Introduction The role of PALB2 in carcinogenesis remains to be clarified. Our main goal was to determine the prevalence of PALB2 (509_510delGA and 172_175delTTGT) mutations in bladder and kidney cancer patients from Polish population. Materials and methods 1413 patients with bladder and 810 cases with kidney cancer and 4702 controls were genotyped for two PALB2 variants: 509_510delGA and 172_175delTTGT. Results Two mutations of PALB2 gene were detected in 5 of 1413 (0.35%) unselected bladder cases and in 10 of 4702 controls (odds ratio [OR], 1.7; 95% CI 0.56–4.88; p = 0.52). Among 810 unselected kidney cancer cases two PALB2 mutations were reported in two patients (0,24%) (odds ratio [OR], (OR = 1.2; 95% CI 0.25–5.13; p = 0.84). In cases with mutations in PALB2 gene cancer family history was negative. Conclusion We found no difference in the prevalence of recurrent PALB2 mutations between cases and healthy controls. The mutations in PALB2 gene seem not to play a major role in bladder and kidney cancer development in Polish patients.

中文翻译：

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波兰人群中复发性 PALB2 突变和膀胱癌或肾癌的风险

介绍 PALB2 在致癌作用中的作用仍有待阐明。我们的主要目标是确定波兰人群膀胱癌和肾癌患者中 PALB2（509_510delGA 和 172_175delTTGT）突变的流行率。材料和方法 对 1413 名膀胱癌患者和 810 名肾癌患者和 4702 名对照者进行了两种 PALB2 变体：509_510delGA 和 172_175delTTGT 的基因分型。结果 在 1413 例未选择膀胱病例中的 5 例 (0.35%) 和 4702 例对照病例中的 10 例中检测到 PALB2 基因的两个突变（优势比 [OR]，1.7；95% CI 0.56–4.88；p = 0.52）。在 810 例未选择的肾癌病例中，两名患者 (0.24%) 报告了两个 PALB2 突变（比值比 [OR]，（OR = 1.2；95% CI 0.25–5.13；p = 0.84）。在 PALB2 突变的病例中基因癌症家族史为阴性。结论 我们发现病例和健康对照之间复发性 PALB2 突变的流行率没有差异。PALB2 基因的突变似乎在波兰患者的膀胱癌和肾癌发展中起主要作用。