Evidence-based Network for the
Interpretation of Germline Mutant Alleles
ENIGMA is an international consortium of investigators focused on
- determining the clinical significance of sequence variants in BRCA1, BRCA2 and other known or suspected breast cancer genes,
- to provide this expert opinion to global database and classification initiatives, and
- to explore optimal avenues of communication of such information at the provider and patient level.
An ENIGMA member is currently defined as a researcher or research group (consortium) who is willing to work collaboratively towards classification of variants and contribute data from families with unclassified sequence variants, as required to aid in the variant classification projects of ENIGMA and/or conduct statistical analysis or laboratory-based assays aimed at classification of variants within a working group framework.
The ENIGMA Splicing Working Group members have just published a paper which highlights the importance of assessing naturally occurring alternative splicing for clinical evaluation of variants in disease-causing genes.
The ENIGMA meeting took place in Prague, Czech Republic, on 27-29 April 2016.
ENIGMA Clinical Working Group members recently published a paper “BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
Co-ordination of ENIGMA has received funding from: The Cancer Council Queensland of Australia [2015-present], an NCI sponsored Breast Cancer Specialized Program of Research Excellence (SPORE) at the Mayo Clinic (P50 CA116201) [2009-Present], NIH grants R01 CA192393 and R01 CA116167, and the Breast Cancer Research Foundation.
Disclaimer: Use of the ENIGMA website, and associated interpretation relating to gene variant pathogenicity, is subject to User discretion and responsibility. The information provided is not intended to be a substitute for professional risk assessment, and is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Gene variant classifications and classification methods are subject to change as further information becomes available.