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CDKN2A

From SNPedia

is agene
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Full namecyclin-dependent kinase inhibitor 2A
EntrezGene1029
PheGenI1029
VariationViewer1029
ClinVarCDKN2A
dbSNP1029
SADR1029
HugeNav1029
wikipediaCDKN2A
googleCDKN2A
gopubmedCDKN2A
EVSCDKN2A
HEFalMpCDKN2A
MyGene2CDKN2A
23andMeCDKN2A
UniProtQ8N726
EnsemblENSG00000147889
OMIM600160
# SNPs42
 Max MagnitudeChromosome positionSummary
rs104894094021,971,058
rs104894095021,971,200
rs104894097521,974,757
rs104894098021,970,982
rs104894099021,971,183
rs104894104021,971,019
rs104894109021,971,192
rs113798404021,970,995
rs1151521,968,200
rs12191338821,971,121
rs13785459721,971,094
rs137854598021,971,054
rs13785459921,971,093
rs1800586521,974,861
rs281171021,991,924
rs308844021,968,160
rs36204594021,971,180
rs372670098021,971,153
rs373120121,988,897
rs373121121,986,848
rs373121721,984,662
rs3731239021,974,219
rs3731245021,972,446
rs3731249021,970,917
rs398123152021,974,721
rs45476696021,970,902
rs587776716521,971,115
rs587778189021,974,679
rs587780668021,974,795
rs587782206021,974,778
rs606231175521,974,819
rs730881672021,974,781
rs730881673521,974,696
rs730881674021,971,116
rs730881675021,971,106
rs730881677021,971,209
rs746834149521,974,724
rs751570838521,974,796
rs768966657621,971,021
rs777948908521,974,722
rs786204195021,974,686
rs864622636021,974,680

CDKN2A, also known as cyclin-dependent kinase Inhibitor 2A, is a gene on chromosome 9. The gene codes for two proteins, both acting as tumor suppressors.

Somatic mutations of CDKN2A are common in the majority of human cancers, with estimates that CDKN2a is the second most commonly inactivated gene in cancerous tissues after p53. Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer.Wikipedia

The degree to which risk for melanoma is increased due to a CDKN2A mutation considered pathogenic is unclear. As stated in [PMID 20831418OA-icon.png], published penetrance estimates through age 80 for CDKN2A mutations range as high as 67% [PMID 12072543OA-icon.png]. Researchers in the GEM Study estimated the risk for melanoma among CDKN2A mutation carriers to be 28% through age 80 [PMID 16234564OA-icon.png]. The authors of the previously cited paper ultimately settled on telling participants in their study that CDKN2A mutations conferred an overall 30–65% risk for melanoma by age 80 and could also increase the risk of a new primary melanoma.