Fig. 1
From: Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Distribution of pathogenic/likely pathogenic variants identified in eGT of 17,523 cancer patients across genes and cancer types. The distribution of P/LP variants identified in patients with each cancer type, grouped based on gene penetrance and inheritance pattern, is presented. The number of patients in each category is in parentheses. Specific variants that show different penetrance or inheritance pattern from typical variants in the gene were plotted separately: APC^: APC p.Ile1307Lys; CHEK2^: CHEK2 p.Ile157Thr; FH^: FH p.Lys477dup; and VHL^: VHL p.Arg200Trp. Percentage of high/moderate-penetrance (%H/M pen) variants identified in each cancer type and overall percentage of patients with P/LP variants (%Overall) are presented with 95% confidence intervals in parentheses