Fig. 5

Cancer predisposition syndromes in TCGA. a Age of diagnosis for MMR germline:somatic alteration carriers and individuals carrying ClinVar pathogenic or LOF germline variation in BRCA1, BRCA2, TP53, SDHB, and RET. Age was converted to a Z-score using the mean and standard deviation age of diagnosis for each cancer type. The expected cancer types for each gene set are MMR, colon, uterine, and stomach; BRCA1/2, breast cancer; TP53, adrenal cortical carcinoma, glioma, glioblastoma, breast cancer, and sarcoma; and SDHB/RET, pheochromocytoma, and paraganglioma. All MMR germline:somatic alteration carriers have the expected cancer type. The number of individuals in each category is displayed in parentheses. b Age of diagnosis for individuals carrying ClinVar pathogenic or LOF germline variation in genes described in a (“known”) compared to a set of 75 other cancer predisposing genes (“possible”). **p < 0.001, *p < 0.05, p < 0.1. p values were determined using a linear model to predict age of onset while accounting for cancer type