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

Helgadottir, Hildur ; Höiom, Veronica ; Jönsson, Göran B LU ; Tuominen, Rainer ; Ingvar, Christian LU ; Borg, Åke LU ; Olsson, Håkan LU orcid and Hansson, Johan (2014) In Journal of Medical Genetics 51(8). p.545-552
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).
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Medical Genetics
volume
51
issue
8
pages
8 pages
publisher
BMJ Publishing Group
external identifiers
  • pmid:24935963
  • wos:000339271200008
  • scopus:84905579541
  • pmid:24935963
ISSN
0022-2593
DOI
10.1136/jmedgenet-2014-102320
language
English
LU publication?
yes
id
1f94fdee-d590-4ef0-88d1-8296d3f54b2c (old id 4528376)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24935963?dopt=Abstract
date added to LUP
2016-04-01 13:52:07
date last changed
2021-09-22 05:40:52
@article{1f94fdee-d590-4ef0-88d1-8296d3f54b2c,
  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).},
  author       = {Helgadottir, Hildur and Höiom, Veronica and Jönsson, Göran B and Tuominen, Rainer and Ingvar, Christian and Borg, Åke and Olsson, Håkan and Hansson, Johan},
  issn         = {0022-2593},
  language     = {eng},
  number       = {8},
  pages        = {545--552},
  publisher    = {BMJ Publishing Group},
  series       = {Journal of Medical Genetics},
  title        = {High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.},
  url          = {http://dx.doi.org/10.1136/jmedgenet-2014-102320},
  doi          = {10.1136/jmedgenet-2014-102320},
  volume       = {51},
  year         = {2014},
}