Germline Shelterin Loss of Function Predisposes to Lipoma and Uterine Leiomyoma: Population Evidence Bearing on Shelterin-Associated Sarcoma Risk

Purpose Germline shelterin variants were linked to sarcoma in a case-enriched cohort. Whether shelterin loss of function predisposes to mesenchymal neoplasia in the general population is unknown. Methods We analyzed rare-variant collapsing associations for five shelterin genes across neoplasm phenotypes in UK Biobank exomes, with Genebass as a second pipeline. Prespecified shelterin and centrosome gene sets were tested by permutation-calibrated statistics against a TP53/RB1/NF1 positive control. Carrier risks were compared with telomere-lengthening predictions. Results Lipoma risk was increase

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