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首页> 外文期刊>Genetic testing and molecular biomarkers >Deletion of Exons 1 a-2 of BRCA 1:A Rather Frequent Pathogenic Abnormality
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Deletion of Exons 1 a-2 of BRCA 1:A Rather Frequent Pathogenic Abnormality

机译：删除的外显子1 A的BRCA 1:一个相当频繁的致病性异常

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Women carrying a pathogenic mutation in either BRCA1 or BRCA2 have a major risk of developing breast and/or ovarian cancer. The majority of mutations in these genes are small point mutations. Since the development of multiplex ligation-dependent probe amplification, an increasing number of large genomic rearrangements have been detected. Here, we describe the characterization of pathogenic deletions of exons la-2 of BRCA1 in six families using loss of heterozygosity, array comparative genomic hybridization, and sequence analyses. Two families harbor a 37 kb deletion starting in intron 2 of *BRCA1, encompassing NBR2, and exons la-2 of BRCA1, while the other four families have an 8 kb deletion with breakpoints in intron 2 of NBR2 and intron 2 of BRCA1. This observation, together with the previously described families with exon la-2 deletions of BRCA1, demonstrates that this type of deletions is relatively frequent in breast/ovarian cancer families.
机译：女性携带致病突变BRCA1或BRCA2产生重大的风险乳腺癌和卵巢癌。这些基因的突变是小一点突变。ligation-dependent探测器放大,一个越来越多的大型基因组重组被检测到。致病能力的外显子缺失的表征la-2 BRCA1在六个家庭使用的损失杂合性,阵列比较基因组杂交和序列分析。家庭港湾37 kb删除从* BRCA1基因内区2,包括NBR2和外显子la-2 BRCA1,而其他四个家庭一个8 kb删除断点的第2内含子NBR2和BRCA1基因内区2。与前面描述的家庭与外显子la-2 BRCA1的删除,演示了这种类型的缺失是相对的频繁的在乳腺癌和卵巢癌的家庭。

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