Åke Borg
Principal investigator
CDKN2A-mutation hos en familie med arveligt malignt melanom
CDKN2A-mutation in a family with hereditary malignant melanoma
Author
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