Valor prognóstico de polimorfismos nos genes de reparo do DNA XRCC3 E RAD51 em pacientes com carcinoma epidermóide oral e de orofaringe
Faults in the genes responsible for repairs to the DNA can influence the onset of cancer or affect the response to treatment. This research evaluated the frequency of three single nucleotide polymorphisms (SNPs) in two repair genes DNA RAD51 172g> T (rs1801321), RAD51 135G> C (rs1801320) an...
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| Formato: | doctoralThesis |
| Idioma: | por |
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Universidade Federal do Rio Grande do Norte
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| Endereço do item: | https://repositorio.ufrn.br/jspui/handle/123456789/21272 |
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| Resumo: | Faults in the genes responsible for repairs to the DNA can influence the onset of
cancer or affect the response to treatment. This research evaluated the frequency of
three single nucleotide polymorphisms (SNPs) in two repair genes DNA RAD51
172g> T (rs1801321), RAD51 135G> C (rs1801320) and XRCC3 T241M (rs861539)
in individuals without cancer (n = 130) and patients with oral squamous cell
carcinoma (OSC) and carcinoma oropharyngeal squamous (ORSC) (n = 126) and
investigated possible relationships of these findings with clinical and pathological
data and clinical outcomes: tumor response to radiotherapy and chemotherapy,
disease-free survival, and overall survival. It was found that the allele and genotype
frequencies were in equilibrium Hard-Weinberg equilibrium. The presence of at least
one polymorphic allele in XRCC3 (rs861539) gene is associated with histological
grade (WHO) higher (p = 0.007). We observed a higher recurrence rate trend (p =
0.08) and more advanced stage (p = 0.08) in the group that had at least one
polymorphic allele of RAD51 gene (rs1801321). The presence of the analyzed SNPs
not proved to be a risk factor for the development of CEO or CEOR; however, when
combined with smoking or drinking, increased the risk of developing cancer from
three to one hundred and fifty times. The tumor response to radiotherapy and
chemotherapy was similar in patients with and without SNPs. No polymorphism
showed statistical significance in relation to recurrence-free survival or overall
survival. We conclude that the presence of at least one polymorphic allele of the
SNPs rs861539 in XRCC3 gene, rs1801320 and rs1801321 in the RAD51 gene
increase the risk of development of OSC and ORSC, when associated with the habit
of drinking or smoking. Polymorphisms studied in XRCC3 and RAD51 genes are not
associated with response to radiation therapy, relapse-free survival or overall
survival. |
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