Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer

作者：Liu Yin; Xu Ye; Ouyang Tao; Li Jinfeng; Wang Tianfeng; Fan Zhaoqing; Fan Tie; Lin Benyao; Xie Yuntao^*

来源：BMC Cancer, 2015, 15(1): 194.

DOI：10.1186/s12885-015-1203-3

Background: Our previous study suggested that the recurrent CHEK2 H371Y mutation is a novel pathogenic mutation that confers an increased risk of breast cancer. The purpose of this study was to investigate whether breast cancer patients with CHEK2 H371Y mutation were more likely to respond to neoadjuvant chemotherapy. Methods: We screened a cohort of 2334 Chinese women with operable primary breast cancer who received a neoadjuvant chemotherapy regimen for CHEK2 H371Y germline mutations. Pathologic complete response ( pCR) was defined as the absence of tumor cells in the breast after the completion of neoadjuvant chemotherapy. Results: Thirty- nine patients ( 1.7%) with CHEK2 H371Y germline mutation were identified in this cohort of 2334 patients. CHEK2 H371Y mutation carriers had a significantly higher pCR rate than non- carriers ( 33.3% versus 19.5%, P = 0.031) in the entire study population, and CHEK2 H371Y mutation- positive status remained an independent favorable predictor of pCR in a multivariate analysis ( odds ratio [ OR] = 3.01; 95% confidence interval [ CI]: 1.34- 6.78, P = 0.008). CHEK2 H371Y carriers had a slightly worse distant recurrence- free survival than non- carriers ( adjusted hazard ratio [ HR] = 1.24, 95% CI: 0.59- 2.63). Conclusions: CHEK2 H371Y mutation carriers are more likely to respond to neoadjuvant chemotherapy than are non- carriers.

• 出版日期2015-3-28
• 单位北京市肿瘤防治研究所; 北京大学