1. Novel PRUNE2 Germline Mutations in Aggressive and Benign Parathyroid Neoplasms
- Author
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Sara Storvall, Eeva Ryhänen, Auli Karhu, and Camilla Schalin-Jäntti
- Subjects
Cancer Research ,Oncology ,PRUNE2 ,whole-exome sequencing ,primary hyperparathyroidism ,parathyroid carcinoma ,mutation ,germline - Abstract
Parathyroid tumors are mostly sporadic but can also occur in familial forms, including different kinds of genetic syndromes with varying phenotypes and penetrance. Recently, somatic mutations of the tumor suppressor gene PRUNE2 were found to be frequent in parathyroid cancer (PC). The germline mutation status of PRUNE2 was investigated in a large cohort of patients with parathyroid tumors from the genetically homogenous Finnish population, 15 of which had PC, 16 atypical parathyroid tumors (APT), and 6 benign parathyroid adenomas (PA). Mutations in previously established hyperparathyroidism-related genes were screened with a targeted gene panel analysis. Nine PRUNE2 germline mutations with a minor allele frequency (MAF) of
- Published
- 2023
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