BRCA2 gene mutations in Slovenian male breast cancer patients
BRCA2 gene mutations in Slovenian male breast cancer patients
复制标题
DOI：
10.1089/gte.2007.0071
复制
发表时间：
2008-06-01
期刊：
影响因子：
--
通讯作者：
Teugels, Erik
中科院分区：
文献类型：
--
作者：
Besic, Nikola;Cernivc, Barabara;Teugels, Erik
男性乳腺癌（MBC）是一种罕见疾病，在斯洛文尼亚乳腺癌患者中所占比例不到 1%。一些遗传性病例是由于 BRCA1 或 BRCA2 基因突变所致。目前尚无有关斯洛文尼亚 MBC 人群中 BRCA 基因突变频率的信息。本研究的目的是确定斯洛文尼亚 MBC 患者 BRCA 种系突变的特征。 1970 年至 2006 年间在卢布尔雅那肿瘤研究所诊断出乳腺癌的 41 名患者被提议参加这项研究。其中，27 名患者同意接受遗传咨询，25 名患者同意提供血样进行基因检测。对来自 MBC 患者的 BRCA1 和 BRCA2 基因进行了筛查，以检测斯洛文尼亚人群中四种高度复发的突变。当家庭中出现额外的乳腺癌病例或卵巢癌时，需要进行更广泛的分析。未发现 BRCA1 突变。在四名 MBC 患者中发现了 BRCA2 基因突变。其中三人携带斯洛文尼亚创始人突变IVS16-2A>G。所有四种突变均仅限于有乳腺癌家族史的患者。在一级或二级亲属中有乳腺癌家族史的MBC患者中，BRCA2基因突变频率为50%。携带BRCA2基因突变的患者的中位年龄为60岁，与没有突变的患者没有显着差异。 16% 的 MBC 患者被诊断出 BRCA2 突变。
Male breast cancer (MBC) is a rare disease, comprising less than 1% of breast cancer patients in Slovenia. Some inherited cases are due to the mutations of BRCA1 or BRCA2 genes. There is no information available about the frequency of BRCA gene mutations in Slovenian MBC population. The purpose of this study was to characterize BRCA germline mutations in Slovenian MBC patients. Forty-one patients who were diagnosed with breast cancer at the Institute of Oncology Ljubljana between 1970 and 2006 were proposed to take part in this study. Of them, 27 agreed to follow a genetic counseling session and 25 patients agreed to provide a blood sample for genetic testing. The BRCA1 and BRCA2 genes from the MBC patients were screened for four highly recurrent mutations in the Slovenian population. When an additional breast cancer case or an ovarian cancer was present in the family, a more extended analysis was performed. No BRCA1 mutations were found. A BRCA2 gene mutation was identified in four MBC patients. Three of them carried the Slovenian founder mutation IVS16-2A>G. All four mutations were confined to the patients with a family history of breast cancer. Among the MBC patients with a family history of breast cancer in the first-or second-degree relatives, the frequency of BRCA2 gene mutation was 50%. The median age of the patients with a BRCA2 gene mutation was 60 years, not significantly different from those without a mutation. The BRCA2 mutations were diagnosed in 16% of our MBC patients.