{"entity":{"id":"paper-hudson-phillips-expanded-germline-testing-clin-breast-cancer-2026","kind":"paper","name":"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","aka":[],"tldr":"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.","asOf":"2026-09-24","links":[{"label":"Hudson-Phillips et al., Clin Breast Cancer 2026: expanded germline high-penetrance testing in 576 newly diagnosed patients","url":"https://doi.org/10.1016/j.clbc.2026.07.031"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/42659730/"}],"tags":[],"related":[],"cancers":["tnbc","breast-cancer"],"sections":[],"technologies":["germline-testing"],"targets":["brca","palb2"],"drugs":[],"companies":[],"institutions":["royal-marsden"],"pathways":[],"terms":["gbrca-mutation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["clinical-breast-cancer"],"dependsOn":[],"notes":[],"journal":"Clinical Breast Cancer","year":2026,"doi":"10.1016/j.clbc.2026.07.031","pmid":"42659730","authors":"Hudson-Phillips SP, Nanda A, Attia M, et al.","paperType":"real-world","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)."],"whatItMeans":"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."],"changedPractice":false,"participants":576},"route":"/key-papers/paper-hudson-phillips-expanded-germline-testing-clin-breast-cancer-2026/","neighbours":{"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"},{"id":"palb2","kind":"target","name":"PALB2","route":"/targets/palb2/"}],"institution":[{"id":"royal-marsden","kind":"institution","name":"The Royal Marsden","route":"/institutions/royal-marsden/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"}],"journal":[{"id":"clinical-breast-cancer","kind":"journal","name":"Clinical breast cancer","route":"/journals/clinical-breast-cancer/"}]}}