Research Papers:

Bladder cancer survival in patients with NOD2 or CDKN2A variants

Elżbieta Złowocka-Perłowska _, Thierry van de Wetering, Aleksandra Tołoczko-Grabarek, Rodney J. Scott and Jan Lubiński

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Oncotarget. 2022; 13:628-640. https://doi.org/10.18632/oncotarget.28226

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Elżbieta Złowocka-Perłowska1,*, Thierry van de Wetering2,*, Aleksandra Tołoczko-Grabarek1,*, Rodney J. Scott3,4,* and Jan Lubiński1,*

1 Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland

2 Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland

3 School of Biomedical Sciences and Pharmacy, Centre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, NSW 2305, Australia

4 Division of Molecular Medicine, Pathology North, NSW Pathology, Newcastle, NSW 2305, Australia

* These authors contributed equally to this work

Correspondence to:

Elżbieta Złowocka-Perłowska, email: [email protected]

Keywords: bladder cancer; kidney cancer; NOD2; CDKN2A; survival

Received: February 15, 2022     Accepted: April 12, 2022     Published: April 22, 2022

Copyright: © 2022 Złowocka-Perłowska et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Purpose: The association between the NOD2 c.3020insC allele and CDKN2A missense variant c.442G>A (p.P.A148T) and survival of patients with bladder or kidney cancer remains controversial.

Materials and Methods: We compared the allele frequencies of NOD2 c.3020insC and CDKN2A p.A148T allele in 706 patients with bladder cancer, 410 cases with kidney cancer against two control groups. The Cox proportional hazards model was used to determine whether there were any survival differences between carriers of the NOD2 c.3020insC or the CDKN2A p.A148T variant.

Results: Among the three patient subgroups: patients under 60 years of age, non-smokers and a third with histological features of low grade noninvasive papillary bladder cancer, we observed that the c.3020insC allele had a nominal statistically significant effect on survival. We also observed that the NOD2 c.3020insC variant was more frequent in patients with bladder cancer aged between 51 and 60 years.

There was some nominal evidence that the CDKN2A p.A148T polymorphism reduced survival in the subgroup of bladder cancer patients under 60 years of age. We observed that in kidney cancer patients, the incidence of the NOD2 variant appeared to be lower in the group aged between 60 and 70 years, however, this was not statistically significant. In addition, in patients with histological features of grade III chromophobic kidney cancer, the c.3020insC allele also appeared to be over-represented but this too was not statistically significant.

Conclusion: We have shown that the NOD2 c.3020insC allele and the CDKN2A p.A148T polymorphism does not play a role in the survival of patients with bladder cancer.

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