High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

Summary, in English

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).

• Author: Hildur Helgadottir; Veronica Höiom; Göran B Jönsson; Rainer Tuominen; Christian Ingvar; Åke Borg; Håkan Olsson; Johan Hansson
• Department/s: Breastcancer-genetics; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation; Surgery (Lund); EpiHealth: Epidemiology for Health
• Publishing year: 2014
• Language: English
• Pages: 545-552
• Publication/Series: Journal of Medical Genetics
• Volume: 51
• Issue: 8
• Links: http://www.ncbi.nlm.nih.gov/pubmed/24935963?dopt=Abstract; http://dx.doi.org/10.1136/jmedgenet-2014-102320
• Document type: Journal article
• Publisher: BMJ Publishing Group
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 0022-2593