University of Pennsylvania

Endorecherche, Inc.

Myriad Genetics, Inc.

Hsc Research and Development Limited Partnership

Hsc Reseach & Development Limited Partnership

Myriad Genectics, Inc.

Hsc Research & Development Limited Parntership

Fergus Couch

Johanna Rommens

Sean V Tavtigian

Alexander Kamb

Jacques Simard

Barbara L Weber

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 cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 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 BRCA2 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 BRCA2 gene for mutations, which are useful for diagnosing the predisposition to breast cancer.

Chromosome 13-linked breast cancer susceptibility gene

Growing community of inventors

St. Davids, PA, United States of America

Fergus Couch