CHEK2 and dermatofibrosarcoma protuberans: In this germline analysis of 3 large cohorts with linked exome or genome and electronic health records data, we identified an increased frequency of CHEK2 germline P/LP variants among individuals with DFSP, including 3 individuals with missense variant p.(Ile157Thr) and 1 individual with truncating variant p.(Thr367MetfsTer15).