What are BRCA1 and BRCA2?
BRCA1 and BRCA2 are genes involved in DNA repair. Certain inherited pathogenic variants impair this function and increase susceptibility to several cancers.
Frequently asked questions about BRCA testing
Key points
- A BRCA pathogenic variant increases risk; it does not guarantee cancer.
- Men can inherit and transmit BRCA variants.
- A VUS is not a positive pathogenic result.
Which cancers are associated?
Pathogenic germline variants are strongly associated with breast and ovarian cancer and can also increase risks of pancreatic, prostate and male breast cancer. Risk differs by gene, sex, age, family history and other factors.
What does a positive result mean?
A positive germline result means a pathogenic or likely pathogenic variant was detected. It indicates increased susceptibility, not a diagnosis of cancer and not certainty that cancer will develop.
What does a negative result mean?
Interpretation depends on why testing was done. A true negative for a known family variant can be very informative. A negative multigene test in a family with strong cancer history may not completely explain or remove familial risk.
What is a VUS?
A variant of uncertain significance is a genetic change for which current evidence is insufficient to determine whether it increases disease risk. It should not be managed as though it were a confirmed pathogenic BRCA variant.
Why results matter for treatment
In people who already have cancer, BRCA status can sometimes influence surgical decisions, systemic treatment or eligibility for targeted therapies, depending on cancer type and clinical context.
Important: This resource is for general education and does not replace individual medical, genetic, legal or laboratory advice.
Clinical reference sources
Prepared with reference to current guidance from ACOG, ASRM, NCI and AABB as applicable to the topic. Individual laboratory reports and case-specific clinical advice remain authoritative.
- ACOG \u2014 Current Guidance: Cell-Free DNA/NIPT
- ACOG \u2014 Prenatal Genetic Screening Tests
- ASRM \u2014 The Use of PGT-A: Committee Opinion (2024)
- ASRM \u2014 Indications and Management of PGT-M
- NCI \u2014 Genetic Testing Fact Sheet
- NCI \u2014 BRCA Gene Changes: Cancer Risk and Genetic Testing
- AABB \u2014 DNA Relationship Testing FAQs
- AABB \u2014 Standards for Relationship Testing Laboratories
Considering BRCA testing?
Speak with our genetics team about whether BRCA testing is right for you and what your results may mean.