High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.
- Oncology and Pathology, MV
- Surgery (Lund)
Publishing year: 2014
Publication/Series: Journal of Medical Genetics
Document type: Journal article
Publisher: BMJ Publishing Group
Germline mutations in the tumour suppressor gene CDKN2A occur in 5-20% of familial melanoma cases. A single founder mutation, p.Arg112dup, accounts for the majority of CDKN2A mutations in Swedish carriers. In a national program, carriers of p.Arg112dup mutation have been identified. The aim of this study was to assess cancer risks in p.Arg112dup carriers and their first degree relatives (FDRs) and second degree relatives (SDRs).
- Medical Genetics
- ISSN: 0022-2593