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 develop and employ mathematical approaches for quantitatively assessing evidence types used in clinical classification of genetic variants.

Splicing

Purpose/Scope of Working Group

To conduct RNA-based studies that contribute to the clinical classification of genetic variants. 

 

Functional

Purpose/Scope of Working Group

To develop, clinically calibrate, and apply functional assays to contribute to the clinical classification of genetic variants. 

Pathology

Purpose/Scope of Working Group

To identify pathological measures that improve the clinical classification of genetic variants.

Clinical

Purpose/Scope of Working Group

To tackle clinical issues pertaining to genetic testing and variant classification, reporting, and actionability.