University of Utah Research Foundation

Myriad Genetics, Inc.

The United States of America As Represented by the Department of Health

The United States of America As Represented by the Secretary of Health

Myraid Genetics, Inc.

Yoshio Miki

Sean V Tavtigian

Alexander Kamb

Mark H Skolnick

Donna M Shattuck-Eidens

P Andrew Futreal

Roger W Wiseman

Keith D Harshman

Jeff Swenson

David E Goldgar

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.

17q-linked breast and ovarian cancer susceptibility gene

170-linked breast and ovarian cancer susceptibility gene

17Q-linked breast and ovarian cancer susceptibility gene

Growing community of inventors

Salt Lake City, UT, United States of America

Yoshio Miki