{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Storvall S"],"funding":["Helsinki University Hospital","Finska Läkaresällskapet"],"pagination":["1405"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10000765"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(5)"],"pubmed_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 <i>PRUNE2</i> were found to be frequent in parathyroid cancer (PC). The germline mutation status of <i>PRUNE2</i> 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 <i>PRUNE2</i> germline mutations with a minor allele frequency (MAF) of <0.05 were found in our cohort. Five of these "],"journal":["Cancers"],"pubmed_title":["Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms."],"pmcid":["PMC10000765"],"funding_grant_id":["n/a","TYH2019254"],"pubmed_authors":["Schalin-Jantti C","Storvall S","Ryhanen E","Karhu A"],"additional_accession":[]},"is_claimable":false,"name":"Novel <i>PRUNE2</i> Germline Mutations in Aggressive and Benign Parathyroid Neoplasms.","description":"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 <i>PRUNE2</i> were found to be frequent in parathyroid cancer (PC). The germline mutation status of <i>PRUNE2</i> 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 <i>PRUNE2</i> germline mutations with a minor allele frequency (MAF) of <0.05 were found in our cohort. Five of these ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-04T03:41:46.169Z","creation":"2025-04-04T03:41:46.169Z"},"accession":"S-EPMC10000765","cross_references":{"pubmed":["36900197"],"doi":["10.3390/cancers15051405"]}}