Inherited breast cancer and ovarian cancer

Gene: BARD1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. Additional comments from reviewing GLHs: Propose that BARD1 are treated in the same way as ATM/CHEK2 (truncating variants only etc)

Created: 10 Dec 2025, 2:57 p.m. | Last Modified: 10 Dec 2025, 2:57 p.m.

Panel Version: 2.17

Comment on list classification: This gene was reviewed by the cancer expert group and the evidence was determined as sufficient for inclusion on this panel. Therefore, it should be updated to Green at the next GMS panel update.

Created: 13 Jun 2025, 10:34 a.m. | Last Modified: 13 Jun 2025, 10:34 a.m.

Panel Version: 2.14

Copied from Dmitrijs Rots (Children's Clinical University Hospital) review on 100K Familial breast cancer panel:

PMID: 37592023 metaanlysis also reports significant association with breast cancer

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, 3:23 p.m. | Last Modified: 29 Apr 2024, 3:23 p.m.
Panel Version: 1.20

Created: 13 Jun 2025, 10:32 a.m. | Last Modified: 13 Jun 2025, 10:32 a.m.

Panel Version: 2.13

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/)
Sources: NHS GMS, Expert Review, Literature

Created: 2 Jun 2025, 9:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
breast cancer

Publications

• PMID: 33471991