# Implementation and audit of mainstream genetic testing within a high-volume UK breast unit for pathogenic variations associated with breast cancer using the R208 and R444.1 National Test Directory criterion

Source: https://onco.cc/key-papers/paper-conroy-nhs-r208-mainstream-testing-audit-breast-j-2026/  
OnCo record `paper-conroy-nhs-r208-mainstream-testing-audit-breast-j-2026` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Applying the NHS test directory rules at one large breast unit, 255 of 1,812 new patients were eligible, 196 were tested and 14% carried an inherited variant; the result changed surgery for 14 women and gave three a PARP inhibitor.

## Summary

Eligibility under the NHS National Genomic Test Directory R208 (mainstream breast cancer testing, published 2020) and R444.1 (PARP inhibitor eligibility) was assessed for every patient diagnosed with DCIS or invasive breast cancer between March 2021 and March 2025. Of 1,812 new diagnoses, 255 were eligible and 196 consented; 28 (14.3%) carried a pathogenic or likely pathogenic variant, eight eligible only on family history. Of 21 candidates for breast conservation, 13 had preoperative results and eight chose bilateral mastectomy; three women with a new BRCA variant received a PARP inhibitor. Eligibility assessment was time-consuming for trained clinicians.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: The Breast Journal
- Year: 2026
- DOI: 10.1155/tbj/2657384
- Authors: Conroy S, Keane E, Rehman B, et al.
- Findings: 255 of 1,812 eligible under R208/R444.1; 196 tested; 28 (14.3%) positive.; Eight carriers eligible only through family history scoring.; Surgical plan changed for 14 women; three received a PARP inhibitor.
- What it means: This is what the NHS R208 pathway yields in practice: a one-in-seven positive rate among the eligible, at the cost of clinician time spent on eligibility scoring.
- Caveats: Single unit; DCIS included.; The proportion of TNBC among those tested is not in the abstract.

## Sources

- Conroy et al., Breast J 2026: audit of mainstream genetic testing under the NHS R208 and R444.1 criteria: https://doi.org/10.1155/tbj/2657384
- PubMed: https://pubmed.ncbi.nlm.nih.gov/42504120/

## 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/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/)
- journals: [The breast journal](https://onco.cc/journals/the-breast-journal/)
- biomarkers: [Germline BRCA1/2 pathogenic variant (gBRCAm)](https://onco.cc/biomarkers/brca-germline/)

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