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CDKN2A
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Interpretation 403
Tier 2
CDKN2A
Variants
CDKN2A V126D
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

CDKN2A gene functions as an important tumor suppressor via induction of cell growth arrest and senescence. Majority of the CDKN2A mutations result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. CDKN2A is a major high-risk susceptibility gene identified in melanoma. Somatic mutations of CDKN2A are reported in up to 19% and 20% of cutaneous and desmoplastic melanomas, respectively. Germline mutations have been reported in ~20-40% of families with melanoma. CDKN2A V126D mutation has been reported in numerous cases of familial melanoma and shown to be a loss-of-function mutation with reduced CDK4 binding. Correlation with other clinical and lab findings is necessary.

Citations
  1. Hodis E, et al. A landscape of driver mutations in melanoma. Cell 2012;150(2):251-63
  2. Hill VK, et al. The genetics of melanoma: recent advances. Annu Rev Genomics Hum Genet 2013;14():257-79
  3. Shain AH, et al. Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway. Nat Genet 2015;47(10):1194-9
  4. Goldstein AM, et al. A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. Br J Cancer 2001;85(4):527-30
  5. Parry D, et al. Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. Mol Cell Biol 1996;16(7):3844-52
Last updated: 2017-04-10 19:10:58 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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