• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit


Associated disorders

The BARD1 gene is associated with autosomal dominant predisposition to breast cancer (MedGen UID: 87542). Elevated risks for ovarian cancer and neuroblastoma have also been suggested (PMID: 22006311, 23334666). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

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BARD1 (BRCA1-associated RING domain 1) is a nuclear protein that shares structural and functional similarities to the BRCA1 tumor suppressor protein, containing both an N-terminal RING domain and two C-terminal BRCT domains. BARD1 heterodimerizes with BRCA1 and forms a complex having E3 ubiquitin ligase activity, which functions in multiple biological pathways related to DNA damage response and repair. Loss of BARD1 function due to mutation is therefore expected to contribute to the onset of cancer (PMID: 8944023, 16618730).

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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