Hereditary Breast & Ovarian Cancer Panel
BRCA1/BRCA2 and 20+ related gene screening
What is this test?
Our Hereditary Breast and Ovarian Cancer Panel tests BRCA1, BRCA2, and over 20 additional genes associated with hereditary breast and ovarian cancer risk. Knowing your mutation status can be life-changing — it opens the door to enhanced screening with breast MRI, risk-reducing medications, and preventive surgical options that can dramatically reduce cancer risk. For those already diagnosed, results may qualify you for targeted therapies like PARP inhibitors.
Key Benefits
While BRCA1 and BRCA2 are the most well-known, genes like PALB2, ATM, CHEK2, RAD51C, RAD51D, and BRIP1 also significantly increase breast and ovarian cancer risk. This panel catches them all.
BRCA carriers are recommended for annual breast MRI starting at age 25–30 and enhanced ovarian cancer screening. Early detection through surveillance saves lives.
For high-risk mutation carriers, options include risk-reducing mastectomy (up to 95% breast cancer risk reduction) and salpingo-oophorectomy (significantly reduces ovarian cancer risk).
BRCA-positive breast and ovarian cancer patients may qualify for PARP inhibitor therapy (olaparib, niraparib, rucaparib), which has shown significant survival benefits.
How It Works
A pre-test session with a genetic counselor reviews your personal and family history and discusses potential outcomes.
A blood draw or saliva sample is collected at your clinic, hospital, or through a home collection kit.
BRCA1, BRCA2, and 20+ additional breast/ovarian cancer genes are sequenced with full deletion/duplication analysis.
Variants in BRCA1/2 are classified using ENIGMA consortium criteria. Other genes follow ACMG/AMP and ClinGen expert panel guidelines.
Report includes mutation status, lifetime cancer risk estimates, NCCN surveillance recommendations, and risk-reduction options.
Who should consider this test?
- Women with a personal or family history of breast cancer, especially before age 50
- Women with a personal or family history of ovarian, fallopian tube, or peritoneal cancer
- Individuals of Ashkenazi Jewish heritage (higher BRCA1/2 mutation prevalence)
- Women diagnosed with triple-negative breast cancer
- Men with a family history of breast cancer or with prostate cancer at a young age
- Anyone with a known BRCA or related mutation in the family
Conditions Screened
Accuracy & Clinical Evidence
>99.5% analytical sensitivity for SNVs, small indels, and large rearrangements in BRCA1/2 and all panel genes
BRCA1 carriers have a 55–72% lifetime risk of breast cancer and a 39–44% risk of ovarian cancer. BRCA2 carriers have a 45–69% lifetime risk of breast cancer and an 11–17% risk of ovarian cancer. NCCN guidelines recommend multi-gene panel testing for all individuals meeting hereditary breast/ovarian cancer criteria. PARP inhibitors have demonstrated significant progression-free survival benefits in BRCA-positive breast and ovarian cancer.
Scientific Detail
Full coding sequence and ±20 bp flanking intronic regions are captured for all panel genes. BRCA1/2 analysis includes known deep intronic variants and large genomic rearrangements. CNV analysis uses a read-depth algorithm validated against MLPA with >99% concordance. Variant classification follows ENIGMA (for BRCA1/2), ClinGen expert panels, and ACMG/AMP 2015 standards.
For Healthcare Providers
This panel sequences BRCA1, BRCA2, and 20+ additional breast/ovarian cancer genes with full deletion/duplication analysis for every gene. BRCA1/2 variants are classified using ENIGMA criteria. Mean coverage exceeds 200x. Large rearrangement detection sensitivity is validated against MLPA. Ashkenazi Jewish founder mutations (BRCA1 185delAG, 5382insC; BRCA2 6174delT) are specifically targeted and confirmed.
Important Limitations
- A negative result does not eliminate breast or ovarian cancer risk. Most breast cancers (~85%) are not caused by inherited high-penetrance gene mutations.
- Variants of uncertain significance (VUS) should not be used for clinical decision-making.
- Risk estimates for moderate-penetrance genes (ATM, CHEK2) are population-level averages and may vary based on family history.
- This panel does not assess polygenic risk scores or common low-penetrance SNPs that collectively contribute to breast cancer risk.
- Somatic tumor mutations are not detected — for treatment-guiding tumor analysis, refer to our somatic tumor profiling panels.
Frequently Asked Questions
Test Details
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Speak with our team to learn more about ordering this test or to get a consultation.
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