Linked breast and ovarian cancer susceptibility gene

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, 536 231, 536 243, 536 2433, C12Q 168, C12P 1934, C07H 2104, C07H 2102

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active

056934734

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:
Castilla, L. H. et al. (1994). "Mutations in the BRCA 1 gene in families with early-onset breast and ovarian cancer," Nature Genetics 8:87-391.
Friedman, L.S. et al. (1994). "Confirmation of BRCA 1 by analysis of germline mutations linked to breast and ovarian cancer in ten families," Nature Genetics 8:399-404.
Goldgar, D.E. et al. (1994). "A Large Kindred With 17q-Linked Breast and Ovarian Cancer: Genetic, Phenotypic, and Genealogical Analysis," J. Natl. Cancer Institute 86:200-209.
Liang, P. et al. (1992). "Differential Display and Cloning Of Messenger RNAs from Human Breast Cancer versus Mammary Epithelial Cells," Cancer Research 52:6966-6968.
Neuhausen, S.L. et al. (1994). "A P1-based physical map of the region from D17S776 to D17378 containing the breast cancer susceptibility gene BRCA 1," Hum. Mol. Gen. 3:1919-1926.
Sato, T. et al. (1992). "The Human Prohibitin Gene Located on Chromosome 17q21 is Mutated in Sporadic Breast Cancer," Cancer Research 52:1543-1646.
Stampfer, M.R. et al. (1993). "Culture Systems for Study of Human Mammary Epithelial Cell Proliferation, Differentiation And Transformation," Cancer Surveys 18:7-34.
Wooster, R. et al. (1994). "Localization of a Breast Cancer Susceptibility Gene, BRCA2, to Chromosome 13q12-13," Science 265:2088-2090.

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