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Updated: Apr 22, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
[CDKN2A-mutation in a family with hereditary malignant melanoma]
Malene Djursby, Karin Wadt1, Henrik Lorentzen
1Klinisk Genetisk Afdeling, Rigshospitalet, Blegdamsvej 9, 2100 København Ø.
Abstract:
Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. tvWe present a family with 24 cases of MM in nine persons from several generations, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing high-risk persons in the family are located and offered regular screening for MM.
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