17Q-linked breast and ovarian cancer susceptibility gene

Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Recombinant dna technique included in method of making a...

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435 6, 4353201, 435325, 536 235, 536 2431, 536 2433, 935 9, 935 60, 935 66, C12P 2106, C12Q 168, C07H 2104

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057472823

ABSTRACT:
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.

REFERENCES:
E. Marshall (1995) Science 269:1050-1055.
Vil et al (1995) Targeted Gene Therapy 9:190-199.
Molecular Biology of the Gene, 4th Edition, vol. 1 Eds. J. D. Watson et al., 1987, p. 313.

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