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Article

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

Journal of medical genetics - 1 Aug 2014

Helgadottir Hildur, Höiom Veronica, Jönsson Göran, Tuominen Rainer, Ingvar Christian, Borg Ake, Olsson Håkan, Hansson Johan

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 24935963
DOI: 10.1136/jmedgenet-2014-102320
PMCID: PMC4112445

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