Application of ERCC2 gene polymorphism detection in molecular pathological diagnosis of breast cancer / 临床与实验病理学杂志

ABSTRACT

Purpose To evaluate the application value of ERCC2 gene polymorphism ( rs3916840 C/T, rs1799793 G/A and rs238416 G/A) detection in molecular pathological diagnosis of breast cancer. Methods The polymorphisms of ERCC2 ( rs3916840, rs1799793 and rs238416) were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 101 patients with breast cancer and in 101 cancer-free controls. Results Analysis of the data showed a 0. 287-fold increased risk of breast cancer due to the deletion of genotype GA at rs238416 (P0. 05). Furthermore, Heterozygous genotype of rs3916840 was significantly associated with tumor size (P=0. 049), heterozygous genotype of rs1799793 was significantly associated with PR sta-tus and triple negative breast cancer (P=0. 037). Remarkably, the genotype frequency of GA in p53-positive patients was lower than that in p53-negiative patients (P=0. 026). Conclusions These results indicate that the polymorphism of rs238416 of ERCC2 is sig-nificantly associated with breast cancer risk. Tumor size, PR status, triple negative breast cancer, and p53 protein expression are asso-ciated with polymorphisms of ERCC2 (rs3916840, rs1799793 and rs238416) respectively. ERCC2 gene polymorphism detection is useful for the early diagnosis and prognosis evaluation of breast cancer.