The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C5972T) mutations in bladder and kidney cancer patients from Poland. We genotyped 1028 patients with bladder cancer and 688 cases with kidney cancer and two control groups. A BRCA1 mutation (all variants combined) was detected in peripheral blood leukocytes in 5 out of 1028 (0.5%) bladder cases and in 17 of 4000 controls (0.4%) (odds ratio [OR], (OR = 1.1; 95% CI 0.42–3.11; p = 1.0). Among 688 unselected kidney cancer cases a BRCA1 mutations was reported in three patients (0.4%) (OR = 1.0; 95% CI 0.29–3.51; p = 1.0). The mutation C5972T in BRCA2 was observed in 54 bladder cancer patients (5.2%) and in 159 of 2791 healthy controls (5.7%) (OR = 0.9; 95% CI 0.66–1.26; p = 0.6). Fifty kidney cancer cases carried a BRCA2 mutation (7.3%) (OR = 1.3; 95% CI 0.93–1.80; p = 0.1). In conclusion, we found no difference in the prevalence of BRCA1 and BRCA2 founder mutations between cases and healthy controls. The mutations BRCA1 and BRCA2 seem not to play a role in bladder and kidney cancer development in Polish patients.

中文翻译：

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种系 BRCA1 和 BRCA2 突变以及波兰患膀胱癌或肾癌的风险

BRCA1 和 BRCA2 基因在膀胱和肾肿瘤发生中的作用尚不清楚。我们的目标是确定波兰膀胱癌和肾癌患者中特定创始人突变基因 BRCA1（5328 insC、C61G 和 4153 delA）和 BRCA2（C5972T）突变的流行率。我们对 1028 名膀胱癌患者和 688 名肾癌患者和两个对照组进行了基因分型。在 1028 例 (0.5%) 膀胱病例中的 5 例 (0.5%) 和 4000 例对照中的 17 例 (0.4%) 外周血白细胞中检测到 BRCA1 突变（所有变体组合）（优势比 [OR]，（OR = 1.1；95% CI 0.42–3.11；p = 1.0)。在 688 例未选择的肾癌病例中，3 例患者 (0.4%) 报告了 BRCA1 突变（OR = 1.0；95% CI 0.29–3.51；p = 1.0）。BRCA2 中的突变 C5972T 是在 54 名膀胱癌患者 (5.2%) 和 2791 名健康对照者中的 159 名 (5. 7%）（OR = 0.9；95% CI 0.66–1.26；p = 0.6）。50 例肾癌病例携带 BRCA2 突变 (7.3%) (OR = 1.3; 95% CI 0.93–1.80; p = 0.1)。总之，我们发现 BRCA1 和 BRCA2 创始人突变的患病率在病例和健康对照之间没有差异。BRCA1 和 BRCA2 突变似乎在波兰患者的膀胱癌和肾癌发展中不起作用。