Heterozygote Germline Mutations in Homologous Recombination Core Genes Can Predict for Pathologic Complete Response in Early Triple Negative Breast Cancer

C Fontaine, S De Brakeleer, E Teugels, V Renard, H Van den Bulck, P Vuylsteke, P. Glorieux, C Dopchie, S Joris, L Decoster, A Awada, K Punie, H Wildiers, J De Grève
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Abstract

Background: BSMO 2014-01 is a published prospective phase 2 study investigating neoadjuvant weekly paclitaxel and carboplatin, followed by epirubicin and cyclophosphamide in 63 patients with triple-negative breast cancer. Pathological complete response (pCR) was 54%. A secondary endpoint was to correlate pCR rate to the presence of germline pathogenic variants in DNA damage response (DDR) genes and in core genes involved in Homologous Recombination (HR).
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同源重组核心基因杂合子种系突变可预测早期三阴性乳腺癌的病理完全缓解
背景:BSMO 2014-01是一项已发表的前瞻性2期研究,研究了63例三阴性乳腺癌患者的每周新辅助紫杉醇和卡铂,随后是表柔比星和环磷酰胺。病理完全缓解(pCR)为54%。次要终点是将pCR率与DNA损伤反应(DDR)基因和参与同源重组(HR)的核心基因中种系致病变异的存在相关联。
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