17q-linked breast and ovarian cancer susceptibility gene

Details 17q-linked breast and ovarian cancer susceptibility gene 17q-linked breast and ovarian cancer susceptibility gene

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 38/17 (2006.01) A61K 48/00 (2006.01) C07H 21/00 (2006.01) C07K 14/47 (2006.01) C07K 14/82 (2006.01) C07K 16/32 (2006.01) C07K 19/00 (2006.01) C12N 15/85 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2196790

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 mutataions 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.

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 présentent 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.

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