TP53 germline mutation testing in 180 families suspected of Li—Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
- Author
- RUIJS, Marielle W. G1 2 ; VERHOEF, Senno1 ; AUSEMS, Margreet G.E M7 ; HOOGERBRUGGE, Nicoline8 ; VAN ASPEREN, Christi J9 ; GOMEZ GARCIA, Encarna B10 ; MEIJERS-HEIJBOER, Hanne2 ; TEN KATE, Leo P2 ; MENKO, Fred H2 ; VAN 'T VEER, Laura J1 ; ROOKUS, Matti A3 ; PRUNTEL, Roelof1 ; VAN DER HOUT, Annemarie H4 ; HOGERVORST, Frans B. L1 ; KLUIJT, L1 ; SIJMONS, Rolf H4 ; AALFS, Cora M5 ; WAGNER, Anja6
[1] Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, Netherlands
[2] Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands
[3] Department of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, Netherlands
[4] Department of Genetics, University Medical Centre, Groningen, Netherlands
[5] Department of Clinical Genetics, Amsterdam Medical Centre, Amsterdam, Netherlands
[6] Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands
[7] Department of Clinical Genetics, University Medical Centre, Utrecht, Netherlands
[8] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Netherlands
[9] Department of Clinical Genetics, Leiden University Medical Centre, Netherlands
[10] Department of Clinical Genetics, University Medical Centre, Maastricht, Netherlands - Source
Journal of medical genetics. 2010, Vol 47, Num 6, pp 421-428, 8 p ; ref : 34 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Détection Etude familiale Fréquence Gène TP53 Génétique Homme Lignée germinale Mutation Phénotype Syndrome de Li-Fraumeni Tumeur maligne Cancer Maladie héréditaire Multiple
- Keyword (en)
- Detection Family study Frequency TP53 Gene Genetics Human Germ line Mutation Phenotype Li-Fraumeni syndrome Malignant tumor Cancer Genetic disease Multiple
- Keyword (es)
- Detección Estudio familiar Frecuencia Gen TP53 Genética Hombre Línea germinal Mutación Fenotipo Li-Fraumeni síndrome Tumor maligno Cáncer Enfermedad hereditaria Múltiple
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22891016
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1136/jmg.2009.073429 
https://dx.doi.org/10.1136/jmg.2009.073429
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