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.