CDKN2A-mutation hos en familie med arveligt malignt melanom

Research output: Contribution to journalArticle

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.

Details

Authors
  • Malene Djursby
  • Karin A W Wadt
  • Henrik Lorentzen
  • Ake Borg
  • Anne-Marie Gerdes
  • Lotte Krogh
Organisations
External organisations
  • Copenhagen University Hospital
  • Aarhus University Hospital
  • Odense University Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • 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
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
Publication categoryResearch
Peer-reviewedYes