Abstract: Objective To study the relationship between DNA damage repair gene xeroderma pigmentosum group C（XPC） rs2228000 polymorphisms and breast cancer risk. Methods Totally，562 breast cancer patients and 572 healthy subjects were enrolled. The general data of all the subjects and the clinicopathologic data of breast cancer patients were collected. Polymerase chain reaction（PCR）-restriction fragment length polymorphism（RFLP） was used to determine XPC. Using Logistic regression analysis，the correlation between XPC rs2228000 polymorphisms and breast cancer was evaluated. Results The distribution frequencies of XPC rs2228000 CC genotype（wild type），CT genotype（heterozygous type） and TT genotype（homozygous type） in breast cancer group were 33.2%，50.9% and 15.9%，respectively. Those in control group were 43.2%，48.4% and 8.4%，respectively. There was statistical significance in the frequency distribution of each genotype between the 2 groups（χ²=14.59，P<0.01）. The frequencies of allele C and T had statistical significance between the 2 groups（χ²=10.5，P<0.01）. Individuals with allele T had a 1.52 times greater risk than those with allele C [odds ratio（OR）=1.52，95% confidence interval（CI）1.37-1.94]. The XPC rs2228000 genotype distribution in breast cancer patients with estrogen receptor（ER）positivity and invasive ductal carcinoma had statistical significance compared with those with ER negative and other pathological types （P<0.05）. There was no statistical significance in XPC rs2228000 genotype distribution among breast cancer patients with different ages，menopausal status，progesterone receptor （PR） expression and BRCA1 gene expression（P>0.05）. Conclusions XPC rs2228000 polymorphisms are related to breast cancer.

Key words: Xeroderma pigmentosum group C, Gene polymorphism, Breast cancer