Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an american breast/ovarian cancer family previously studied by direct sequencing
- Author
- GAD, Sophie1 ; SCHEUNER, Maren T2 ; PAGES-BERHOUET, Sabine1 ; CAUX-MONCOUTIER, Virginie1 ; BENSIMON, Aaron3 ; AURIAS, Alain4 ; PINTO, Mark2 ; STOPPA-LYONNET, Dominique1
[1] Service de Génétique Oncologique, Institut Curie, Section Médicale, 26 rue d'Ulm, 75248 Paris, France
[2] GenRISK Program, Division of Medical Genetics, Cedars-Sinai Medical Center, UCLA School of Medicine, California, United States
[3] Laboratoire de Biophysique de l'ADN, Institut Pasteur, Paris, France
[4] INSERM U509, Pathologie Moléculaire des Cancers, Institut Curie, Paris, France - Source
Journal of medical genetics. 2001, Vol 38, Num 6, pp 388-392 ; ref : 30 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Code barre Couleur DNA Déterminisme génétique Etude familiale Exploration Glande mammaire Homme Ovaire Pathogénie Réarrangement génique Technique Tumeur maligne Gène BRCA1 Appareil génital femelle pathologie Biologie moléculaire Glande mammaire pathologie Maladie héréditaire Ovaire pathologie
- Keyword (en)
- Bar code Color DNA Genetic determinism Family study Exploration Mammary gland Human Ovary Pathogenesis Gene rearrangement Technique Malignant tumor Female genital diseases Molecular biology Mammary gland diseases Genetic disease Ovarian diseases
- Keyword (es)
- Código barra Color DNA Determinismo genético Estudio familiar Exploración Glándula mamaria Hombre Ovario Patogenia Redisposición génica Técnica Tumor maligno Aparato genital hembra patología Biología molecular Glándula mamaria patología Enfermedad hereditaria Ovario patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20E Mammary gland diseases / 002B20E02 Tumors
- Discipline
- Gynecology. Andrology. Obstetrics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1032027
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.38.6.388 
https://dx.doi.org/10.1136/jmg.38.6.388
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