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首页> 外文期刊>Human mutation >Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G T as a case study
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G T as a case study

机译：位于与高水平替代剪接相关的区域中的剪接变体的表征：BRCA2 C.7976 + 5G＆GT; 如案例研究

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摘要

Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in consensus splice sites, but we may identify variants in complex genomic contexts for which bioinformatics is not precise enough. In this study, we characterize BRCA2 c.7976 + 5G T variant located in intron 17 which has an atypical donor site (GC). This variant was identified in three unrelated Spanish families and we have detected exon 17 skipping as the predominant transcript occurring in carriers. We have also detected several isoforms (Delta 16-18, Delta 17,18, Delta 18, and (sic)17q(224)) at different expression levels among carriers and controls. This study remarks the challenge of interpreting genetic variants when multiple alternative isoforms are present, and that caution must be taken when using in silico tools to identify potential spliceogenic variants located in GC-AG introns.
机译：许多BRCA1和BRCA2（BRCA1 / 2）遗传变体已经在mRNA水平上进行了研究，并且由于剪接改变而与遗传性乳腺癌和卵巢癌相关联。在评估位于共识均接头位点的变体时，在Silico工具中是可靠的，但我们可以识别复杂基因组背景下的变体，生物信息学不足以足够精确。在这项研究中，我们表征了BRCA2 C.7976 + 5G＆GT;位于内含子17的变体，具有非典型供体部位（GC）。该变体在三个无关的西班牙家庭中鉴定出来，我们检测到外显子17跳过作为在载体中发生的主要转录物。我们还在载体和控制中的不同表达水平下检测了几种同种型（Delta 16-18，Delta 17,18，Delta 18和（SiC）17Q（224））。本研究阐述了当存在多种替代同种型时解释遗传变体的挑战，并且在硅工具中使用时必须小心识别位于GC-AG内含子内的潜在剪切变体。

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