The POLR2E rs3787016 polymorphism is strongly associated with the risk of female breast and cervical cancer.

The rs3787016 polymorphism, in polymerase II polypeptide E (POLR2E), was previously identified as being associated with the risk for prostate cancer, esophageal cancer, breast cancer, papillary thyroid carcinoma and liver cancer, suggesting that rs3787016 may server as a common genetic factor to affect individual susceptibility to cancer. To prove the hypothesis, we here performed a case-control study to explore the association between rs3787016 and cervical cancer risk, and to confirm the association between rs3787016 and breast cancer in a central Chinese population, which was followed by a meta-analysis to precisely estimate the association between rs3787016 and risk of female breast and cervical cancer. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Our results indicated that rs3787016 was associated with the risk of both breast cancer and cervical cancer, and stratified analysis indicated that the association remained particularly for ≤60 years old females who smoke and drink. Moreover, after grouping breast cancer and cervical cancer together, our meta-analysis demonstrated that rs3787016 was associated with overall cancer risk and breast cancer risk. Collectively, the POLR2E rs3787016 polymorphism may be a valuable biomarker for female breast and cervical cancer predisposition.

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