Cancer incidence and patterns in individuals with pathogenic or likely pathogenic germline TP53 variants

An observational cohort study at the National Cancer Institute found that individuals with Li-Fraumeni syndrome had a nearly 24 times higher incidence of any cancer than the general population (SIR 23.9; 95% CI 21.9-26.0), with the highest comparative incidence from childhood to 30 years of age. The overall cancer incidence remained 10.3 (95% CI 7.9-13.2) times higher than that of the general population after age 50 years. In women, when considering breast cancer as a competing risk, the probability of a first diagnosis of a non-breast cancer malignancy was substantially lower than that of any first cancer (24.4% versus 50.4% by age 33.7 years).