Department of Medical Oncology, Faculty of Medicine, Tekirdag Namik Kemal University, Tekirdag, Turkey; Department of Medical Oncology, Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey.
Department of Medical Biology, Faculty of Medicine, Tekirdag Namik Kemal University, Tekirdag, Turkey; Department of Medical Services and Techniques, Vocational School of Health Services, Adiyaman University, Adiyaman, Turkey.
Life Sci. 2020 Nov 15;261:118334. doi: 10.1016/j.lfs.2020.118334. Epub 2020 Aug 23.
Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established method of choice for the assessment of developing breast cancer. Accordingly, here we aimed to report novel BRCA1/2 variations and distribution of previously known mutations and their association with the clinical course of breast cancer disease. A total of 287 breast cancer patients were enrolled from January 2017 through December 2019. Of these patients, 50 of them were identified to be positive for BRCA1/2. Next Generation Sequencing analysis was performed for the screening of exonic and intronic variations of BRCA1/BRCA2 genes. Notably, novel variations of 4448 G > A (Ser1843Asn) in BRCA1, and 982dupA (Thr328AspfsTer) and 7588C > T (Gln2530Ter) in BRCA2 gene were identified. The most common variations in BRCA1 gene were 5152 + 66G > A, 442-34C > T and 5266dupC. In BRCA2 gene, the most common variations were 9097dupA, 67 + 1G > A and 1114A > C. Novel variations of BRCA1 and BRCA2 genes were identified in breast cancer and might be useful predisposing factors in breast cancer diagnosis.
两种主要的乳腺癌易感性基因 BRCA1 和 BRCA2 的突变已被确定为乳腺癌发生的最重要的易感因素。因此，BRCA1/2 检测是评估乳腺癌发展的一种成熟的选择方法。因此，我们旨在报告新的 BRCA1/2 变异以及先前已知突变的分布及其与乳腺癌疾病临床过程的关联。我们从 2017 年 1 月至 2019 年 12 月共招募了 287 名乳腺癌患者。其中 50 名患者被确定为 BRCA1/2 阳性。对 BRCA1/BRCA2 基因的外显子和内含子变异进行了下一代测序分析。值得注意的是，在 BRCA1 基因中发现了 4448 G>A (Ser1843Asn)、982dupA (Thr328AspfsTer) 和 7588C>T (Gln2530Ter)的新变异，在 BRCA2 基因中发现了 7588C>T (Gln2530Ter)的新变异。BRCA1 基因中最常见的变异是 5152 + 66G>A、442-34C>T 和 5266dupC。在 BRCA2 基因中，最常见的变异是 9097dupA、67 + 1G>A 和 1114A>C。BRCA1 和 BRCA2 基因的新变异在乳腺癌中被发现，可能是乳腺癌诊断的有用易感因素。
