The aim of this study was to identify the frequency and spectrum of germline BRCA1/2 pathogenic alterations in a cohort of patients with breast carcinoma. In this study, a total of 603 breast cancer subjects from Turkey were screened for BRCA1/BRCA2 mutations using HDA and Sanger sequencing. In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer. Analysis of overall survival for BRCA1/BRCA2 mutation carriers showed a trend for poor overall survival only in BRCA1 carriers, although this was not statistically significant in BRCA1 and BRCA2 mutation carriers. The c.5266dupC mutation is one of the most frequently reported mutations in BRCA1 and was identified in five breast cancer patients in our study. The most common BRCA2 gene mutations in the present study were c.8940delA and c.9097dupA, which were found in seven patients. We found mostly BRCA1 and BRCA2 mutation carriers in those patients who showed hormone-positive features. In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.

这项研究的目的是确定乳腺癌患者队列中种系BRCA1 / 2致病性改变的频率和频谱。在这项研究中，共计603名来自土耳其的乳腺癌受试者使用HDA和Sanger测序筛选了BRCA1 / BRCA2突变。在本研究中，在30例患者中检测到21种BRCA1和BRCA2致病变异，并且BRCA1 / 2突变与乳腺癌/卵巢癌家族史显着相关。对BRCA1 / BRCA2突变携带者的总体存活率的分析表明，仅在BRCA1携带者中总体存活率较差的趋势，尽管这在统计学上没有统计学意义。BRCA1和BRCA2突变携带者。该c.5266dupC突变是报道最频繁的突变中的一BRCA1并在5名乳腺癌患者在我们的研究中被确认。在本研究中，最常见的BRCA2基因突变为c.8940delA和c.9097dupA，在7例患者中发现。在那些显示荷尔蒙阳性特征的患者中，我们主要发现了BRCA1和BRCA2突变携带者。总之，我们的数据显示了土耳其BRCA1和BRCA2突变谱的分布差异。