Recent work investigating the cancer risk in a cohort of 123 individuals with heterozygous germline RECQL4 mutations showed that the prevalence of cancer was not increased in these patients but that patients with type II Rothmund–Thomson syndrome with biallelic REC mutations (including RECQL4) were specifically at increased risk of developing lymphomas and osteosarcomas [35]. The gene discussed is RECQL4; the disease is cancer.