Clinical Significance of Germline Variants in the BRCA2 Gene and Their Association With Prostate Cancer Risk in Polish Men: A Case-Control Study
Abstract
Objectives Currently, prostate cancer (PC) is the most common medical problem endangering men’s health and life worldwide. We tested the association of detected germline variants in BRCA2 with PC risk and estimated their impact on the clinical course of the disease, including overall survival time, in Polish men with localized PC that qualified for radical prostatectomy (RP). Materials and Methods DNA of 97 PC patients from various age groups and with different disease stages was analyzed. Control DNA samples consisted of 100 male volunteers without PC that were age-matched to the study group. Next Generation Sequencing (NGS) and Sanger sequencing were used for variant detection. Results Five rare variants of the BRCA2 gene were detected in single PC patients. There were four substitutions (c.8010G>C, c.682-32A>G, c.9257-75G>C, c.516+17G>C) and one deletion (c.6393_6396del). Among the detected variants, one was pathogenic, one was a variant of uncertain significance (VUS), and three were likely benign. The c.8010G>C was a new variant. In the carrier of the c.6393_6396del pathogenic variant, PC was diagnosed at the T3 stage and the patient survived 48 months after PC confirmation (the date of biopsy). Conclusions The BRCA2 c.6393_6396del pathogenic variant demonstrates an association with clinical features of the disease (GS and TNM) and shorter survival of patients with localized prostate cancer that qualified for RP. Additionally, our findings suggest that multi-organ…
How strong is the evidence?
Evidence Hub reads this as a case-control, done in people. Its evidence level is 4 of 5 (Low · observational). Observational designs can show an association but not prove cause. Reported size: 100 participants or records.
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