biostudies-literatureUnknown9(29)Muscarella LAThe Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the <i>CDC73</i> gene: it has been suggested that early onset of the disease and high Ca²⁺ levels may predict the presence of a <i>CDC73</i> mutation. We searched for large deletions at the <i>CDC73</i> locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a <i>CDC73</i> gene mutation, clinical/histological diagnosis, age at onset, Ca²⁺, PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a <Oncotarget20721-20733https://www.ebi.ac.uk/biostudies/studies/S-EPMC5945533biostudies-literatureLarge deletion at the <i>CDC73</i> gene locus and search for predictive markers of the presence of a <i>CDC73</i> genetic lesion.PMC5945533la Torre ACopetti MFontana ACinque LPalumbo OScillitani AGuarnieri VBaorda FFranco Rde Martino DRepaci APagotto ULosito NSGraziano PChiofalo MGTurchetti DPezzullo LMuscarella LAfalseLarge deletion at the <i>CDC73</i> gene locus and search for predictive markers of the presence of a <i>CDC73</i> genetic lesion.The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the <i>CDC73</i> gene: it has been suggested that early onset of the disease and high Ca²⁺ levels may predict the presence of a <i>CDC73</i> mutation. We searched for large deletions at the <i>CDC73</i> locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a <i>CDC73</i> gene mutation, clinical/histological diagnosis, age at onset, Ca²⁺, PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a <2018-01-01T00:00:00Z2018 Apr2026-04-29T16:42:24.957Z2019-03-26T23:40:51ZS-EPMC59455332975568410.18632/oncotarget.25067