Genetic Variants Identified
Out of the 50 patients, in 3 (6%), pathogenic or likely pathogenic genetic variants that could explain their phenotype were found. In 6 patients (12%) we identified a VUS, which after reviewing the published data on the variant/gene and the patient’s clinical history, we found that the variant could be related to the patient’s phenotype (Fig. 3, Table 4). Overall, variants potentially associated with cancer development were identified in 18% of the studied patients.