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References OMIM Gene GeneReviews HGMD HGNC
last update : 13/09/2006
Symbol CMM2
Location 9p21.3
Name hereditary malignant melanoma
Corresponding gene CDKN2A
Other symbol(s) MLM2
Main clinical features familial melanoma, early age at diagnosis, multiple primary melanomas or pancreatic cancer
Genetic determination
Related entries TSG9A
Function/system disorder dermatology
Type susceptibility factor
Gene product
Name CDKN2A codes for two distinct proteins, p16(INK4a) and p14(ARF), which act as tumor suppressors. Gene transcripts analysis should be considered in high-risk families with no mutation identified.
Gene mutationChromosome rearrangementEffectComments
various types     most recurrent mutations result from single mutational events; the mutation rate is 20 percent on average (5-50)
Remark(s) mutational events can cause loss of function of either or both proteins , so that each may contribute to the development of different types of cancer
Genotype/Phenotype correlations inherited mutations in CDKN2A may be associated with other, non-melanoma cancers including pancreatic cancer (FAMMMPC) and neural system tumors (MNST)