Associated Papers
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
Massive parallel sequencing unveils homologous recombination deficiency in follicular dendritic cell sarcoma.
Lorenzi L et al.
Haematologica, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
Lee M et al.
Nucleic Acids Research, 2021
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
Barakeh DH et al.
Oncotarget, 2021
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Biswas K et al.
Npj Genomic Medicine, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.
Bozsik A et al.
International Journal of Molecular Sciences, 2020
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Meulemans L et al.
Cancer Research, 2020
Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.
Harpaz N et al.
Journal of Oncology, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.
Wong C et al.
Plos Genetics, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.
Brandsma I et al.
Cell Reports, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
The functional impact of variants of uncertain significance in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C et al.
Bmc Medical Genomics, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD et al.
Journal of Medical Genetics, 2016
DiMeX: A Text Mining System for Mutation-Disease Association Extraction.
Mahmood AS et al.
Plos One, 2016
BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.
Yılmaz NK et al.
Journal of the Turkish German Gynecological Association, 2016
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M et al.
Plos One, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
Brandão RD et al.
Breast Cancer Research and Treatment, 2011
A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.
Warren CR et al.
Experimental Cell Research, 2011
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Biswas K et al.
Blood, 2011
Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.
Laitman Y et al.
Breast Cancer Research and Treatment, 2011
A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.
Coulet F et al.
Genetic Testing and Molecular Biomarkers, 2010