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
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.