Risultati di ricerca
Recentemente, sono stati sviluppati dal consorzio Enigma criteri specifici per l’interpretazione del significato clinico (accertamento di rischio ereditario) delle varianti costituzionali dei geni BRCA.
Introduzione. La presenza di una variante patogenetica (VP) costituzionale nei geni BRCA1/BRCA2 è associata ad un incremento del rischio di sviluppare tumori della mammella, dell’ovaio, del pancreas e della prostata. Queste Raccomandazioni sono relative all’implementazione del test BRCA e hanno una doppia possibile applicazione: l ...
26 dic 2018 · The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probab …
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 †
BRCA Exchange Web Portal. The BRCA Exchange web portal is the largest public source for information on BRCA1 and BRCA2 variants. By default, the web portal shows variants that have been expert-classified by an international panel (the ENIGMA consortium). By switching from the ‘summary view’ to the ‘detail view’, users may also explore ...
26 dic 2018 · The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 ...
