Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified us...

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Veröffentlicht in:	PloS one 2018-01, Vol.13 (1), p.e0190050-e0190050
Hauptverfasser:	Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, Overeem Hansen, Thomas van, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Biology and Life Sciences Breast cancer Cancer Carriers Child Child, Preschool Denmark Development and progression Exploration Female Gene mutation Genes, p53 Genetics Germ-Line Mutation Health aspects Health risk assessment Humans Identification methods Infant Laboratories Li-Fraumeni syndrome Male Medical diagnosis Medical genetics Medicine and Health Sciences Middle Aged Mutation Ovarian cancer p53 Protein Pedigree Registries Research and Analysis Methods Tumor proteins Tumors Womens health Young Adult
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