Associated disorders

The BARD1 gene is associated with an increased risk for autosomal dominant breast and possibly ovarian cancer in individuals who carry a single pathogenic BARD1 variant (MedGen UID: 87542).

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BARD1 (BRCA-associated RING domain 1) interacts with the N-terminal region of BRCA1 and is involved in DNA replication checkpoint response.

BARD1 heterozygote
MedGen UID: 87542

Clinical condition
Women who are carriers of a single pathogenic BARD1 variant have an increased risk for breast cancer, although specific risks are not yet determined (PMID: 21344236 20077502 ). There may also be an increased risk for ovarian cancer, but the current evidence is preliminary (PMID: 21344236 24549055 22006311 16825437 26720728 ). An individual with a BARD1 pathogenic variant will not necessarily develop cancer in her lifetime, but the risk for cancer is increased over the general population risk.

BARD1 also has preliminary evidence of an association with neuroblastoma, and is therefore available as a “preliminary-evidence” gene on the Invitae Nervous System/Brain Cancer Panel (PMID: 21941004 23334666 ). Preliminary-evidence genes are selected from an extensive review of the literature and expert recommendations, but the association between the gene and the specific condition has not been completely established. This uncertainty may be resolved as new information becomes available, and therefore clinicians may continue to order these limited-evidence genes.

Gene information
The BARD1 gene forms a BRCA1-BARD1 heterodimer and coordinates a diverse range of cellular pathways, such as DNA damage repair, ubiquitination, and transcriptional regulation to maintain genomic stability. It is believed to play a central role in the control of the cell cycle in response to DNA damage (UniProt consortium, UniProtKB – Q99728 Accessed September 2015). If there is a pathogenic variant in this gene that prevents it from functioning normally, the risk of developing certain types of cancers is increased.

Hereditary predisposition to cancer due to pathogenic variants in the BARD1 gene has autosomal dominant inheritance. This means that an individual with a pathogenic variant has a 50% chance of passing the condition on to their offspring. Once a pathogenic mutation is detected in an individual, it is possible to identify at-risk relatives who can pursue testing for this specific familial variant. Many cases are inherited from a parent, but some cases can occur spontaneously (i.e., an individual with a pathogenic variant has parents who do not have it). An individual with a variant in BARD1 has a 50% risk of passing that variant on to offspring.

The National Comprehensive Cancer Network (NCCN) currently does not recommend additional breast cancer screening for individuals with a single pathogenic BARD1 variant beyond what is recommended for the general population. However, they caution that cancer screening should ultimately be guided by personal and family history ( The National Comprehensive Cancer Network. Breast and Ovarian Management Based on Genetic Test Results. Version 2.2015 ).

An individual’s cancer risk and medical management are not determined by genetic test results alone. Overall cancer risk assessment incorporates additional factors, including personal medical history, family history, and any available genetic information that may result in a personalized plan for cancer prevention and surveillance.

Even though the data regarding specific cancer risk estimates with pathogenic BARD1 variants are limited, knowing if a pathogenic variant is present is advantageous. At-risk relatives can be identified, enabling pursuit of a diagnostic evaluation. Further, the available information regarding hereditary cancer susceptibility genes is constantly evolving and more clinically relevant data regarding BARD1 are likely to become available in the near future. Awareness of this cancer predisposition encourages patients and their providers to inform at-risk family members, to diligently follow standard screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.

Review date: January 2016

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
BARD1 NM_000465.3