Prediction, verification, and clinical significance of splicing aberrations associated with BRCA1 and BRCA2 variants

有许多家族的乳腺癌基因BRCA1和BRCA2序列发生变化，其后果难以预测。不可能向这些妇女或其面临风险的家庭成员提供信息丰富的遗传咨询。这项研究旨在完善计算机预测模型，用于预测序列变化是否会破坏基因产物在细胞中的排列方式，以及破坏的程度将导致癌症。这将改善患者管理。

There are many families with sequence changes in the breast cancer genes BRCA1 and BRCA2 for which the consequences cannot be easily predicted. It is not possible to offer informative genetic counselling to these women or their at-risk family members. This study aims to refine computer prediction models that are used to predict if sequence changes disrupt the way the gene product is collated in the cell, and what amount of disruption will lead to cancer. This will improve patient management.