Figure 2 from The Role of Germline Transposable Element Insertions in Pediatric Cancer Predisposition
Year: 2026
Type: other
Abstract: A, Filtering of TE insertions by cancer-subtype gene sets. Two disease-specific gene sets (hematologic malignancies; solid tumors) were used to classify insertions of interest according to each patient’s cancer subtype; donut charts depict the genic annotation distribution of relevant TE insertions. B, Comparison of TE insertion rates in cancer genes overall (left) and restricted to 3′ UTR insertions (right), limited to variants with cohort AF < 0.01; the solid tumor cohort shows a significantly increased insertion rate compared with a population-matched control set (Poisson rate test, BH-corrected). C, Nineteen TE insertions identified in genes with dominant inheritance and established associations with cancer predisposition. These constitute the highest-confidence TE insertion calls with potential pathogenic relevance. Insertions marked with (*) are considered cancer-concordant based on preliminary evidence. **The patient with WT and a DIS3L2 intronic TE insertion was also diagnosed with Beckwith–Wiedemann Syndrome. AML, acute myeloid leukemia; GCT, germ cell tumor; HCC, hepatocellular carcinoma; NB, neuroblastoma; SC-GCT, sacrococcygeal germ cell tumor; WT, Wilms tumor.
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W7213970950
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