Application of ERCC2 gene polymorphism detection in molecular pathological diagnosis of breast cancer
10.13315/j.cnki.cjcep.2015.03.009
- VernacularTitle:检测ERCC2基因多态性在乳腺癌分子病理诊断中的应用
- Author:
Tao WANG
;
Yongdong ZHANG
;
Huan GUO
;
Haining LI
;
Yonghui LI
;
Hongyun GUO
;
Haixiang SU
- Publication Type:Journal Article
- Keywords:
breast neoplasm;
triple negative breast cancer;
SNPs;
ERCC2;
p53
- From:
Chinese Journal of Clinical and Experimental Pathology
2015;(3):277-281
- CountryChina
- Language:Chinese
-
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 (P<0. 001, 95%CI: 0. 153 ~0. 537). However, polymorphisms of rs3916840 and rs1799793 were not associated with breast cancer risk (P>0. 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.
