Polymorphisms in biotransformation and DNA repair genes, and survival on head and neck squamous cell carcinoma

ABSTRACT

Objective:This study analyzed the association between xenobiotic metabolism and DNA repair gene polymorphisms and overall survival (OS) and disease-free survival (DFS) in patients diagnosed with HNSCC in a Brazilian population. Methods: Retrospective study included 91 patients with a confirmed diagnosis of HNSCC. A total of 7 genes were analyzed: XRCC1, HOGG1, CYP1A1, GSTM1, GSTT1, GSTP1 and NAT2. Results: Regarding OS, the largest mean differences were observed comparing GSTT1 rs71748309 null and GSTT1 rs71748309 non-null genotypes (p=0.050). In the gene-gene interaction analysis, the higher difference to OS was observed to the combined genotypes of the GSTM1 rs4025935 and GSTT1 rs71748309 (p=0.286). Regarding DFS, the largest mean differences were observed comparing GSTT1 rs71748309 null and GSTT1 rs71748309 non-null genotypes (p=0.060) and to the combined genotypes of the GSTM1 rs4025935 and GSTT1 rs71748309 (p=0.313). Conclusion: None of the polymorphisms evaluated in xenobiotic metabolism or DNA repair genes were significantly associated with HNSCC survival in our population. Confirmation of these results in larger studies is required.

RESUMO

Objetivo:Este estudo analisou a associação entre o metabolismo xenobiótico e os polimorfismos do gene de reparo do DNA, e a sobrevivência geral (SG) e a sobrevivência livre de doença (SLD) em pacientes com diagnóstico de CECP em uma população brasileira. Métodos: Estudo retrospectivo que incluiu 91 pacientes com diagnóstico confirmado de CECP. Um total de 7 genes foram analisados: XRCC1, HOGG1, CYP1A1, GSTM1, GSTT1, GSTP1 e NAT2. Resultados: Em relação ao OS, as maiores diferenças médias foram observadas comparando os genótipos GSTT1 rs71748309 nulo e GSTT1 rs71748309 não nulo (p=0,050). Na análise da interação gene-gene, a maior diferença para OS foi observada para os genótipos combinados de GSTM1 rs4025935 e GSTT1 rs71748309 (p=0,286). Em relação ao DFS, as maiores diferenças médias foram observadas comparando os genótipos GSTT1 rs71748309 nulo e GSTT1 rs71748309 não nulo (p=0,060) e os genótipos combinados do GSTM1 rs4025935 e GSTT1 rs71748309 (p=0,313). Conclusão: Nenhum dos polimorfismos avaliados no metabolismo xenobiótico ou genes de reparo de DNA foram significativamente associados com a sobrevivência do CECP em nossa população. É necessária a confirmação desses resultados em estudos maiores.

Keywords:

Squamous cell carcinoma of head and neck - Survival - Polymorphism - Genetic - DNA - Gene.

Descritores:

Carcinoma espinocelular de cabeça e pescoço - Sobrevivência - Polimorfismo Genético - DNA - Gene.

Publication History

Received: 22 February 2020

Accepted: 10 September 2020

Article published online:
18 January 2021

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