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

  • Hildur Helgadottir
  • Veronica Höiom
  • Göran B Jönsson
  • Rainer Tuominen
  • Christian Ingvar
  • Åke Borg
  • Håkan Olsson
  • Johan Hansson
Publishing year: 2014
Language: English
Pages: 545-552
Publication/Series: Journal of Medical Genetics
Volume: 51
Issue: 8
Document type: Journal article
Publisher: BMJ Publishing Group

Abstract 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).


  • Medical Genetics


  • ISSN: 0022-2593
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2