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1. WO1996005306 - IN VIVO MUTATIONS AND POLYMORPHISMS IN THE 17q-LINKED BREAST AND OVARIAN CANCER SUSCEPTIBILITY GENE

Publication Number WO/1996/005306
Publication Date 22.02.1996
International Application No. PCT/US1995/010202
International Filing Date 11.08.1995
Chapter 2 Demand Filed 11.03.1996
IPC
A61K 38/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
38Medicinal preparations containing peptides
A61K 48/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
C07K 14/47 2006.01
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435from animals; from humans
46from vertebrates
47from mammals
C07K 14/82 2006.01
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
82Translation products from oncogenes
C12Q 1/68 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
CPC
A01K 2217/05
AHUMAN NECESSITIES
01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
2217Genetically modified animals
05Animals comprising random inserted nucleic acids (transgenic)
A61K 38/1709
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
38Medicinal preparations containing peptides
16Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
17from animals; from humans
1703from vertebrates
1709from mammals
A61K 48/00
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
C07K 14/4703
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435from animals; from humans
46from vertebrates
47from mammals
4701not used
4702Regulators; Modulating activity
4703Inhibitors; Suppressors
C07K 14/82
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
82Translation products from oncogenes
C12Q 1/6886
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
6886for cancer
Applicants
  • MYRIAD GENETICS, INC. [US]/[US]
  • CENTRE DE RECHERCHE DU CHUL [CA]/[CA]
  • CANCER INSTITUTE [JP]/[JP]
Inventors
  • SHATTUCK-EIDENS, Donna, M.
  • SIMARD, Jacques
  • EMI, Mitsuru
  • NAKAMURA, Yusuke
  • DUROCHER, Francine
Agents
  • IHNEN, Jeffrey, L.
Priority Data
08/289,22112.08.1994US
08/300,26602.09.1994US
08/308,10416.09.1994US
08/348,82429.11.1994US
08/409,30524.03.1995US
08/480,78407.06.1995US
08/483,55307.06.1995US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) IN VIVO MUTATIONS AND POLYMORPHISMS IN THE 17q-LINKED BREAST AND OVARIAN CANCER SUSCEPTIBILITY GENE
(FR) MUTATIONS ET POLYMORPHISMES IN VIVO DU GENE DE LA SUSCEPTIBILITE AU CANCER DU SEIN ET DES OVAIRES LIE AU 17Q
Abstract
(EN)
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. Additionally, the invention relates to somatic mutations in the BRCA1 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA1 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian cancer.
(FR)
L'invention concerne le domaine de la génétique humaine. De manière spécifique, l'invention concerne des procédés et des matériaux utilisés pour isoler et détecter un gène de prédisposition au cancer des ovaires et du sein (BRCA1), dont certains allèles mutants provoquent la susceptibilité au cancer, en particulier, au cancer du sein et des ovaires. Plus particulièrement, l'invention concerne des mutations de lignées germinales dans le gène BRCA1 et leur utilisation pour diagnostiquer la prédisposition au cancer du sein et des ovaires. L'invention concerne également des mutations somatiques du gène BRCA1 dans le cancer humain du sein et des ovaires, et leur utilisation pour le diagnostic et le pronostic de cancer humain des ovaires et du sein. En outre, l'invention concerne des mutations somatiques du gène BRCA1 dans d'autres cancers humains et leur utilisation dans le diagnostic et le pronostic de cancers humains. L'invention concerne également la thérapie de cancers humains qui présente une mutation du gène BRCA1, y compris la thérapie génique, la thérapie par remplacement de protéines et les mimétiques de protéines. L'invention concerne le dosage de médicaments utilisés pour la thérapie du cancer. Enfin, l'invention concerne le dosage du gène BRCA1 pour détecter des mutations, ce qui peut permettre de diagnostiquer la prédisposition au cancer du sein et des ovaires.
Also published as
FI970513
KR1019970700900
NO19970624
NZ291621
Latest bibliographic data on file with the International Bureau