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CDKN2A-mutation hos en familie med arveligt malignt melanom

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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.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer40
Sider (fra-til)2-3
Antal sider2
ISSN0041-5782
StatusUdgivet - 29 sep. 2014

ID: 137379405