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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 and/or ovarian predisposition genes,
This is the BRCA Exchange Summary View. Clinical significance for variants, where denoted, is from expert review by the ENIGMA consortium. Additional variant review is ongoing.
ENIGMA Classification Criteria. On August 3, 2023 the ClinGen ENIGMA BRCA1/2 Variant Curation Expert Panel (VCEP) was officially approved to conduct sustained variant curation for BRCA1 and BRCA2.
28 feb 2018 · I geni BRCA1 e BRCA2 sono i principali responsabili della predisposizione genetica a sviluppare il tumore. Anche l'uomo può essere colpito da cancro al seno che, in particolare in età giovanile, risulta associato alla presenza di BRCA2 e, in misura minore, di BRCA1.
ENIGMA provides a mechanism to pool resources, exchange methods and data, and coordinately develop and apply algorithms for classification of variants in BRCA1 and BRCA2. It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes.
- Amanda B. Spurdle, Sue Healey, Andrew Devereau, Frans B L Hogervorst, Alvaro N A Monteiro, Katherine...
- 2012
ENIGMA is a multidisciplinary international network that provides a mechanism to pool resources, exchange methods and data at many different levels, and to co-ordinately develop and apply algorithms for variant classification.
ENIGMA provides a mechanism to pool resources, exchange methods and data, and coordinately develop and apply algorithms for classification of variants in BRCA1 and BRCA2. It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes.
