Figure 2. Diagnostic Process of Identified Cancer Predisposition Syndromes After Neoplasm Development.

A, Specific indicators that initiated referral for clinical genetic assessment in 42 patients for whom genetic predisposition was identified after they had developed a neoplasm. The total number of patients per indicator for referral are noted in the column labels. Each column corresponds to a specific combination, and bar charts on top show the number of patients per combination. The filled-in dots show which indicator for referral is part of a combination. The feature “child with 2 or more neoplasms” is defined as the presence of bilateral, multifocal, or metachronous primary neoplasms. B, Number of genetic tests that were performed per patient. C, Type of genetic tests that were performed. SNV, single-nucleotide variation; WES, whole-exome sequencing.

^aPart of the tumor diagnostic workup or precision medicine study.

^bIncluding a kidney tumor predisposition gene panel that was offered to all children with Wilms tumors as part of the WES-KidTs study.⁶