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

• Published in: Hereditary cancer in clinical practice Vol. 19; no. 1; pp. 6 - 5
• Main Authors: Złowocka-Perłowska, Elżbieta, Dębniak, Tadeusz, Słojewski, Marcin, Lemiński, Artur, Soczawa, Michał, van de Wetering, Thierry, Trubicka, Joanna, Kluźniak, Wojciech, Wokołorczyk, Dominika, Cybulski, Cezary, Lubiński, Jan
• Format: Journal Article
• Language: English
• Published: Poland BioMed Central Ltd 08.01.2021; BioMed Central; BMC
• Subjects: 509_510delGA, 172_175delTTGT mutation; Age; Anemia; Bladder cancer; Cancer; Carcinogenesis; Deoxyribonucleic acid; DNA; DNA damage; DNA repair; Family medical history; Gene mutations; Genes; Genetic aspects; Kidney cancer; Kidneys; Medical diagnosis; Mutation; Oncology, Experimental; Ovaries; PALB2; Patients; Population; Proteins; Risk factors; Smoking; Survival; Survival analysis; Poland; 509_510delGA, 172_175delTTGT mutation; PALB2; Survival
• ISSN: 1731-2302; 1897-4287; 1897-4287
• DOI: 10.1186/s13053-020-00161-y

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. 1413 patients with bladder and 810 cases with kidney cancer and 4702 controls were genotyped for two PALB2 variants: 509_510delGA and 172_175delTTGT. 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. 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.