EGAS00001000276-sc-20121031 - samples

Resistance towards chemotherapy is one of the main causes of treatment failure and death
among breast cancer patients.The main objective of this project is to
identify genetic mechanisms causing some breast cancer patients not to
respond to a particluar type of chemotherapy (epirubicin) while other
patients respond very well to the same treatment. In the project we
will perform genome / exome sequencing of a selection of breast cancer
patients (n=30). These patients are drawn from a cohort where all
patients have recieved treatment with epirubicin monotherapy before surgical removal of a
locally advanced breast tumour, and where all patients have been
subjected to objective evaluation of the response to the
therapy. Subsequent to sequencing, we will analyse the data and
compare with the clinical data for each patient (object response to
therapy). The main aim being to identify mutations that are associated
with resistance to epirubicin. Identification of mutations with strong
predictive value, may have a direct impact on cancer treatment since
it opens the possibility for genetic testing of a tumour, and desicion
on which drug is likely to work best, prior to treatment start.EGA dataset EGAD00001000264

化疗耐药是导致乳腺癌患者治疗失败与死亡的主要诱因之一。本项目的核心研究目标为解析部分乳腺癌患者对表柔比星（epirubicin）化疗无应答，而其余患者对该疗法应答良好的遗传机制。本研究将选取30例乳腺癌患者开展基因组/外显子组测序（n=30）。上述受试者均来自一个临床队列：所有入组患者均在局部进展期乳腺肿瘤手术切除前接受过表柔比星单药治疗，且均已完成治疗应答的客观评估。测序完成后，我们将对测序数据进行分析，并与每位患者的临床数据（治疗客观应答情况）进行比对，最终目的是筛选出与表柔比星耐药相关的突变。若能筛选出具有强预测价值的突变，将可直接应用于癌症诊疗——这为肿瘤基因检测以及治疗前筛选最优用药方案提供了可行途径。本数据集源自EGA数据库EGAD00001000264。