Germline mutations in the CHEK2 gene and their association with cancer development were originally described in 1999 (a year after its discovery) by Bell and colleagues [19], who identified the most studied population-specific CHEK2 variants c.1100delC and p.I157T in predominantly breast cancer patients from p53-wild type Li-Fraumeni syndrome (LFS) and LFS-like (LFL) families. The gene discussed is CHEK2; the disease is breast carcinoma.