Inventors:
Sean V. Tavtigian - Salt Lake City UT, US
David H.-F. Teng - Salt Lake City UT, US
Jacques Simard - St. Augustin de DesMaures, CA
Johanna M. Rommens - Toronto, CA
Lisa A. Cannon Albright - Salt Lake City UT, US
Susan L. Neuhausen - Salt Lake City UT, US
Assignee:
Myriad Genetics, Inc. - Salt Lake City UT
University of Utah Research Foundation - Salt Lake City UT
Hospital for Sick Children - Toronto
International Classification:
C12N 516, C12N 1512, C12N 1563
US Classification:
435325, 435 691, 435 701, 4353201, 536 231, 536 235
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 prostate cancer predisposing gene (HPC2), some alleles of which cause susceptibility to cancer, in particular prostate cancer. More specifically, the present invention relates to germline mutations in the HPC2 gene and their use in the diagnosis of predisposition to prostate cancer. The invention also relates to presymptomatic therapy of individuals who carry deleterious alleles of the HPC2 gene. The invention further relates to somatic mutations in the HPC2 gene in human prostate cancer and their use in the diagnosis and prognosis of human prostate cancer. Additionally, the invention relates to somatic mutations in the HPC2 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 HPC2 gene, (including gene therapy, protein replacement therapy, protein mimetics, and inhibitors).