Fig. 3 | npj Genomic Medicine

Fig. 3

From: Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas

Fig. 3

“Somatic-like” germline (SLG) variants are enriched for genes associated with autosomal dominant cancer-predisposition syndromes (AD genes). a Variants predicted as somatic by TOBI include 22,048 variants not reported as somatic in published analysis of 1327 cases from five adult cancer types and pediatric glioma, with significant enrichment for AD genes in all FP variants and the subset of nonsynonymous variants with germline allele frequency greater than 30%. p-value from Poisson cumulative distribution. b Distribution of patient cases with FP variants in AD genes. Cancer abbreviations and color consistent with Figs. 1 and 2. c FP variants in TP53 domains. Height of line represents allele frequency, with normal frequency at the blue point and tumor frequency in black. Circles indicate patients where normal frequency of variant is greater than or equal to 30%; diamonds indicate normal frequency less than 30%. Color of variant name corresponds to cancer color in b. “<” indicates P71L and P72A occurred in same LUAD patient. “R273C (2)” indicates two patients with LGG had this variant. Colored “+” or “^” indicate individual patient allele frequencies

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