Article
Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.
American journal of human genetics - 1 Oct 2001
van der Velden P A, Sandkuijl L A, Bergman W, Pavel S, van Mourik L, Frants R R, Gruis N A
Abstract excerpt
Germline mutations of the cell-cycle regulator p16 (also called "CDKN2A") in kindreds with melanoma implicate this gene in susceptibility to malignant melanoma. Most families with familial atypical multiple-mole melanoma (FAMMM) who are registered at the Leiden dermatology clinic share the same p16-inactivating deletion (p16-Leiden). Incomplete penetrance and variable clinical expression suggest risk modification...
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