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Survival of bladder or renal cancer in patients with CHEK2 mutations.

Elżbieta Złowocka-PerłowskaTadeusz DębniakMarcin SłojewskiThierry van de WeteringAleksandra Tołoczko-GrabarekCezary CybulskiRodney J ScottJan Lubiński
Published in: PloS one (2021)
CHEK2 mutations were not associated with any change in bladder or kidney cancer survival regardless of their age, sex, smoking status and family history. We observed a potentially protective effect of CHEK2 mutations on survival for patients with stage T1 bladder cancer. CHEK2 missense mutations were more common among patients with low grade invasive bladder cancer and in patients with stage Ta diease. The frequencies of the I157T CHEK2 pathogenic variant were less in patients with high grade invasive bladder cancer and those with stage T1 disease. Among patients with bladder cancer with stage Ta disease, the OR for any mutation in CHEK2 was 2.0 but for those with stage T1 disease, the OR was 0.3. We observed truncating CHEK2 mutations were associated with kidney cancer patients with GII clear cell carcinoma.
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