What this means

185delAG is one of three founder BRCA variants common in Ashkenazi Jewish populations. It causes loss of BRCA1 function, impairing DNA double-strand break repair. Risk-reducing options (enhanced screening, prophylactic surgery, chemoprevention) are well-established and meaningfully change cancer outcomes when started early. Cascade testing for first-degree relatives is appropriate.

This is one of the most well-established gene changes that raises cancer risk. It's a tiny deletion in the BRCA1 gene, most common in people of Ashkenazi Jewish ancestry. BRCA1 normally helps your cells repair damaged DNA, and a broken copy raises lifetime risk of breast and ovarian cancer well above the population average. The good news is that earlier and more frequent screening, certain preventive medicines, and in some cases preventive surgery genuinely change outcomes when started early. First- degree relatives (parents, siblings, children) may want to test too, since each has a 50% chance of having inherited the same change.

Caveats

• Direct-to-consumer chip results have a small but non-zero false positive rate. Clinical confirmation is essential before any medical decision.
• A negative chip result does NOT rule out other BRCA variants — only specific tested positions are checked.
• This finding carries significant psychological and family-planning implications. A certified genetic counsellor should be involved.
• Insurance and employment protections vary by jurisdiction (e.g. GINA in the US).

Populations

• Particularly common in Ashkenazi Jewish populations (~1% allele frequency)

References

• Struewing et al. — The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews (NEJM, 1997)
• Kuchenbaecker et al. — Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers (JAMA, 2017)