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

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Abstract

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).

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  • Medical Genetics
Original languageEnglish
Pages (from-to)545-552
JournalJournal of Medical Genetics
Volume51
Issue number8
Publication statusPublished - 2014
Publication categoryResearch
Peer-reviewedYes