Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages - PubMed
3 days ago
- #Genetic Testing
- #Variant Reporting
- #Cancer Susceptibility
- ENIGMA consortium updated recommendations for reporting germline variants in cancer susceptibility genes.
- The project translated the recommendations into 20 languages, covering 11 widely spoken languages.
- Aims to improve genetic literacy among healthcare providers and standardize variant reporting.
- Aligns with recent BRCA1/BRCA2 specifications to ACMG/AMP rules by the ENIGMA Variant Curation Expert Panel.
- Highlights country-specific differences in breast cancer risk assessment and management.
- Seeks to minimize erroneous inferences and support informed decision-making in genetic testing for cancer predisposition.