A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
复制标题
DOI：
10.1186/1471-2350-12-134
复制
发表时间：
2011-10-11
影响因子：
--
通讯作者：
Lopez-Guerrero JA
中科院分区：
文献类型：
--
作者：
Garcia-Casado Z;Romero I;Fernandez-Serra A;Rubio L;Llopis F;Garcia A;Llombart P;Lopez-Guerrero JA
两种肿瘤抑制基因BRCA1和BRCA2的种系突变占遗传性乳腺癌和卵巢癌病例的很大比例。这些突变大多由缺失、插入、无义突变和剪接变异组成，然而，在这些基因中已经发现了越来越多的大基因组重排。我们通过直接测序和MLPA分析BRCA1和BRCA2基因。我们通过替代MLPA试剂盒证实了结果，并通过Array CGH表征了BRCA1缺失。我们描述的第一例患者没有强烈的家族病史，谁发展为早发性双侧乳腺癌与新生的完全BRCA1基因缺失在生发系。检测到的缺失从VAT1位点周围区域开始到NBR1基因的开始，包括RND2、ΨBRCA1、BRCA1和NBR2完整基因。这一发现支持了对没有家族史的年轻乳腺癌患者以及之前其他变异检测呈阴性的遗传性乳腺癌和卵巢癌家族的BRCA基因进行大规模基因组重排筛查。
Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes. We analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH. We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes. This finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.
登录
查看更多内容
DOI：
10.1073/pnas.92.10.4362
发表时间：
1995-05-09
影响因子：
11.1
作者：
BROWN, MA;JONES, KA;SOLOMON, E
通讯作者：
SOLOMON, E
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
DOI：
10.1158/1078-0432.ccr-10-0939
发表时间：
2010-10-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Anders CK;Winer EP;Ford JM;Dent R;Silver DP;Sledge GW;Carey LA
通讯作者：
Carey LA
影响因子：
64.8
作者：
Heng, Julian Ik-Tsen;Nguyen, Laurent;Guillemot, Francois
通讯作者：
Guillemot, Francois
影响因子：
3.9
作者：
Gad, Sophie;Bieche, Ivan;Stoppa-Lyonnet, Dominique
通讯作者：
Stoppa-Lyonnet, Dominique