Routine germline genetic testing in 3552 unselected NHS breast cancer patients: Evidence informing testing criteria and implementation of a 'BRCA-DIRECT' mainstreaming pathway
Bethany Torr, Lea Mansour, Caitlin T. Fierheller, Monica Hamill, Joshua J. Nolan, Nicola Bell, Subin Choi, Sophie Allen, Sudeekshna Muralidharan, Suzanne MacMahon, Yasmin Clinch, Mikel Valgañón, Helena Harder, Alice Garrett, D. Gareth Evans, , Clare Turnbull
This paper evaluates a streamlined germline genetic testing pathway for breast cancer patients, showing high satisfaction and feasibility while highlighting the need for simplified criteria to improve detection of pathogenic variants.
npj Breast Cancer · Jul 9, 2026Peer-reviewedGenetic & Genomic Medicine