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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.
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.
Targeted NGS Panels –Diagnostic. Resequencing of selected regions of interest (typically 1KB–1MB). Small targeted gene regions are captured (hybridization) or amplified and sequenced. Mutations of genes with clinical significance. Deeper sequencing. Low input DNA, lower cost, short TAT. Limited genomic coverage.
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 ...
1 set 2022 · AbstractPurpose:. The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology) variant classification framework, which incorporates multiple sources of evidence ...
This consortium serves as the BRCA expert review body of ClinGen. ENIGMA uses classification criteria tuned specifically for the BRCA genes to evaluate the clinical significance of BRCA1/2 variants. Evidence reviewed includes many different types of data, including population frequencies, clinical information, and epidemiological measures.
ENIGMA uses classification criteria tuned specifically for the BRCA genes to evaluate the clinical significance of BRCA1/2 variants. Evidence reviewed includes many different types of data, including population frequencies, clinical information, and epidemiological measures.
