BRCA1 5382insC — Ashkenazi founder variant
A BRCA1 5382insC variant has been detected.
You have a specific BRCA1 gene change that's well known for raising breast and ovarian cancer risk.
A BRCA1 pathogenic variant associated with substantially elevated lifetime risks of breast and ovarian cancer. Confirmation by a clinical laboratory and consultation with a genetic counsellor are essential.
Your lifetime risk of breast and ovarian cancer is much higher than the population average. Before acting on this, confirm the result with a clinical lab and speak to a genetic counsellor.
What this means
5382insC is the second of three founder BRCA variants in Ashkenazi Jewish populations and is also found in Eastern European and Russian populations. Like 185delAG, it causes loss of BRCA1 function. Management options — enhanced screening, risk-reducing surgery, chemoprevention — are well-established and meaningfully change outcomes.
This is the second of three well-known BRCA1 changes most often seen in Ashkenazi Jewish, Eastern European, and Russian families. Like the 185delAG change, it breaks BRCA1 so it can no longer help repair damaged DNA properly, which raises lifetime risk of breast and ovarian cancer significantly. Earlier and more frequent screening, certain preventive medicines, and in some cases preventive surgery genuinely change outcomes when started early.
Caveats
- Always confirm with a clinical-grade laboratory before acting.
- A negative chip result does not rule out other BRCA1/BRCA2 variants.
- Genetic counselling is strongly recommended before sharing or acting on this result.
Populations
- Ashkenazi Jewish, Eastern European, and Russian populations