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Fig. 3 | Genome Medicine

Fig. 3

From: Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

Fig. 3

Pathogenic/likely pathogenic variants identified in genes not associated with the patient’s cancer type. Genes were grouped based on inheritance pattern, and autosomal dominant genes were further grouped based on penetrance as high, moderate, low, and uncertain. In three genes, only specific variants were targeted: HOXB13 p.Gly84Glu, MITF p.Glu318Lys, and YAP1 p.Arg331Trp. Certain variants were considered as having different penetrance or inheritance pattern from typical variants in the gene: APC p.Ile1307Lys and CHEK2 p.Ile157Thr as having uncertain penetrance; FH p.Lys477dup, VHL p.Arg200Trp, and EGFR loss-of-function variants as being AR. The percentage of carriers within each cancer type is presented in the upper panels. The number of P/LP variants identified in each gene and cancer type are presented in the lower panels

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