Fig 1.
Study design and testing strategy.
ACMG indicates American College of Medical Genetics and Genomics. Component cancers represent malignancies observed in PHTS patients.
Table 1.
Demographic and clinical characteristics of 87 PTEN wildtype Cowden/Cowden-like syndrome and Bannayan-Riley-Ruvalcaba syndrome patients.
Table 2.
Germline variants and copy number variation (CNVs) identified and associated syndromes.
Table 3.
Clinicopathological characteristics of patients with identified germline alterations.
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.