Working Groups

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

Analytical/Database

Purpose/Scope of Working Group

To provide input and guidance to the development and maintenance of databases for the ENIGMA consortium
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.