Familial breast cancer
Gene: BARD1
PMID: 37592023 metaanlysis also reports significant association with breast cancerCreated: 29 Apr 2024, 3:23 p.m. | Last Modified: 29 Apr 2024, 3:23 p.m.
Panel Version: 1.20
NCCN guidelines Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic:
"Breast Cancer Association Consortium and the CARRIERS case-control studies also found associations between a BARD1 P/LP variant and increased risk of triple-negative breast cancer (0.42%; OR, 9.29; 95% CI, 4.58–18.85 and 0.41%; OR, 3.18; 95% CI, 1.16–7.42, respectively).127,128 The panel recommends annual mammogram for carriers of a P/LP BARD1 variant beginning at 40 years of age, with consideration of annual breast MRI."Created: 29 Apr 2024, 3:20 p.m. | Last Modified: 29 Apr 2024, 3:20 p.m.
Panel Version: 1.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Comment when marking as ready: More evidence on penetrance needed before considering for diagnostic use.Created: 29 Jan 2016, 2:18 p.m.
Comment on list classification: Predisposition to breast cancer but no evidence of high penetrance effect with a clinically actionable pathway.Created: 29 Jan 2016, 2:18 p.m.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene BARD1 was changed to BIALLELIC, autosomal or pseudoautosomal
BARD1 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
BARD1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen