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Comment & Response
February 28, 2019

CHEK2 Alleles Predispose to Renal Cancer in Poland—In Reply

Author Affiliations
  • 1Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York
  • 2Sloan Kettering Institute, New York, New York
JAMA Oncol. 2019;5(4):576-577. doi:10.1001/jamaoncol.2019.0025

In Reply The 2.0 to 2.5 odds ratio for renal cancer for different CHEK2 variants reported by Zlowocka-Perlowska and colleagues in their letter closely approximates our pooled analysis that showed an odds ratio of 3.0 (95% CI, 1.3-5.8).1 Of note, Zlowocka-Perlowska et al have found a single CHEK2 founder mutation (I157T) in a striking 9.3% of renal cancer cases in Poland thus far, but they describe the risk for this mutation as being similar to other truncating CHEK2 mutations. With tumor-normal genotyping now being conducted across multiple cancer types to guide preventive care and target therapies,2 population-specific variant–level analysis such as the analysis performed by Zlowocka-Perlowska et al will facilitate more precise cancer risk estimates.

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