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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7389 BARD1 81479 81479,81479 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7389BARD181479 81479(x2) $540 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

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.

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

Name
Ataxia Telangiectasia Syndrome via the ATM Gene
Fanconi Anemia via the PALB2/FANCN Gene
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel
Hereditary Breast and Ovarian Cancer via the RAD50 Gene
Hereditary Breast Cancer via the CHEK2 Gene
Hereditary Endometrial Cancer Panel

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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