Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cell division cycle 73

CDC73 gene encodes a tumor suppressor. Mutations cause autosomal dominant parathyroid disorder including hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.

Genetests:

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

Related Diseases:

Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Parathyroid carcinoma
CDC73

References:

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 [^]
12.

OMIM.ORG article

Omim 607393 [^]
13.

Orphanet article

Orphanet ID 119271 [^]
14.

Wikipedia article

Wikipedia EN (CDC73) [^]
Update: April 29, 2019