Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations
Fig 2
Comparison of pathogenic and likely pathogenic germline variant spectra and frequencies in CS/CS-like/BRRS patients and TCGA apparently sporadic component cancer patients.
Solid-filled bars represent identified variant positive CS/CS-like and BRRS patients. Striped bars represent TCGA cancer patients with different colors indicating different cancer types. TCGA cancer types were selected because each is a PHTS component cancer. Abbreviations: CS, Cowden syndrome; BRRS, Bannayan-Riley-Ruvalcaba syndrome; OR, odds ratio; CI, confidence interval.