The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Author

  • Hildur Helgadottir
  • Veronica Höiom
  • Göran B Jönsson
  • Rainer Tuominen
  • Christian Ingvar
  • Åke Borg
  • Håkan Olsson
  • Johan Hansson

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).

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

Document type

Journal article

Publisher

BMJ Publishing Group

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 0022-2593