Breast cancer (BC) is the most common female cancers in many countries including Syria. Familial breast cancer or previous family cancer history are considered significant risk factors. Therefore, detecting the prevalence and founder mutations in the population facilitates genetic counselling, risk assessment and the development of a cost-effective screening strategy. In this study, we investigated the three germ-line founder mutations in the BRCA1/2 genes: [NM_007294.4 (BRCA1):c.68_69del (p.Glu23fs), NM_007294.4 (BRCA1):c.5266dup (p.Gln1756fs) and NM_000059.4 (BRCA2):c.5946del (p.Ser1982fs)], to examine their incidence and frequency in early-onset breast cancer cases and determine if they are connected to familial breast cancer. One hundred early diagnosed BC females (≤ 40 years old) with no other type of cancer were recruited. Genomic DNA was isolated from peripheral blood samples, and mutations were investigated using the Amplification-Created Restriction Site (ACRS) method. The family history of cancer was observed in 61% of the cases, of which 35% were breast cancer; however, none of the screened mutations were detected among BC patients. The investigated germ-line mutations were not common among Syrian female patients with early-onset BC and were not associated with familial BC. Other mutations in the BRCA1/2 genes or other genes may have a contributing role. Future studies and the need to launch nationwide mutation screening tests for BRCA 1/BRCA2 in the Syrian population are recommended.

中文翻译：

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BRCA 突变：筛查早发叙利亚乳腺癌患者的种系创始人突变

乳腺癌（BC）是包括叙利亚在内的许多国家最常见的女性癌症。家族性乳腺癌或既往家族癌症史被认为是重要的危险因素。因此，检测人群中的患病率和始祖突变有助于遗传咨询、风险评估和制定具有成本效益的筛查策略。在这项研究中，我们研究了 BRCA1/2 基因中的三个种系创始人突变：[NM_007294.4 (BRCA1):c.68_69del (p.Glu23fs)、NM_007294.4 (BRCA1):c.5266dup (p.11)。 Gln1756fs) 和 NM_000059.4 (BRCA2):c.5946del (p.Ser1982fs)]，检查它们在早发性乳腺癌病例中的发病率和频率，并确定它们是否与家族性乳腺癌有关。招募了 100 名早期诊断的 BC 女性（≤ 40 岁），没有其他类型的癌症。从外周血样本中分离出基因组 DNA，并使用扩增创建的限制性位点 (ACRS) 方法研究突变。 61%的病例有癌症家族史，其中35%是乳腺癌；然而，在 BC 患者中没有检测到任何筛查突变。所研究的种系突变在患有早发性 BC 的叙利亚女性患者中并不常见，并且与家族性 BC 无关。 BRCA1/2 基因或其他基因的其他突变可能起到一定作用。建议未来开展研究，并需要在叙利亚人群中开展全国范围内的 BRCA 1/BRCA2 突变筛查测试。