ENIGMA Consortium Classifies 734 BRCA1 and BRCA2 Variants
The ENIGMA consortium analyzed 1,395 variants in BRCA1 and BRCA2 genes, most of them intronic and missense changes. Using multifactorial likelihood analysis, researchers classified 734 variants. Of those, 447 were labeled likely benign and 94 likely pathogenic. The team compared their results to existing ClinVar submissions and found 248 classifications were new or substantially altered. The analysis pulled together multiple data types: variant location, co-segregation patterns, family history, tumor pathology, and case-control information. The method also incorporated bioinformatic predictions and checked whether variants co-occurred with known pathogenic mutations in the same gene.
Clinicians who interpret BRCA test results now have a resource to help assess uncertain variants linked to hereditary breast and ovarian cancer risk.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].