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CDKN2A-mutation hos en familie med arveligt malignt melanom

Djursby, Malene ; Wadt, Karin A W ; Lorentzen, Henrik ; Borg, Ake LU ; Gerdes, Anne-Marie and Krogh, Lotte (2014) In Ugeskrift for Laeger 176(40).
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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author
; ; ; ; and
organization
alternative title
CDKN2A-mutation in a family with hereditary malignant melanoma
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Cyclin-Dependent Kinase Inhibitor p18/genetics, Family, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Melanoma/genetics, Middle Aged, Mutation, Skin Neoplasms/genetics
in
Ugeskrift for Laeger
volume
176
issue
40
publisher
Almindelige Danske Laegeforening
external identifiers
  • scopus:84925651064
  • pmid:25294512
ISSN
0041-5782
language
Danish
LU publication?
yes
id
78697b42-080e-4306-b0d2-8064eab3ba57
date added to LUP
2019-05-27 20:26:04
date last changed
2025-10-14 09:03:07
@article{78697b42-080e-4306-b0d2-8064eab3ba57,
  abstract     = {{<p>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. </p>}},
  author       = {{Djursby, Malene and Wadt, Karin A W and Lorentzen, Henrik and Borg, Ake and Gerdes, Anne-Marie and Krogh, Lotte}},
  issn         = {{0041-5782}},
  keywords     = {{Cyclin-Dependent Kinase Inhibitor p18/genetics; Family; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Melanoma/genetics; Middle Aged; Mutation; Skin Neoplasms/genetics}},
  language     = {{dan}},
  month        = {{09}},
  number       = {{40}},
  publisher    = {{Almindelige Danske Laegeforening}},
  series       = {{Ugeskrift for Laeger}},
  title        = {{CDKN2A-mutation hos en familie med arveligt malignt melanom}},
  volume       = {{176}},
  year         = {{2014}},
}