Method for Determining the Presence of Mutated BRCA Protein

Baystate Health, Inc
posted on 03/09/2009

This invention provides a simple, non-invasive, and affordable method of determining if a woman is at risk for breast or ovarian cancer, that could make such genetic testing accessible to a broader population than is now possible. Mutations in the BRCA-1 and BRCA-2 genes have been identified as being responsible for about 90% of all early-onset hereditary breast and ovarian cancers. Most of the disease-causing mutations in these genes are found in the C—terminal region of the proteins encoded by the genes, often via deletions leading to proteins truncated at the C-terminus. The method of the invention involves the use antibodies to the C-terminal and N-terminal regions of the BRCA proteins, in order to detect the presence of C-terminus-truncated proteins. A swab is taken from the inner cheek of the patient, to obtain buccal cells which are then assayed for the presence of the BRCA proteins. An altered ratio of C-terminus binding to N-terminus binding would indicate the presence of a BRCA mutation that would place the patient at increased risk of developing breast or ovarian cancer. Although the current market for genetic testing for BRCA mutations is dominated by the DNA testing method offered by Myriad Genetics, the current invention offers a lower-cost alternative that would make susceptibility testing affordable to a broader range of potentially-at-risk women. Due to the high cost of the Myriad assay, it is only cost-effective for doctors to prescribe the test for women believed to be at highest risk. The availability of a less expensive, minimally-invasive, rapid assay for BRCA mutations would make such testing much more widely available, and thus applicable to a greater number of women who may also be at risk for developing breast cancer. Baystate Health is the owner of issued U.S. Patent No. 5965377 and European Patent No. 0975973 claiming this invention, along with several pending counterparts elsewhere in the world. Baystate Health, Inc. is offering a worldwide exclusive license to this technology.