TABLE 4 . Pathogenic or likely pathogenic variants and VUS
associated with phenotype.
Among the 9 patients in whom we identified pathogenic/likely pathogenic
or VUS likely associated with the phenotype, 8 (88.8%) met the tumor
type criteria. This finding aligns with previous studies highlighting
the significance of tumor type in the suspicion of a
CPS6,7.
Among the seven patients studied for tumor mutation, in two patients
(28.57%) such mutation was found to be germline. This was observed in
the patient with somatic variant in BAP1 and BCOR in tumor (both
germline and somatic mutations were identified in BAP1), and the patient
with exon deletion of FANCL in tumor (the same deletion was found in
germline by MLPA).