Familial breast cancer

Gene: BARD1

Comment on list classification: This gene was reviewed by the cancer expert group and the evidence was determined as sufficient for inclusion on breast cancer panels. Therefore, upgrading from Red to Green.

Created: 13 Jun 2025, 10:36 a.m. | Last Modified: 13 Jun 2025, 10:36 a.m.

Panel Version: 1.23

Green List (high evidence)

Discussed at Cancer/Scientific Leads/UKCGG council meeting re Test Directory updates 2025/2026 (30/01/2025) - consensus was that evidence is sufficient to warrant addition of this gene to R208 panel. Strong evidence indicating that BARD1 is a moderate-risk breast cancer susceptibility gene, with risks associated with pathogenic variants in this gene similar to those associated with variants in other moderate risk genes already included on the panel (PMID: 33471991).

We propose reporting should be restricted to truncating variants, and will provide gene-specific reporting guidance to GLHs via UKCGG/CanVIG as we have for other moderate risk genes (https://www.ukcgg.org/information-education/exceptional-variantsgene-specific-variant-reporting/)

Created: 24 Apr 2025, 8:56 a.m. | Last Modified: 24 Apr 2025, 8:56 a.m.

Panel Version: 1.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
breast cancer

Publications

• PMID: 33471991

Green List (high evidence)

PMID: 37592023 metaanlysis also reports significant association with breast cancer

Created: 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

• PMID: 37592023

Red List (low evidence)

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.