Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system
For the diagnostic analysis of the <i>BRCA1</i> and <i>BRCA2</i> genes, the use of the ENIGMA VCEP specifications gives the best possible result in the clinical translation of genetic variants. The University of California Santa Cruz Genome Browser <i>BRCA1</i>/<i>BRCA2</i> ENIGMA track set significantly simplified the interpretation process.
Authors
- Elke Holinski‐Feder (ORCID: https://orcid.org/0000-0002-5172-2818)
- Anna Benet‐Pagès (ORCID: https://orcid.org/0000-0001-6770-1299)
- Tobias Wohlfrom
- Maximilian Haeussler (ORCID: https://orcid.org/0000-0001-8721-8253)
- Verena Steinke‐Lange (ORCID: https://orcid.org/0000-0001-8491-3234)
- Luis R Nassar (ORCID: https://orcid.org/0000-0002-6706-2586)
- Andreas Laner
Institutions
- University of California, Santa Cruz (US)
- Helmholtz Zentrum München (DE)
- Medical Genetics Center (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2024.101961
- Citations
- 7
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 12.72
Funders
- National Institutes of Health
- National Human Genome Research Institute