Associated Papers
Distinct mechanisms of recognition of phosphorylated RNAPII C-terminal domain by BRCT repeats of the BRCA1-BARD1 complex.
Klapstova V et al.
The Journal of Biological Chemistry, 2026
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE et al.
Clinical and Experimental Medicine, 2023
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
Tung N et al.
Npj Precision Oncology, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 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
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
Matta BP et al.
Scientific Reports, 2022
Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
Brahim SM et al.
Bmc Cancer, 2022
Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.
Hercules SM et al.
Cancer Causes & Control : Ccc, 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
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.
Delcourt T et al.
Cancers, 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
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 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
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Zayas-Villanueva OA et al.
Bmc Cancer, 2019
Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
Al Hannan F et al.
Molecular Genetics & Genomic Medicine, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.
Hurst Z et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Genetics of breast cancer in African populations: a literature review.
Abbad A et al.
Global Health, Epidemiology and Genomics, 2018
Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.
Hirotsu Y et al.
Oncotarget, 2017
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.
Riahi A et al.
Journal of Theoretical Biology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
Peixoto A et al.
Clinical Genetics, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.
Stordal B et al.
Molecular Oncology, 2013
Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
Rummel S et al.
Breast Cancer Research and Treatment, 2013
BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.
Juwle A et al.
Medical Oncology (northwood, London, England), 2012
A guide for functional analysis of BRCA1 variants of uncertain significance.
Millot GA et al.
Human Mutation, 2012
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
Fackenthal JD et al.
International Journal of Cancer, 2012
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
Jalkh N et al.
Hereditary Cancer in Clinical Practice, 2012
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
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg A et al.
Human Mutation, 2010
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Lee E et al.
Breast Cancer Research : Bcr, 2008
BRCA1 and BRCA2 status in a Central Sudanese series of breast cancer patients: interactions with genetic, ethnic and reproductive factors.
Awadelkarim KD et al.
Breast Cancer Research and Treatment, 2007
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
Tavtigian SV et al.
Journal of Medical Genetics, 2006
Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.
Nanda R et al.
Jama, 2005
BRCA1 variants in a family study of African-American and Latina women.
McKean-Cowdin R et al.
Human Genetics, 2005
Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients.
Fackenthal JD et al.
Journal of Medical Genetics, 2005
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V et al.
Journal of Medical Genetics, 2004