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.
New ENIGMA publication describes the existence of 5’ non-coding variants in BRCA1 and BRCA2 that alter promoter activity and protein binding (Burke et al., 2018)
Recent ENIGMA publication describes the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) (Tudini et al, 2018)
Two recent publications describe the cancer risk associated with hypomorphic variants in BRCA1 and BRCA2.
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.