Associated Papers
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
BARD1 mystery: tumor suppressors are cancer susceptibility genes.
Hawsawi YM et al.
Bmc Cancer, 2022
Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
Benito-Sánchez B et al.
Scientific Reports, 2022
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
Rofes P et al.
Scientific Reports, 2021
Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
Stempa K et al.
Cancers, 2021
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
Alenezi WM et al.
Genes, 2020
Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.
AlHarthi FS et al.
Npj Genomic Medicine, 2020
BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
Suszynska M et al.
Cancers, 2019
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Koczkowska M et al.
Cancers, 2018
Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.
Cho HG et al.
Jci Insight, 2018
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F et al.
Gastroenterology, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Antagonizing functions of BARD1 and its alternatively spliced variant BARD1δ in telomere stability.
Pilyugin M et al.
Oncotarget, 2017
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Sanderson SC et al.
European Journal of Human Genetics : Ejhg, 2017
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
New concepts on BARD1: Regulator of BRCA pathways and beyond.
Irminger-Finger I et al.
The International Journal of Biochemistry & Cell Biology, 2016
Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.
Ratajska M et al.
Oncology Reports, 2015
Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
Klonowska K et al.
Scientific Reports, 2015
Hereditary ovarian cancer: not only BRCA 1 and 2 genes.
Toss A et al.
Biomed Research International, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Cancer predisposing BARD1 mutations in breast-ovarian cancer families.
Ratajska M et al.
Breast Cancer Research and Treatment, 2012