Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
CDC73 gene encodes a tumor suppressor. Mutations cause autosomal dominant parathyroid disorder including hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Shattuck TM et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 
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| 2. |
Carpten JD et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
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| 3. |
Howell VM et al. (2003) HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
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| 4. |
Simonds WF et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
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| 5. |
Cavaco BM et al. (2004) Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.
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| 6. |
Cetani F et al. (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
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| 7. |
Moon SD et al. (2005) A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.
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| 8. |
Rozenblatt-Rosen O et al. (2005) The parafibromin tumor suppressor protein is part of a human Paf1 complex.
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| 9. |
Mosimann C et al. (2006) Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo.
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| 10. |
Guarnieri V et al. (2006) Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.
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| 11. |
NCBI article NCBI 79577
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| 12. |
OMIM.ORG article Omim 607393
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| 13. |
Orphanet article Orphanet ID 119271
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| 14. |
Wikipedia article Wikipedia EN (CDC73)
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