Article
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Nature communications - 2 Oct 2025
Gheybi Kazzem, Soh Pamela X Y, Jiang Jue, Mbeki Tumisang M N, Louw Melanie, Burns Daniel, Mundra Piyushkumar, Kiriy Daria, Hasan Md Mehedi, Jaratlerdsiri Weerachai, Lebelo Maphuti Tebogo, Campbell Raymond A, Radzuma Mulalo B, Nenzhelele Mukudeni, Obida Muvhulawa, Obida Martin, Ombuki Winstar M, Oyaro Micah O, Patrick Sean M, Loda Massimo, Wedge David C, Bristow Robert G, Brewer Daniel S, Cooper Colin S, Reimand Jüri, Cancel-Tassin Geraldine, Cussenot Olivier, Hovens Chris M, Cocoran Niall M, Stricker Phillip D, Schlomm Thorsten, Prins Gail S, Sørensen Karina Dalsgaard, Weischenfeldt Joachim, Mutambirwa Shingai B A, Ngugi Peter M, Thomas David M, Kote-Jarai Zsofia, Eeles Rosalind A, Bornman M S Riana, Hayes Vanessa M
Abstract excerpt
Prostate cancer (PCa) germline testing, while gaining momentum, is ancestry restrictive and African exclusive. Through whole genome sequencing for 217 African ancestral cases (186 southern African, 31 Pan representative), we identify 172 potentially pathogenic variants in 78 DNA damage repair or PCa related genes. Prevalence for reported (13/217, 5.99%) and cumulative predicted (24/217, 11.06%) variants of...
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