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Melanoma
• Melanomas arise from melanocytes, which are pigment producing
cells.
• Melanomas occur most often in the skin, but can arise from other
areas such as eye (retinal), vagina, anal, mouth (mucosal), and
sometimes when no primary (site of origin) can be found.
• Several inherited melanoma syndromes have been identified.
• FAMMM ( Familial atypical Mole and Melanoma) also
call the “Dysplastic Nevus syndrome”, is the clustering of
melanomas in successive generations.
• The syndrome is associated with the CDK2NA gene that
produces the p16 protein.
• The National Cancer Institute defines the disorder as 1)
one or more first or second degree relatives with
malignant melanoma, 2) many moles, some of which are
atypical and often different sizes and 3) moles that have
specific features when examined under a microscope.
• FAMMM is also considered when there are pancreatic
cancers families with melanomas.
• Other melanoma associated conditions:
a) BRCA2
b) Melanoma/Astrocytoma syndrome
c) Melanocorin-1
d) Xeroderma Pigmentosum
e) others
• If you would like to know more about Melanoma
associated family syndromes contact the Illinois Cancer
Care Genetics Clinic.
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