ENIGMA—Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
✍ Scribed by Amanda B. Spurdle; Sue Healey; Andrew Devereau; Frans B. L. Hogervorst; Alvaro N. A. Monteiro; Katherine L. Nathanson; Paolo Radice; Dominique Stoppa-Lyonnet; Sean Tavtigian; Barbara Wappenschmidt; Fergus J. Couch; David E. Goldgar; on behalf of ENIGMA
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 148 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need for clear interpretation of the test results is apparent. However, for many disease genes, including the breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction of tests results in the detection of a genetic variant for which disease association is not known. The finding of an "unclassified" variant (UV)/variant of uncertain significance (VUS) complicates genetic test reporting and counseling. As these variants are individually rare, a large collaboration of researchers and clinicians will facilitate studies to assess their association with cancer predisposition. It was with this in mind that the ENIGMA consortium (www.enigmaconsortium.org) was initiated in 2009. The membership is both international and interdisciplinary, and currently includes more than 100 research scientists and clinicians from 19 countries. Within ENIGMA, there are presently six working groups focused on the following topics: analysis, clinical, database, functional, tumor histopathology, and mRNA