Hereditary Cancer Program, Institut Català d'Oncologia, Hospital Duran i Reynals - Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Girona (JB, ED, AI and AV), Spain.
Breast Cancer Res Treat. 2011 Nov;130(1):341-4. doi: 10.1007/s10549-011-1673-1. Epub 2011 Jul 15.
In this study, we present a novel complex rearrangement in the BRCA1 gene. The genomic rearrangement was identified using one of the two commercially available MLPA BRCA1 kits but was not confirmed with the other. In this report, we present the full characterization at the DNA and RNA levels of a new partial deletion of exon 20 of BRCA1. This is a complex deletion with four breakpoints which promotes aberrant splicing with partial deletion of exon 20 plus the insertion of a cryptic exon corresponding to a fragment of intron 20. The aberrant splicing generates an abnormal transcript with a frameshift that will result in a truncated BRCA1 protein.
在这项研究中，我们呈现了一个 BRCA1 基因的新型复杂重排。该基因组重排是使用两种市售的 MLPA BRCA1 试剂盒之一发现的，但另一种试剂盒未确认。在本报告中，我们呈现了 BRCA1 外显子 20 全新部分缺失的 DNA 和 RNA 水平的完整特征。这是一个具有四个断点的复杂缺失，导致异常剪接，部分缺失外显子 20 加上插入一个对应于内含子 20 片段的隐匿外显子。异常剪接产生一个移码的异常转录本，导致截断的 BRCA1 蛋白。
