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

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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.