BRCA1 c.68_69delAG (185delAG) — Ashkenazi Jewish founder mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BRCA1-ASHKENAZI-FOUNDER-185DELAG |
|---|---|
| Type | Biomarker |
| Aliases | BRCA1 185delAGBRCA1 185delAG founder mutationBRCA1 187delAGBRCA1 c.68_69delAG (185delAG) — засновницька мутація ашкеназіc.68_69delc.68_69delAG |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"exon": "2", "functional_impact": "loss_of_function", "gene": "BRCA1", "gene_hugo_id": "HGNC:1100", "hgvs_coding": "c.68_69delAG", "hgvs_protein": "p.Glu23ValfsTer17", "variant_type": "frameshift deletion"} |
| Related biomarkers | BIO-BRCA1-BRCA2-GERMLINE |
Notes
One of three Ashkenazi Jewish (AJ) founder mutations (with BRCA1 c.5266dupC / 5382insC and BRCA2 c.5946delT / 6174delT). Combined carrier frequency for the three AJ founder mutations is ~1 in 40 (~2.5%) in unselected AJ population, vs ~1 in 400 (~0.25%) for any BRCA1/2 pathogenic variant in non-AJ populations. NCCN 2025 endorses population-wide AJ founder-panel testing (3-mutation panel) regardless of family history. c.68_69delAG creates a premature termination codon in exon 2, abolishing BRCT-mediated homologous-recombination repair — full BRCA1 loss-of-function phenotype. Lifetime cancer risks consistent with BRCA1 average: breast ~60-70%, ovarian ~40-45%, contralateral breast ~50% by age 70 in carriers diagnosed at age 50. Same surveillance and risk-reduction protocols as other BRCA1 pathogenic variants (annual breast MRI from age 25-30, RRSO 35-40 after childbearing). STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.