Inventors:
Mark H. Skolnick - Salt Lake City UT
David E. Goldgar - Salt Lake City UT
Yoshio Miki - Salt Lake City UT
Jeff Swenson - Salt Lake City UT
Alexander Kamb - Salt Lake City UT
Keith D. Harshman - Salt Lake City UT
Sean V. Tavtigian - Salt Lake City UT
Roger W. Wiseman - Durham NC
P. Andrew Futreal - Durham NC
Assignee:
Myriad Genetics, Inc. - Salt Lake City UT
University of Utah Research Foundation - Salt Lake City UT
The United States of America as represented by the Secretary of Health
and Human Services, Technology Transfer Office - Washington DC
International Classification:
C12Q 168
C12P 1934
C07H 2102
C07H 2104
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.