HIGHLIGHTS
SUMMARY
In 1993, Kaufman et_al described the melanoma-astrocytoma syndrome, reporting on eight members of a family spread over three generations that developed cutaneous malignant melanoma and/or cerebral astrocytoma. One of the main candidates is CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A), situated on chromosome 9p21, because it is involved in neuroblastoma cell growth, while also representing a high penetrance susceptibility gene for familial cutaneous melanoma and sporadic multiple cutaneous melanoma syndromes. Box et_al studied 15 Australian melanoma pedigrees harboring CDKN2A mutations and discovered that families carrying MC1R "red hair color" variants had a CDKN2A . . .
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