Immunology and Genetics Laboratory, University of Medicine and Pharmacy GrTPopa, Bd Independentei, nr 1, 700111 Iasi, Romania.
Fam Cancer. 2010 Dec;9(4):519-23. doi: 10.1007/s10689-010-9361-6.
Breast cancer is the most common cancer in women worldwide, including Romania, where its incidence has increased significantly during the last decade. Ovarian cancer is the fourth leading cause of mortality by cancer in women. BRCA1 and BRCA2 are major cancer predisposition genes, responsible for a large percentage of hereditary breast and ovarian cancer (HBOC) families. We investigated 17 patients from unrelated HBOC families in north-eastern Romania, screening for mutations in BRCA1 and BRCA2 by mutation-specific PCR and by dideoxy sequencing. We identified four BRCA1 and two BRCA2 mutations in the 17 families. The overall mutation frequency was 41% (7/17; 5 BRCA1 and 2 BRCA2). Two mutations (BRCA1 c.2241dupC and BRCA2 c.8680C>T) were novel and not listed in the BIC database. Two recurrent BRCA1 mutations (c.5266dupC and c.181T>G), previously described among Ashkenazi Jewish and Eastern European populations, were also found. Two unclassified variants (UV) were found, one of which was novel (BRCA2 c.4589A>G). Medical follow-up for mutation carriers was implemented. Our study is the first molecular investigation of the role of the BRCA genes in breast and ovarian cancer in Romania.
乳腺癌是全球范围内女性最常见的癌症，罗马尼亚也不例外，在过去十年中，其发病率显著上升。卵巢癌是女性癌症死亡的第四大主要原因。BRCA1 和 BRCA2 是主要的癌症易感性基因，负责遗传性乳腺癌和卵巢癌（HBOC）家族的很大一部分。我们对罗马尼亚东北部的 17 个无关 HBOC 家族的 17 名患者进行了研究，通过突变特异性 PCR 和双脱氧测序筛查 BRCA1 和 BRCA2 的突变。我们在 17 个家庭中发现了 4 个 BRCA1 和 2 个 BRCA2 突变。总体突变频率为 41%（7/17；5 个 BRCA1 和 2 个 BRCA2）。两个突变（BRCA1 c.2241dupC 和 BRCA2 c.8680C>T）是新的，未列入 BIC 数据库。还发现了两个先前在阿什肯纳兹犹太人和东欧人群中描述的常见 BRCA1 突变（c.5266dupC 和 c.181T>G）。发现了两个未分类的变异（UV），其中一个是新的（BRCA2 c.4589A>G）。对突变携带者进行了医疗随访。我们的研究是罗马尼亚首次对 BRCA 基因在乳腺癌和卵巢癌中的作用进行的分子研究。
