17q-linked breast and ovarian cancer susceptibility gene

• US 6,162,897 A
• Filed: 05/02/1997
• Issued: 12/19/2000
• Est. Priority Date: 08/12/1994
• Status: Expired due to Term

• Current Assignee: University of Utah Research Foundation (State of Utah)
• Original Assignee: Myriad Genetics, University of Utah Research Foundation (State of Utah), United States Department Of Health And Human Services
• Inventors: Wiseman, Roger W., Miki, Yoshio, Skolnick, Mark H., Goldgar, David E., Harshman, Keith D., Swenson, Jeff, Shattuck-Eidens, Donna M., Futreal, P. Andrew, Tavtigian, Sean V., Kamb, Alexander
• Primary Examiner(s): Park, Hankyel
• Application Number:
  US08/850,727
• Time in Patent Office: 1,327 Days
• Field of Search: 530/350, 514/2, 435/7.1, 424/174.1
• US Class Current: 530/350
• CPC Class Codes: A01K 2217/05 Animals comprising random inserted nucleic acids (transgenic)
• CPC Class Codes: A61K 38/00 Medicinal preparations containing peptides peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00
• CPC Class Codes: A61K 48/00 Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
• CPC Class Codes: C07K 14/4702 Regulators; Modulating activity
• CPC Class Codes: C07K 14/4703 Inhibitors; Suppressors
• CPC Class Codes: C07K 14/82 Translation products from oncogenes
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 2600/136 Screening for pharmacological compounds
• CPC Class Codes: C12Q 2600/172 Haplotypes

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.

Claims

1. A composition of human BRCA1 polypeptide substantially free of other human proteins, said polypeptide comprising the amino acid sequence set forth in SEQ ID NO:

2.

2. A composition of human polypeptide substantially free of other human proteins, the amino acid sequence of said polypeptide comprising at least 95% identity with the wild-type BRCA1 polypeptide comprising the amino acid sequence set forth in SEQ ID NO:

2, said polypeptide having substantially similar function as wild-type BRCA1-polypeptide.

3. An isolated protein comprising a polypeptide comprising an amino acid sequence set forth in SEQ ID NO:

2.