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

doi:10.1136/jmedgenet-2014-102320

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

Research output: Contribution to journal › Article › peer-review

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).

Original language	English
Pages (from-to)	545-552
Number of pages	8
Journal	Journal of Medical Genetics
Volume	51
Issue number	8
DOIs	https://doi.org/10.1136/jmedgenet-2014-102320
Publication status	Published - 2014

Subject classification (UKÄ)

Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1136/jmedgenet-2014-102320Licence: CC BY-NC

http://www.ncbi.nlm.nih.gov/pubmed/24935963?dopt=Abstract

Cite this

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title = "High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.",

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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TY - JOUR

T1 - High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

AU - Helgadottir, Hildur

AU - Höiom, Veronica

AU - Jönsson, Göran B

AU - Tuominen, Rainer

AU - Ingvar, Christian

AU - Borg, Åke

AU - Olsson, Håkan

AU - Hansson, Johan

PY - 2014

Y1 - 2014

N2 - 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).

AB - 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).

U2 - 10.1136/jmedgenet-2014-102320

DO - 10.1136/jmedgenet-2014-102320

M3 - Article

C2 - 24935963

SN - 0022-2593

VL - 51

SP - 545

EP - 552

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 8

ER -

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

Abstract

Subject classification (UKÄ)

UN SDGs

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