hereditary malignant melanoma
Main clinical features
familial melanoma, early age at diagnosis, multiple primary melanomas or pancreatic cancer
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.
most recurrent mutations result from single mutational events; the mutation rate is 20 percent on average (5-50)
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
inherited mutations in CDKN2A may be associated with other, non-melanoma cancers including pancreatic cancer (FAMMMPC) and neural system tumors (MNST)