Cecener Gulsah, Sabour Takanlou Leila, Sabour Takanlou Maryam, Egeli Unal, Eskiler Gamze Guney, Aksoy Secil, Unal Ufuk, Tezcan Havva, Eryilmaz Isil Ezgi, Gokgoz Mustafa Sehsuvar, Tunca Berrin, Cubukcu Erdem, Evrensel Turkkan, Cetintas Sibel, Tasdelen Ismet
Deparment of Medical Biology and Genetics, Faculty of Medicine, Bursa Uludag University, Bursa 16059, Turkey.
Deparment of Medical Biology and Genetics, Faculty of Medicine, Bursa Uludag University, Bursa 16059, Turkey.
Cancer Genet. 2020 Jan;240:23-32. doi: 10.1016/j.cancergen.2019.10.004. Epub 2019 Oct 16.
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.
本研究的目的是确定一组乳腺癌患者中胚系BRCA1/2致病改变的频率和谱系。在本研究中，使用HDA和桑格测序对来自土耳其的603名乳腺癌受试者进行了BRCA1/BRCA2突变筛查。在本研究中，在30名患者中检测到21种BRCA1和BRCA2致病变体，并且BRCA1/2突变与乳腺癌/卵巢癌家族史显著相关。对BRCA1/BRCA2突变携带者的总生存期分析显示，仅BRCA1携带者的总生存期有较差的趋势，尽管这在BRCA1和BRCA2突变携带者中无统计学意义。c.5266dupC突变是BRCA1中最常报道的突变之一，在我们的研究中在5名乳腺癌患者中被鉴定出来。本研究中最常见的BRCA2基因突变是c.8940delA和c.9097dupA，在7名患者中被发现。我们在那些具有激素阳性特征的患者中发现了大多数BRCA1和BRCA2突变携带者。总之，我们的数据显示了土耳其BRCA1和BRCA2突变谱系分布存在差异。
