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Malignant Melanoma CDKN2A

 

OMIM

Cyclin-dependent kinase inhibitor 2A, (CDKN2A, p16) also known as multiple tumor suppressor 1 (MTS-1), is a tumor suppressor protein, that in humans is encoded by the CDKN2A gene. P16 plays an important role in regulating the cell cycle. Mutations in p16 increase the risk of developing a variety of cancers. Studies have shown mutations in CDKN2A contribute to 10-39% of hereditary form of malignant melanoma. Other studies have also shown an increased risk for pancreatic cancer in families with a CDKN2A mutation.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Sequencing Requisition

CPT Code: 81404 Cost: $620.00

Turn-around-time: 3-4 weeks

Specimen Requirements

Shipping Information

References

1. Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarra, G., and 41 others. (2009)  “Genome-wide association study identifies three loci associated with melanoma risk”. Nature Genet. 41: 920-925.

2. Cust, A. E., Harland, M., Makalic, E., Schmidt, D., Dowty, J. G., Aitken, J. F., Agha-Hamilton, C., Armstrong, B. K., Barrett, J. H., Chan, M., Chang, Y.-M., Gascoyne, J., and 14 others. (2011) “Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK”. J. Med. Genet. 48: 266-272.

3. Fountain, J. W., Bale, S. J., Housman, D. E., Dracopoli, N. C. (1990) “Genetics of melanoma”. Cancer Surv. 9: 645-671.



 

 

 


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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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