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Offering high-penetrance gene testing to 576 newly diagnosed women regardless of the NHS criteria found an inherited variant in 3.6%, a quarter of whom would have been ineligible, and results in hand before surgery changed the operation chosen.
Women over 18 with invasive breast cancer or high-grade DCIS and no prior BRCA testing were offered high-penetrance germline testing. Of 576 patients, median turnaround was 33 days; 21 (3.6%) carried a germline pathogenic variant (11 BRCA1, 1.9%; 6 BRCA2, 1.0%; 4 PALB2, 0.7%), five of whom (23.8%) would not have been eligible on the NHS R208 pathway. 480 (83.3%) had primary surgery; 121 (25.2%) had results preoperatively, which significantly influenced the initial procedure (P .002); risk-reducing surgery uptake was 100% with a preoperative result versus 71.4% after.
An argument for universal rather than criteria-based germline testing at diagnosis, with turnaround fast enough to inform surgery; for TNBC patients, who are already eligible, the lesson is timing.
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Breast cancer (all types), Triple-negative breast cancer (TNBC).
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).