Association between XRCC1 polymorphismus and head and neck cancer, and thyroid cancer

A Tibold MD^a, MD Kiss PhD^a, MD Ember PhD DSc^a, A Csejtey MD^b, Z Faluhelyi MD^c

^aDept. of Public Health, Faculty of Medicine, Pécs University of Sciences, Pécs, Hungary, ^bJósa András Hospital Nyíregyháza, Hungary, ^cRegional Hospital of Baranya Pécs, Hungary

AIM: The XRCC1 DNA repair gene plays a role in DNA strand break and base excision repair. Inter- individual differences in DNA repair has been described using different phenotypic and genotypic assays. Two XRCC1 polymorphysms of the XRCC1 gene are supposed to have an association with squamos cell carcinoma of the head and neck. However very limited data is available on the association between XRCC1 polymorphysmus and thyroid cancer. In our recent study we aimed to investigate the frequency of exon 6, 194 Arg/Arg and exon 10, 399 Gln/Gln genotype in patients suffering in these two malignancies, and compared it to age and sex matched controls. METHODS: A multiplex PCR/RFLP method was used to determine XRCC1 Arg 194 Trp and Arg 399 Gln genotypes. The codon 194 primers were: 26106F gcc ccg tcc cag gta and 26577R agc ccc aag acc ctttca ct which amplified a 491- bp fragment. The codon 399 primers were: 27776F ttg tgc ttt ctc tgt gtc ca and 28371R tcc tcc agc ctt ttc tga ta which amplified a 615- bp fragment. DNA isolated from peripheral white blood cells were PCR- ed, the amplified fragments were digested with Msp I, and analzyed in 2% agarose gels. RESULTS:There was a mild, statistically not significant increase in the risk for head and neck tumors among carriers of the Arg 194 Trp polymorphism (OR: 1.27, CI: 0.78-1.65). We did not find any other association between the stuied tumors and polymorphisms. CONCLUIONS: The Arg 194 Trp polymorphisms might play a role in the genesis of head and neck tumors, but future studies are needed to further explore the functional consequences of XRCC1 polymorphysms.

Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Nice, France; February 7 - 10, 2004; in poster session 892 (Susceptibility genes).