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Åke Borg

Åke Borg

Principal investigator

Åke Borg

CDKN2A-mutation hos en familie med arveligt malignt melanom

CDKN2A-mutation in a family with hereditary malignant melanoma

Author

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

Summary, in English

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.

Department/s

  • Familial Breast Cancer
  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2014-09-29

Language

Danish

Publication/Series

Ugeskrift for Laeger

Volume

176

Issue

40

Document type

Journal article

Publisher

Den Almindelige Danske Lægeforening

Topic

  • 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

Status

Published

Research group

  • Familial Breast Cancer

ISBN/ISSN/Other

  • ISSN: 0041-5782