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ENIGMA is an international consortium of investigators focused on. to explore optimal avenues of communication of such information at the provider and patient level. An ENIGMA member is currently defined as a researcher or research group (consortium) who is willing to work collaboratively towards classification of variants and contribute data ...
Hered Cancer Clin Pract. 2016;14:10. PMID. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group. Ann Oncol. 2015 Oct;26 (10):2057-65.
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 …
8 dic 2020 · In BRCA Exchange, only 7445 variants out of more than 40,000 variants, are classified by the Evidence Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) expert panel 14.
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 information on variants ...
19 dic 2019 · BRCA prediction models. ... Spurdle AB, Healey S, Devereau A, et al. ENIGMA—Evidence-based network for the interpretation of germline mutant alleles: ...
26 dic 2018 · To assess ENIGMA’s concordance with BRCA Share, we analyzed 5,452 variants—most of the BRCA Share set—by running them through the BRCA Exchange pipeline. BRCA Share contained 3,938 variants not assessed by ENIGMA, and BRCA Exchange contained 4,640 variants that were assessed by ENIGMA but not found in BRCA Share.
