# The impact of expanded access to germline high penetrance genetic testing for women with a new diagnosis of invasive breast cancer or high-grade DCIS

Source: https://onco.cc/key-papers/paper-hudson-phillips-expanded-germline-testing-clin-breast-cancer-2026/  
OnCo record `paper-hudson-phillips-expanded-germline-testing-clin-breast-cancer-2026` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Clinical Breast Cancer
- Year: 2026
- DOI: 10.1016/j.clbc.2026.07.031
- Authors: Hudson-Phillips SP, Nanda A, Attia M, et al.
- Findings: Pathogenic variant in 3.6% of 576 unselected new diagnoses: BRCA1 1.9%, BRCA2 1.0%, PALB2 0.7%.; 23.8% of carriers would not have met R208 criteria.; Preoperative results changed the initial operation (P .002).
- What it means: 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.
- Caveats: Single-centre programme at the Royal Marsden; 3.6% is an all-subtype figure, not TNBC-specific.; Uptake and cost data are outside the abstract.

## Sources

- Hudson-Phillips et al., Clin Breast Cancer 2026: expanded germline high-penetrance testing in 576 newly diagnosed patients: https://doi.org/10.1016/j.clbc.2026.07.031
- PubMed: https://pubmed.ncbi.nlm.nih.gov/42659730/

## Connected records

- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/), [PALB2](https://onco.cc/targets/palb2/)
- institutions: [The Royal Marsden](https://onco.cc/institutions/royal-marsden/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/)
- journals: [Clinical breast cancer](https://onco.cc/journals/clinical-breast-cancer/)

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