A33512C and Intronic Poly(AT) Insertion/Deletion (PAT-/+) Polymorphisms of the XPC Gene and Their Association With the Risk of Breast Cancer

Abstract

Background: Several lines of evidence suggest that A33512C and intronic poly(AT) insertion/deletion (PAT-/+) polymorphisms of the XPC gene is associated with various types of malignancy. This case-control study aimed to determine the possible association between A33512C and PAT-/+ polymorphisms of the XPC gene and breast cancer (BC).

Patients and methods: A total of 200 women diagnosed with BC as cases and 200 ethnically matched healthy controls were genotyped for A33512C and PAT-/+ polymorphisms of the XPC gene by PCR-restriction fragment length polymorphism and PCR methods, respectively. The possible association between XPC A33512C and PAT-/+ polymorphisms with the risk of BC were also analyzed.

Results: PAT-/+ polymorphism of the XPC gene was significantly associated with increased risk of BC (P < .05), whereas there was no association between XPC A33512C polymorphism and BC (P > .05). The frequency of the XPC PAT+ allele in BC patients was significantly higher than those in healthy controls (odds ratio, 0.561; 95% confidence interval, 0.403-0.779; P < .05). The combined genotypes AC/PAT+/+ and CC/PAT+/+ were significantly associated with increased risk of BC.

Conclusion: The prevalence of XPC PAT+ allele was significantly higher in patients with high-tumor-stage disease compared to healthy controls. Overall, the significantly higher frequency of the PAT+ allele in the BC group compared to the control group may suggest an etiologic link between the presence of the PAT+ allele and the risk of BC.

Keywords: Genetic variation; Indel; Lys939Gln; Nucleotide excision repair; SNP.