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.
Carlo MI, Mukherjee S, Offit K. CHEK2 Alleles Predispose to Renal Cancer in Poland—In Reply. JAMA Oncol. Published online February 28, 20195(4):576–577. doi:10.1001/jamaoncol.2019.0025
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