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.
- ENIGMA Virtual Meeting 2021
The 18th ENIGMA meeting has been organized online from 5-7 October, 2021. For details see the membership meeting page.
- Controlled terminology for reporting germline cancer susceptibility variants
This review suggests a framework for a common vocabulary that may facilitate understanding and clarity in clinical reporting of germline genetic tests for cancer susceptibility. (Spurdle et al., 2019)
- Large scale multifactorial likelihood quantitative analysis
Research and clinical data for multifactorial likelihood analysis were collated enabling classification based on posterior probability of pathogenicity for 734 variants. (Parsons et al., 2019)
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.