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.