Seventeen variants identified as potentially oncogenic in 17.7 percent of South African male patients
By Elana Gotkine HealthDay Reporter
FRIDAY, March 24, 2023 (HealthDay News) — For men of African ancestry, currently utilized germline testing panels for prostate cancer have poor clinical utility, with clinical value in only 30 percent of current gene panels, according to a study published in the March issue of the Journal of the National Comprehensive Cancer Network.
Kazzem Gheybi, M.D., Ph.D., from The University of Sydney, and colleagues queried the 20 most common germline testing panel genes in 113 Black South African men, mainly presenting with advanced prostate cancer, through deep sequencing.
The researchers identified 39 predicted deleterious variants (16 genes); 17 variants (12 genes; 17.7 percent of patients) were classified as potentially oncogenic on further computational annotation. CHEK2 Arg95Ter, BRCA2 Trp31Arg, ATM Arg3047Ter (two patients), and TP53 Arg282Trp were identified as rare pathogenic variants. Novel BRCA2 Leu3038Ile was identified as an oncogenic variant of unknown pathogenicity in a patient with early-onset disease; a family history of prostate cancer was reported by patients with FANCA Arg504Cys and RAD51C Arg260Gln. Overall, 6.9 and 9.2 percent of patients presenting with a Gleason score ≥8 or ≥4 and three or more tumors, respectively, had rare pathogenic and early-onset or familial-associated oncogenic variants.
“This study opens the door to begin to establish new criteria, providing men of African ancestry with hope that germline testing can change current disparities in clinical outcomes,” Gheybi said in a statement.
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