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GENATLAS PHENOTYPE

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
	neoplasia
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.

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
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)