Rashid et al. assessed the prevalence of CHEK2 germline mutations in 145 BRCA1/2-negative breast cancer patients from Pakistan and found a low frequency (1.4%) of two potentially deleterious missense mutations, c.275C>G (p.P92R) and c.1216C>T (p.R406C) in women aged <40 years [146]. The gene discussed is BRCA1; the disease is breast cancer.