April 15, 2026 article Open access Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications npj Breast Cancer DOI: 10.1038/s41523-026-00949-6 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 6 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 101 citations Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 40 citations Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays 2020 Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 39 citations Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 2020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer 34 citations Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer 2025 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 2 citations Abstract 7325: Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project 2024 Cancer Research conference-abstract Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer 1 citations 6 results