Working Groups

All working groups are focused on research and translation related to BRCA1, BRCA2 and other known or suspected breast cancer genes

Analytical

Purpose/Scope of Working Group

To design and implement studies that improve, develop and apply statistical analyses for assessing clinical relevance of variants.

Splicing

Purpose/Scope of Working Group

To conduct large-scale studies that improve the clinical classification of likely spliceogenic variants.

 

Functional

Purpose/Scope of Working Group

To develop and use functional assays to contribute to the classification (interpretation) of variants.

Pathology

Purpose/Scope of Working Group

To identify tumor markers to be integrated into the multifactorial likelihood model for clinical interpretation of variants.

Clinical

Purpose/Scope of Working Group

To translate into the clinical arena relevant information regarding classification of variants of uncertain clinical significance.