17.alpha.-coupled breast and ovarian cancer susceptibility genes

The present invention relates generally to the field of human genetics. Especially regarding ear methods and materials used to isolate and detect a human breast and ovarian cancer predisponeringsgen (BRCA1), some mutantalleler of which causes susceptibility to cancer, particularly breast and ovarian cancer. More specifically regarding ear gamete mutations in the BRCA1 gene and their use in the diagnosis of predisposition of human breast and ovarian cancer. Further the invention relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in diagnosis and prognosis of human breast and ovarian cancer. In addition, regarding ear somatic mutations in the BRCA1 gene in other human cancers and their use in diagnosis and prognosis of human cancers. The invention also relates to the treatment of human cancers which have mutations in the BRCA1 gene including gene therapy, protein replacement therapy and protein mimetics. Part described further screening of drugs for cancer therapy. Finally discloses the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition of breast and ovarian cancer.