MUTACIONES DEL GEN LIGADO AL CROMOSOMA 17Q, DE SUSCEPTIBILIDAD AL CANCER DE MAMA Y DE OVARIO

LA PRESENTE INVENCION SE REFIERE GENERALMENTE AL CAMPO DE LA GENETICA HUMANA. ESPECIFICAMENTE LA PRESENTE INVENCION SE REFIERE A METODOS Y MATERIALES UTILIZADOS PARA AISLAR Y DETECTAR UN GEN HUMANO DE PREDISPOSICION AL CANCER DE OVARIOS Y MAMA (BRCA1), ALGUNOS ALELOS MUTANTES QUE CAUSAN LA SUSCEPTIB...

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Hauptverfasser:	DUROCHER, FRANCINE, SIMARD, JACQUES, EMI, MITSURU, NAKAMURA, YUSUKE, SHATTUCK-EIDENS, DONNA M
Format:	Patent
Sprache:	spa
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIREDCHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERSFROM A RACEMIC MIXTURE HUMAN NECESSITIES HYGIENE INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING ORGANIC CHEMISTRY PEPTIDES PHYSICS PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS TESTING VINEGAR WINE
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Zusammenfassung:	LA PRESENTE INVENCION SE REFIERE GENERALMENTE AL CAMPO DE LA GENETICA HUMANA. ESPECIFICAMENTE LA PRESENTE INVENCION SE REFIERE A METODOS Y MATERIALES UTILIZADOS PARA AISLAR Y DETECTAR UN GEN HUMANO DE PREDISPOSICION AL CANCER DE OVARIOS Y MAMA (BRCA1), ALGUNOS ALELOS MUTANTES QUE CAUSAN LA SUSCEPTIBILIDAD AL CANCER, EN PARTICULAR CANCER DE MAMA Y OVARIOS. MAS ESPECIFICAMENTE, LA INVENCION SE REFIERE A MUTACIONES DE LA LINEA GERMINAL EN EL GEN BRCA1 Y SU USO EN LA DIAGNOSIS DE LA PREDISPOSICION AL CANCER DE OVARIOS Y MAMA. LA PRESENTE INVENCION SE REFIERE ADEMAS A MUTACIONES SOMATICAS EN EL GEN BRCA1 EN EL CANCER DE OVARIOS Y DE MAMA HUMANO Y SU USO EN LA DIAGNOSIS Y PROGNOSIS DE DICHO CANCER. The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer.