Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population

• Main Authors: Elżbieta Złowocka-Perłowska, Tadeusz Dębniak, Marcin Słojewski, Artur Lemiński, Michał Soczawa, Thierry van de Wetering, Joanna Trubicka, Wojciech Kluźniak, Dominika Wokołorczyk, Cezary Cybulski, Jan Lubiński
• Format: Article
• Language: English
• Published: BMC 2021-01-01
• Series: Hereditary Cancer in Clinical Practice
• Subjects: 509_510delGA, 172_175delTTGT mutation; PALB2; Survival
• Online Access: https://doi.org/10.1186/s13053-020-00161-y

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.