Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W et al.
Cancers, 2022
35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
Cavaillé M et al.
Genes, Chromosomes & Cancer, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.
Suszynska M et al.
Genes, 2020
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle N et al.
Breast Cancer Research : Bcr, 2019
31036035 (PubMed )
Supplement: 13058_2019_1137_MOESM1_ESM.docx
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29790872 (PubMed )
Supplement: NIHMS952080-supplement-Table_S1.docx
New concepts on BARD1: Regulator of BRCA pathways and beyond.
Irminger-Finger I et al.
The International Journal of Biochemistry & Cell Biology, 2016
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