compared with others genotypes (35.5 vs. 52.1 %, log-rank test, P = 0.03). After multivariate Cox analysis, patients with OGG1 c.977CC genotype had more chance to present tumor progression when compared with others (HR 1.68, P = 0.02).


Our data present, for the first time, evidence that inherited OGG1 c.977C>G; XRCC1 c.-77T>C, c.580C>T, c.839G>A and c.1196G>A abnormalities of DNA BER pathway are important determinants of OPSCC and predictors of patient outcomes.


Oropharyngeal squamous cell carcinoma Base-excision repair pathway Polymorphisms Risk Prognosis 


Financial support

São Paulo Research Foundation (FAPESP) (Grant #2012/18623-1) funded this study.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical standard

The study was approved according to the institutional review board guidelines (Number 446/2005) and according to the Declaration of Helsinki, where all subjects provided written informed consent.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Ericka Francislaine Dias Costa
    • 1
  • Erika Stocco Santos
    • 1
  • Vitor Teixeira Liutti
    • 1
  • Frederico Leal
    • 1
  • Vivian Castro Antunes Santos
    • 1
  • José Augusto Rinck-Junior
    • 1
  • Fernanda Viviane Mariano
    • 2
  • Cláudia Malheiros Coutinho-Camillo
    • 3
  • Albina Altemani
    • 2
  • Carmen Silvia Passos Lima
    • 1
  • Gustavo Jacob Lourenço
    • 1
    Email author
  1. 1.Laboratory of Cancer Genetics, Faculty of Medical SciencesUniversity of CampinasCampinasBrazil
  2. 2.Department of Pathology, Faculty of Medical SciencesUniversity of CampinasCampinasBrazil
  3. 3.Department of PathologyA. C. Camargo Cancer CenterSão PauloBrazil

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