SNPS em vias de reparação genética e seu potencial impacto no tratamento do cancro oral
: revisão sistemática

  • Bruna Rodriguez Mirahy (Student)

Student thesis: Master's Thesis


This review was developed following the PRISMA guidelines using the following PICO question: “Do SNPs present in genetic repair pathways impact the clinical outcome of anticancer treatment in patients with oral cancer?” A search was performed in PubMed and Web of Science databases, using the following MeSH keywords (including synonyms and hierarchically included terms): (Polymorphism, Single Nucleotide) AND ((DNA repair) OR (DNA repair enzymes)) AND (( mouth neoplasms) OR (Squamous Cell Carcinoma of Head and Neck)) AND ((drug therapy) OR (antineoplastic agents) OR (radiotherapy) OR (chemoradiotherapy)).The literature search resulted in 142 studies and, after application of the selection criteria and removal of duplicates , 7 studies were included in this review. In the base excision repair (BER) pathway, 6 SNPs (rs1760944, rs3219489, rs1052133, rs1799782, rs25489 and rs25487) were identified in 4 genes (APEX1, MUTYH, OGG1, XRCC1), with 2 SNPs in the XRCC1 gene did not show a significant association (rs25487 and rs25489) the others are related to the outcome of the anticancer treatment in patients with oral cancer. The MLH1 gene was evaluated through two SNPs (rs1800734 and rs1540354). Only rs1800734 showed an association. with free survival disease and overall survival. Knowledge about these SNPs can help to better target the treatment strategy, individualizing it according to the expected response as a result of the patient's genetic profile.
Date of Award19 Jul 2022
Original languagePortuguese
Awarding Institution
  • Universidade Católica Portuguesa
SupervisorLuís Santos (Supervisor), Maria José Correia (Co-Supervisor) & Raquel Silva (Co-Supervisor)


  • Polymorphism
  • Single nucleotide
  • Radiotherapy
  • Chemoradiotherapy
  • Mouth neoplasms


  • Mestrado em Medicina Dentária

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