1
Principal Investigator Name
Last Name: Lydia Usha, MD and Lela Buckingham, PhD
Department
Division of Hematology, Oncology, and Cell Therapy
Rush University Medical Center
Rush Inherited Susceptibility to Cancer (RISC) Center
The Rush Cancer Institute, Rush University
1725 W. Harrison St. # 809
Chicago, IL 60612
Breast cancer; ovarian cancer, genetic predisposition to
cancer, BRCA1; BRCA2; mutations
Lydia Usha, MD
312-563-2200
Lydia_usha@rush.edu
Until enrollment is met, open-ended
Therapeutic Area
Contact Name
Contact Phone
Contact E-Mail
Enrollment End Date (if
available)
ORA #
Sponsor
Clinical Trial Title
Clinical Trial Protocol
Description
12020709
Departmental
Can Undetected Familial Mutations in BRCA1 and BRCA2
Genes Explain Some Cancer in BRCA Non-Carriers? A
Pilot Project
The study aims to find out the genetic cause of
cancer in patients who had 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
negative 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
2
Clinical Trial Eligibility
Criteria
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 to prevent cancers in people who
are presently not known to have high risk of cancer.
1. Women who had breast or ovarian cancer
2. First-degree relatives of the known BRCA mutation
carriers
3. Patients who had negative blood test for this known
familial BRCA mutation
4. Men and women with other types of cancer meeting
criteria 2 and 3 may be eligible on a case-by-case basis
5. 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
6. A parent of a germ-line BRCA mutation carrier who has
tested negative for the mutation present in her (his)
child when the mutation is known to be present in other
family members
Note: Eligible candidates do not have to come to Rush to
participate in the study. All communications including signing
an informed consent form can be done by phone, fax, mail,
and e-mail.