Article
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.
Human mutation - 1 Jan 2012
Spurdle Amanda B, Healey Sue, Devereau Andrew, Hogervorst Frans B L, Monteiro Alvaro N A, Nathanson Katherine L, Radice Paolo, Stoppa-Lyonnet Dominique, Tavtigian Sean, Wappenschmidt Barbara, Couch Fergus J, Goldgar David E
Abstract excerpt
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...
Topics
- Algorithms
- Alleles
- Breast Neoplasms
- Data Interpretation, Statistical
- Female
- Genes, BRCA1
- Genes, BRCA2
- Genetic Predisposition to Disease
- Genetic Testing