The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening

作者：Sarah Benafif, Holly Ní Raghallaigh, Eva McGrowder, Edward J. Saunders, Mark N. Brook, Sibel Saya, Reshma Rageevakumar, Sarah Wakerell, Denzil James, Anthony Chamberlain, Natalie Taylor, Matthew Hogben, Barbara Benton, Lucia D’Mello, Kathryn Myhill, Christos Mikropoulos, Hywel Bowen‐Perkins, Imran Rafi, Michelle Ferris, Andre Beattie, Shophia Kuganolipava, Tamsin Sevenoaks, Juliet Bower, Pardeep Kumar, Steven Hazell, Nandita M. deSouza, Antonis C. Antoniou, Elizabeth Bancroft, Zsofia Kote‐Jarai, Rosalind A. Eeles · 发表于：British Journal of Urology · 年份：2021 · DOI：10.1111/bju.15535 · 被引用次数：40 · 研究领域：Prostate Cancer Diagnosis and Treatment、Prostate Cancer Treatment and Research、Male Breast Health Studies

OBJECTIVES: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by men invited for screening. The uptake of the pilot study would guide the opening of the larger BARCODE1 study recruiting 5000 men. SUBJECTS AND METHODS: Healthy males aged 55-69 years were invited to participate via their general practitioners (GPs). Saliva samples were collected via mailed collection kits. After DNA extraction, genotyping was conducted using a study specific assay. Genetic risk was based on genotyping 130 germline PCa risk single nucleotide polymorphisms (SNPs). A polygenic risk score (PRS) was calculated for each participant using the sum of weighted alleles for 130 SNPs. Study participants with a PRS lying above the 90th centile value were invited for PCa screening by prostate magnetic resonance imaging (MRI) and biopsy. RESULTS: Invitation letters were sent to 1434 men. The overall study uptake was 26% (375/1436) and 87% of responders were eligible for study entry. DNA genotyping data were available for 297 men and 25 were invited for screening. After exclusions due to medical comorbidity/invitations declined, 18 of 25 men (72%) underwent MRI and biopsy of the prostate. There were seven diagnoses of PCa (38.9%). All cancers were low-risk and were managed with active surveillance. CONCLUSION: The BARCODE1 Pilot has shown this community st...