grant

Prediction, verification, and clinical significance of splicing aberrations associated with BRCA1 and BRCA2 variants [ 2011 - 2013 ]

Also known as: Identifying genetic variants that alter splicing to increase risk of cancer

Research Grant

[Cite as https://purl.org/au-research/grants/nhmrc/1010719]

Researchers: Prof Amanda Spurdle (Principal investigator) ,  Dr Sean Tavtigian Prof Melissa Brown

Brief description 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.

Funding Amount $AUD 572,995.75

Funding Scheme Project Grants

Notes Standard Project Grant

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Identifiers
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ACN 633 798 857