Zellteilungszyklus Gen CDC73
Das CDC73-Gen kodiert einen Tumorsupressor. Mutationen führen zu verschiedenen autosomal dominant vererbten Erkrankungen der nebenschilddrüse, wie Hyperparathyroidismus und Karzinome.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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.
|
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
|
12. |
OMIM.ORG article
Omim 607393
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13. |
Orphanet article
Orphanet ID 119271
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Update: 14. August 2020