[Correlation between single nucleotide polymorphisms of rs4778137 located in OCA2 gene and clinical response of breast cancer patients receiving neoadjuvant chemotherapy].

Objective: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of rs4778137 located in OCA2 gene and clinical response of breast cancer patients receiving neoadjuvant chemotherapy. Methods: A total of 140 breast cancer patients receiving neoadjuvant chemotherapy were enrolled to detect DNA in blood sample by DNA extraction kit and the rs4778137 polymorphism by sequenom. The relationship between SNPs of rs4778137 and pathologic complete response (pCR) were analyzed. Results: The frequency of CC, GC and GG genetype of rs4778137 was 48.6%, 31.4% and 20.0%,respectively. Thirty cases (21.4%) achieved pCR with CC allele in 9 cases(13.2%),GC allele in 10 cases (22.7%) and GG allele in 11 cases (39.3%),respectively,with a statistically significant difference(P<0.05). When conducting stratified analysis in accordance with the estrogen receptor (ER) status,only in ER negative group pCR was significantly associated with SNPs of rs4778137 (P<0.05). SNPs of Rs4778137, targeted therapy,subtypes,tumor stage were independent predictors of pCR in multivariate logistic regression analysis (P<0.05),and SNPs of rs4778137 was an independent predictors of pCR in ER negative group (P<0.05), but not in ER positive group group (P>0.05). Conclusion: SNPs of rs4778137 was associated with pCR only in ER negative patients receiving neoadjuvant therapy, and breast cancer patients with the GG allele were more likely to achieve pCR.