ArticleNature2025
Functional evaluation and clinical classification of BRCA2 variants.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41citing papers in PubMed
–field-weighted citation impact
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Who cites it
41 citing papers in PubMed.
- AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026Article
- Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B.NPJ precision oncology · 2026Article
- RAD51C breast cancer-identified variants with attenuated homologous recombination function exhibit sensitivity to combined PARP1 and ATR inhibition.NAR cancer · 2026Article
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Reclassification ofCurrent oncology (Toronto, Ont.) · 2026Article
- A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling.European journal of human genetics : EJHG · 2026Article
- 'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).medRxiv : the preprint server for health sciences · 2026Article
- Combining multiplexed functional data to improve variant classification.Genome medicine · 2026Article
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.American journal of human genetics · 2026Article
- Article
- Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.Molecular medicine (Cambridge, Mass.) · 2026Article
- Comprehensive evidence for the pathogenicity of theJournal of medical genetics · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Pancancer Fine-Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.NPJ breast cancer · 2026Review
- Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.Nature communications · 2026Article
- Article
- Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.Genome medicine · 2026Article
- Saturation Genome Editing TargetingCurrent issues in molecular biology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Huaizhi Huang *Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID 0009-0001-6186-7228
Chunling Hu *Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Hu.chunling@mayo.edu.ORCID 0000-0002-6814-4639
Jie NaDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-3435-1805
Steven N HartDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-7714-2734
Rohan David GnanaolivuDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Mohamed AbozaidDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-7831-9706
Tara RaoDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Yohannes A TecleabDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
CARRIERS Consortium
Tina PesaranAmbry Genetics, Aliso Viejo, CA, USA.
Paulo Cilas Morais LyraDepartment of Epidemiology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.ORCID 0000-0002-4403-6684
Rachid KaramAmbry Genetics, Aliso Viejo, CA, USA.
Siddhartha YadavDepartment of Oncology, Mayo Clinic, Rochester, MN, USA.
Katherine L NathansonPerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-6740-0901
Susan M DomchekPerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-5914-7272
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.
Mark RobsonDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-3109-1692
Miika MehineDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0003-0443-0625
Chaitanya BandlamudiMarie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.ORCID 0000-0003-1108-4919
Diana MandelkerDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0003-4154-0567
Alvaro N A MonteiroDepartment of Epidemiology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.ORCID 0000-0002-8448-4801
Edwin S IversenDepartment of Statistical Science, Duke University, Raleigh Durham, NC, USA.
Nicholas BoddickerDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Wenan ChenDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-0379-2368
Marcy E RichardsonAmbry Genetics, Aliso Viejo, CA, USA.ORCID 0000-0002-4626-4920
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.ORCID 0000-0001-9417-9985
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9MPaul Calabresi Program in Clinical/Translational Research at Mayo ClinicK12CA090628 · NCI · MAYO CLINIC ROCHESTER · PI WEROHA, SARAVUT · 2001 to 2025
$19.7MResolving the cancer relevance of predisposition gene mutationsR35CA253187 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2020 to 2026
$5.8MThe contribution of RAD51C and RAD51D to breast and ovarian cancerR01CA225662 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, WEROHA, SARAVUT · 2018 to 2024
$2.5MNCI NIH HHS K12 CA090628NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA225662NCI NIH HHS R35 CA253187
Abstract
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers
Indexed as
BRCA2 ProteinBayes TheoremBreast NeoplasmsCRISPR-Cas SystemsExonsFemaleGene EditingGene Knock-In TechniquesGenetic TestingHumansLoss of Function MutationMutation, MissenseOvarian NeoplasmsBRCA2 ProteinBRCA2 protein, human
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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.