This study will identify how personal beliefs, values and family experiences affect a
person's decision as to whether or not to be tested for changes in a gene called BRCA1 or
BRCA2. Changes in these genes are associated with a significantly increased risk of breast
and ovarian cancer in women, a slightly higher risk of prostate cancer in men, and a
slightly higher risk of colon cancer in both men and women.
Families enrolled in the National Cancer Institute's familial cancer research project who
also participated in a telephone survey (protocol 78-C-0039) regarding their level of
interest in BRCA1/2 testing results may be eligible for this study.
All participants will complete a 20- to 30-minute questionnaire assessing knowledge, risk
perception and personality traits, and will participate in an education session to review
- Information about their individual cancer risk, based on family history
- Potential benefits and risks (medical, psychological and social) of BRCA1/2 testing,
both for those who test positive and those who test negative
- Overview of DNA testing (what is done and how accurate it may or may not be)
- Medical management options for those at increased risk for breast and ovarian cancer
- Environmental cancer risk factors
- Instruction in breast self-examination
Participants will then be asked whether or not they want to undergo BRCA1/2 testing
Those who want to be tested will be divided into two groups to compare counseling methods
(client-centered vs. counselor-driven counseling). A small blood sample (2 to 3
tablespoons) will be drawn for genetic analysis. Test results will be provided in person at
a second visit-this may take 6 months or more. A follow-up telephone call 2 weeks after
receipt of the test results will address participants' questions and provide support.
During a third visit, scheduled 6 months after receipt of the test results, participants
will complete questionnaires evaluating mood, attitude, self-esteem, family interactions,
cancer screening practices, and other factors. Finally, 1 year after receipt of the test
results, participants will be contacted by telephone and asked about their feelings about
the test and its outcome.
Individuals who choose not to have gene testing will not participate in any in-person
sessions after the initial visit. They will be followed with no more than two telephone
interviews to assess their feelings and attitudes related to their decision not to be
Individuals may reconsider and change their mind at any time regarding their
decision-whether to be tested or not.
The results of the study will help experts devise the most effective methods of educating
and counseling people at high risk for having an altered BRCA1/2 gene.
Women at increased risk for developing breast and/or ovarian cancer and their first degree
relatives will be offered BRCA1/2 gene testing. This study proposes to evaluate
psychological and behavioral aspects of their decision-making and the outcomes of the
testing process. Knowledge and expectations will be assessed initially, followed by
pre-test psychological assessment and an in person education and counseling session.
Participants will be presented the choice of whether or not to undergo BRCA1/2 testing.
Notification of test results will occur in person along with discussion of available
surveillance options. Telephone interviews will assess psychological and behavioral outcome
measures at 6 and/or twelve month time points. Aspects of this research endeavor have been
designed to complement an NHGRI/NCI extramural consortium and an NHGRI/NCI intramural
collaboration both of which will address various aspects of risk notification and follow-up
for hereditary breast, ovarian and colon cancer.
Participants will be drawn from the families enrolled by Drs. Peggy Tucker and Jeff
Struewing in the GEB of NCI (protocol 78-C-0039).
Individual with a family history of verified breast and/or ovarian cancer that includes;
1. two cases of ovarian cancer in first degree relatives, or
2. three cases of breast cancer and at least one case of ovarian cancer (two of which
have to be first degree relatives), or
3. at least four cases of breast cancer.