Hereditary Breast and Ovarian Cancer via the BARD1 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7389 | BARD1 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Hereditary breast and ovarian cancer (HBOC; OMIM 114480) is characterized by tumors located in the breast and ovary that show familial inheritance. Approximately 5-10% of breast and ovarian cancer cases are the result of genetic predisposition due to gene-specific variants. Tumors tend to occur at an earlier age (i.e. < 50 years) and occur bilaterally; males with breast cancer should also be tested for germline breast cancer variants. There is also a higher predisposition of HBOC in specific ethnicities, such as the Ashkenazi Jewish population (Petrucelli et al. GeneReviews. 2011). Early detection of germline variants in HBOC can be used for prophylactic mastectomy or oophorectomy which may reduce the morbidity and mortality of these conditions.
Genetics
Hereditary breast and ovarian cancers (HBOCs) are mainly caused by variants in the BRCA1 and BRCA2 genes (Miki et al. Science 266:66-71, 1994; Wooster et al. Nature 378:789-792, 1995), which are tumor suppressors that are involved in cellular proliferation and DNA repair. BRCA1-associated RING domain 1 (BARD1, OMIM 601593), also a tumor suppressor, is involved in the development of hereditary breast and ovarian cancer in a minority of cases. The BARD1 protein interacts with both BRCA1 and BRCA2 proteins. BARD1 aids in BRCA1 stability, nuclear localization and E3 ubiquitin ligase function (Irminger-Finger. Gynecologic Oncology 117:211-215, 2010). HBOC is inherited in an autosomal dominant manner and presents with incomplete penetrance. The most prominent variants in BARD1 are missense variants. Nonsense, splice site, small insertions and deletions, and large deletions are less frequent (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
Analytical sensitivity should be high because the majority of variants reported are readily detectable by gene sequencing. Clinical sensitivity is low because HBOC has multiple underlying causes including environment and genetics, and BARD1 variants have only been reported in a minority of cases. (De Brakeleer et al. Hum Mutat 31(3):E1175, 2010). Large duplications and deletions have been infrequently reported.
Testing Strategy
This test provides full coverage of all coding exons of the BARD1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Individuals with a clinical presentation or family of hereditary breast and ovarian cancer and have tested negative for BRCA1 and BRCA2 gene variants. Males with breast cancer and individuals with an Ashkenazi descent with a concern for HBOC should also be tested. Earlier detection of clinical abnormalities may lead to earlier treatment and better outcomes. Similar to BRCA variant testing, this is a predictive test and provides only information regarding the likelihood of breast and/or ovarian cancer. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.
Individuals with a clinical presentation or family of hereditary breast and ovarian cancer and have tested negative for BRCA1 and BRCA2 gene variants. Males with breast cancer and individuals with an Ashkenazi descent with a concern for HBOC should also be tested. Earlier detection of clinical abnormalities may lead to earlier treatment and better outcomes. Similar to BRCA variant testing, this is a predictive test and provides only information regarding the likelihood of breast and/or ovarian cancer. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| BARD1 | 601593 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Familial Cancer Of Breast | AD | 114480 |
Related Tests
Citations
- De Brakeleer et al. (2010). "Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families." Hum Mutat Mar;31(3):E1175-85. PubMed ID: 20077502
- Human Gene Mutation Database (Bio-base).
- Irminger-Finger. (2010). "BARD1, a possible biomarker for breast and ovarian cancer." Gynecologic Oncology 117:211-215. PubMed ID: 19959210
- Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66–71. PubMed ID: 7545954
- Petrucelli et al. GeneReviews. 2011.
- Petrucelli N, Daly MB, Feldman GL. 2013. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301425
- Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789–792. PubMed ID: 8524414
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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