CC BY 4.0 · Brazilian Journal of Oncology 2021; 17: e-20200048
DOI: 10.5935/2526-8732.20200048
Original Article
Clinical Oncology

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

Polimorfismos em genes de biotransformação e reparo de DNA, e sobrevivência em carcinoma de células escamosas de cabeça e pescoço

Osmar Amorim Novais
1   Universidade Estadual do Sudoeste da Bahia, Departamento de Ciências Biológicas - Jequié - Bahia - Brazil
,
Débora Diniz Bezerra
1   Universidade Estadual do Sudoeste da Bahia, Departamento de Ciências Biológicas - Jequié - Bahia - Brazil
,
Ana Angélica Leal Barbosa
1   Universidade Estadual do Sudoeste da Bahia, Departamento de Ciências Biológicas - Jequié - Bahia - Brazil
,
Cintia Rodrigues Marques
2   Universidade Federal da Bahia, Instituto Multidisciplinar em Saúde, campus Anísio Teixeira - Vitória da Conquista - Bahia - Brazil
,
Marcílio Ferreira Filho
3   Universidade Estadual de Santa Cruz, Departamento de Ciências da Saúde - Ilhéus - Bahia - Brazil
,
Fabrício Rios-Santos
4   Universidade Federal do Mato Grosso, Laboratório de Fisiologia, Faculdade de Medicina - Cuiabá - Mato Grosso - Brazil
,
Thiago Magalhães da-Silva
1   Universidade Estadual do Sudoeste da Bahia, Departamento de Ciências Biológicas - Jequié - Bahia - Brazil
› Author Affiliations
Financial support: none to declare.

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.



Publication History

Received: 22 February 2020

Accepted: 10 September 2020

Article published online:
18 January 2021

© 2022. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Bibliographical Record
Osmar Amorim Novais, Débora Diniz Bezerra, Ana Angélica Leal Barbosa, Cintia Rodrigues Marques, Marcílio Ferreira, Fabrício Rios-Santos, Thiago Magalhães da-Silva. Polymorphisms in biotransformation and DNA repair genes, and survival on head and neck squamous cell carcinoma. Brazilian Journal of Oncology 2021; 17: e-20200048.
DOI: 10.5935/2526-8732.20200048
 
  • REFERENCES

  • Braakhuis BJM, Brakenhoff RH, Leemans CR.. Treatment choice for locally advanced head and neck cancers on the basis of risk factors: biological risk factors. Ann Oncol 2012; Sep; 23 (Suppl 10): x173-7
  • Farnebo L, Stjernström A, Fredrikson M, Ansell A, Garvin S, Thunell LK. DNA repair genes XPC, XPD, XRCC1, and XRCC3 are associated with risk and survival of squamous cell carcinoma of the head and neck. DNA Repair (Amst) 2015; Jul; 31: 64-72
  • Weiss JM, Goode EL, Ladiges WC, Ulrich CM.. Polymorphic variation in HOGG1 and risk of cancer: a review of the functional and epidemiologic literature. Mol Carcinog 2005; Mar; 42 (03) 127-141
  • Hopkins J, Cescon DW, Tse D, Bradbury P, Xu W, Ma C. et al Genetic polymorphisms and head and neck cancer outcomes: a review. Cancer Epidemiol Biomarkers Prev 2008; 17 (03) 490-499
  • Khlifi R, Chakroun A, Hamza-Chaffai A, Rebai A.. Association of CYP1A1 and CYP2D6 gene polymorphisms with head and neck cancer in Tunisian patients. Mol Biol Rep 2014; 41 (04) 2591-2600
  • Choudhury JH, Singh SA, Kundu S, Choudhury B, Talukdar FR, Srivasta S. et al Tobacco carcinogen-metabolizing genes CYP1A1, GSTM1, and GSTT1 polymorphisms and their interaction with tobacco exposure influence the risk of head and neck cancer in Northeast Indian population. Tumour Biol 2015; Aug; 36 (08) 5773-5783
  • Li F, Wang J, Chen M.. Single nucleotide polymorphisms in DNA repair genes and the risk of laryngeal cancer: a meta-analysis. Biomed Pharmacother 2016; Mar; 78: 92-100
  • Feki-Tounsi M, Khlifi R, Louati I, Fourati M, Mhiri MN. , Hamza-Chaffai, et al. Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population. Environ Sci Pollut Res Int 2017; Oct; 24 (22) 22476-84
  • Ekhart C, Rodenhuis S, Smits PHM, Beijnen JH, Huitema ADR.. An overview of the relations between polymorphisms in drug metabolising enzymes and drug transporters and survival after cancer drug treatment. Cancer Treat Rev 2009; Feb; 35 (01) 18-31
  • Osian G, Procopciuc L, Vlad L, Iancu C, Cristea PG, Mocan T. et al NAT2 polymorphisms and sporadic colorectal cancer survival. J Gastrointestin Liver Dis 2010; Nov; 19 (04) 361-368
  • Ang MK, Patel MR, Yin XY, Sundaram S, Fritchie K, Zhao N. et al High XRCC1 protein expression is associated with poorer survival in patients with head and neck squamous cell carcinoma. Clin Cancer Res 2011; Oct; 17 (20) 6542-6552
  • Su Y, Zhang H, Xu F, Kong J, Yu H, Qian B. DNA. repair gene polymorphisms in relation to nonsmall cell lung cancer survival. Cell Physiol Biochem 2015; 36: 1419-1429
  • Pasqualetti F, Gonnelli A, Cantarella M, Delishaj D, Molinari A, Ortenzi V. et al Association of glutathione S-transferase P-1 (GSTP-1) rs1695 polymorphism with overall survival in glioblastoma patients treated with combined radio-chemotherapy. Invest New Drugs 2017; Apr; 36 (02) 340-345
  • Silva TM, Marques CR, Marques Filho MF, Marques AB, Di Pietro G, Rios-Santos F.. Association of the GSTT1 polymorphism in upper aerodigestive tract cancer with tobacco smoking. Genet Mol Res 2014; Jan; 13: 528-537
  • Marques CR, Silva TM, Albuquerque DM, Chaves MS, Marques Filho MF, Oliveira JS. et al NAT2, XRCC1 and HOGG1 polymorphisms, cigarette smoking, alcohol consumption and risk of upper aerodigestive tract cancer. Anticancer Res 2014; Jun; 34 (06) 3217-3224
  • Harries LW, Stubbins MJ, Forman D, Howard GC, Wolf CR.. Identification of genetic polymorphisms at the glutathione S-transferase Pi locus and association with susceptibility to bladder, testicular and prostate cancer. Carcinogenesis 1997; Apr; 18 (04) 641-644
  • Silva MS, Carvalho M, Santos TQ, Bucco BM.. Estudo do polimorfismo dos genes GSTT1 e GSTM1 em pacientes de gliomas malignos. Rev Ciênc Méd Biol 2010; 9: 200-203
  • Troy JD, Weissfeld JL, Diergaarde B, Youk AO, Buch SC, Romkes M. et al Polymorphisms in NAT2 and GSTP1 are associated with survival in oral and oropharyngeal cancer. Cancer Epidemiol 2013; Aug; 37 (04) 505-511
  • Zhai XH, Huang J, Wu FX, Zhu DY, Wang AC.. Impact of XRCC1, GSTP1, and GSTM1 polymorphisms on the survival of ovarian carcinoma patients treated with chemotherapy. Oncol Res Treat 2016; 39 (7-8) 440-446
  • Jain V, Ratre YK, Amle D, Mishra PK, Patra PK.. Polymorphism of CYP1A1 gene variants rs4646903 and rs1048943 relation to the incidence of cervical cancer in Chhattisgarh. Environ Toxicol Pharmacol 2017; Jun; 52: 188-192
  • Zafereo ME, Sturgis EM, Aleem S, Chaung K, Wei Q, Li G.. Glutathione S-transferase polymorphisms and risk of second primary malignancy after index squamous cell carcinoma of the head and neck. Cancer Prev Res (Phila) 2009; May; 2 (05) 432-439
  • Geisler SA, Olshan AF, Cai J, Weissler M, Smith J, Bell D.. Glutathione S-transferase polymorphisms and survival from head and neck cancer. Head Neck 2005; Jan; 27 (03) 232-242
  • Olivieri EHR, Silva SD, Mendonca FF, Urata YN, Vidal DO, Faria MA. et al CYP1A2*1C, CYP2E1*5B, and GSTM1 polymorphisms are predictors of risk and poor outcome in head and neck squamous cell carcinoma patients. Oral Oncol 2009; May; 45 (09) e73-9
  • Singh A, Singh N, Behera D, Sharma S.. Polymorphism in XRCC1 gene modulates survival and clinical outcomes of advanced North Indian lung cancer patients treated with platinumbased doublet chemotherapy. Med Oncol 2017; Apr; 34 (04) 64
  • Costa EFD, Santos ES, Liutti VT, Leal F, Santos VCA, Rinck-Junior JA. et al Association between polymorphisms in genes related to DNA baseexcision repair with risk and prognosis of oropharyngeal squamous cell carcinoma. J Cancer Res Clin Oncol 2016; Sep; 142 (09) 1917-1926