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Undetected BRCA Mutations in Patients with Breast and Other Cancers

Clinical Trial Title: 
Can undetected familial mutations in BRCA1 and BRCA2 genes explain some cancer in BRCA non-carriers? A pilot project.
Clinical Trial Protocol ID: 
Clinical Trial Investigator Name: 
Lydia Usha, MD
Clinical Trial Protocol Description: 

The study aims to find out the genetic cause of cancer in patients who had commercial blood testing for cancer predisposition and it did not show a genetic abnormality that would explain their cancer. This research tests the idea that some people may be chimeric and have the familial BRCA mutation in some tissues, but not in the blood. Chimera is the organism consisting of two cell populations with different genetic makeup which are present since birth. If this hypothesis is correct, then the tissues that harbor this BRCA mutation would be susceptible to developing cancer.

The study is recruiting cancer patients from families with a known BRCA 1 or 2 gene mutation who tested negatively for this mutation. In the course of this study, the preserved cancer tissue will be retrieved from a hospital where the patient had surgery. Once retrieved, the tissue will undergo molecular testing for the known familial BRCA 1 or 2 gene mutation. If the familial mutation is found in the tumor tissue, it would mean that it was inherited through chimerism. If the hypothesis is confirmed, it would mean that the person may be predisposed to cancer even though his/her BRCA testing was negative. This information may change the current practice of genetic counseling and testing for cancer predisposition and potentially help prevent cancers in people who are presently not known to have high risk of cancer.

Clinical Trial Eligibility Criteria: 

In order to participate you must meet the following criteria:

  • Are a women who had breast or ovarian cancer.
  • Are first-degree relatives of the known BRCA mutation carriers.
  • Are a patient who had negative blood test for this known familial BRCA mutation.
  • Are a man or woman with other types of cancer meeting criteria 2 and 3 (may be eligible on a case-by-case basis).
  • Are second- and third-degree relatives of the known BRCA mutation carriers meeting criteria 1 and 3 (may be eligible on a case-by-case basis).

This is a partial list of eligibility requirements. To inquire about your eligibility, please call the contact number provided. If you wish to inquire via email, please include the title of the study in your message.

Clinical Trial Area: 
Breast Cancer
Gynecologic Cancers
Contact Email: 
Contact Phone: 
(312) 563-2200
Contact Name: 
Lydia Usha, MD