Chromosome 13-linked breast cancer susceptibility gene

C - Chemistry – Metallurgy – 12 – N

Patent

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Details

C12N 15/12 (2006.01) A01K 67/027 (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) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/574 (2006.01)

Patent

CA 2239733

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 cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 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 BRCA2 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 BRCA2 gene for mutations, which are useful for diagnosing the predisposition to breast cancer.

Dans le domaine de la génétique humaine, on décrit des procédés et substances permettant d'isoler et de détecter un gène (BRCA2) humain de prédisposition au cancer du sein, gène dont des allèles mutants créent cette prédisposition au cancer, du sein notamment. Plus précisément, on décrit des mutations de lignées germinales du gène BRCA2 et leur utilisation pour diagnostiquer une prédisposition au cancer du sein. On décrit aussi des mutations somatiques du gène BRCA2 du cancer du sein et leur utilisation pour le diagnostic et le pronostic du cancer du sein. On décrit aussi des mutations somatiques du gène BRCA2, liées à d'autres cancers humains, et leur utilisation pour le diagnostic et le pronostic de cancers humains. On décrit encore des thérapies de cancers humains dûs à une mutation du gène BRCA2, y compris une thérapie génique une thérapie par remplacement de protéines et des mimétiques de protéines. On décrit enfin le criblage de médicaments pour le traitement du cancer et celui des gènes BRCA2 pour y découvrir des mutations utiles pour diagnostiquer une prédisposition au cancer du sein.

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