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CDKN2A-mutation in a family with hereditary malignant melanoma

Djursby, M.; Wadt, K.; Lorentzen, H.; Borg, A.; Gerdes, A.-M.; Krogh, L.

Ugeskrift for Laeger 176(40)

2014

ISSN/ISBN: 1603-6824
PMID: 25294512
Document Number: 675748
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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