CDKN2A-mutation hos en familie med arveligt malignt melanom

Translated title of the contribution: CDKN2A-mutation in a family with hereditary malignant melanoma

Malene Djursby, Karin A W Wadt, Henrik Lorentzen, Ake Borg, Anne-Marie Gerdes, Lotte Krogh

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionCDKN2A-mutation in a family with hereditary malignant melanoma
Original languageDanish
JournalUgeskrift for Laeger
Volume176
Issue number40
Publication statusPublished - 2014 Sep 29

Subject classification (UKÄ)

  • Cancer and Oncology

Keywords

  • Cyclin-Dependent Kinase Inhibitor p18/genetics
  • Family
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Male
  • Melanoma/genetics
  • Middle Aged
  • Mutation
  • Skin Neoplasms/genetics

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