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A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young Women

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00858078
Recruitment Status : Completed
First Posted : March 9, 2009
Last Update Posted : October 1, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief Summary:


  • Mutations detected in the BRCA1 or BRCA2 genes have been show to produce very high risks of breast and ovarian cancer (as high as 90% and 60%, respectively), as well as accompanying risks for several other types of cancer. Women who have these genetic anomalies and who do not have cancer are aware of their high-risk status, which can have an effect on their ability to make decisions about personal choices and health care.
  • Researchers are interested in learning more about how people who know their cancer risk status make decisions on personal relationships, family formation, and risk-reduction options.


- To study young women s experiences and decision-making processes regarding family history, genetic testing, couple relationships, family formation, and cancer risk management within the context of their experiences as BRCA1/2 mutation carriers.


  • Women between the ages of 18 and 35 years of age and older who have been identified as having a BRCA1 or BRCA2 mutation. Participants must be contemplating or have experienced couple relationships, family formation, and/or risk management and reduction.
  • Participants must be willing to have their interviews digitally recorded


  • Researchers will conduct between 30 and 50 telephone interviews of study participants. Each interview will be approximately 90 minutes in length. The interview consists of open-ended questions that ask about the participants and their experiences before, during, and after they underwent genetic testing for BRCA1/2.
  • At least one focus group will be coordinated at a national conference for individuals who are aware of their genetically based cancer risk. If more than 25 individuals are interested in participating in the group, an additional focus group will be convened.
  • No medical treatments are specifically offered as a part of this study....

Condition or disease
BRCA1 Gene BRCA2 Gene

  Show Detailed Description

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Study Type : Observational
Actual Enrollment : 76 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: A Qualitative Exploration of the Impact of Positive BRCA 1/2 Mutation Status on the Lives of Young Women
Study Start Date : January 27, 2009

Primary Outcome Measures :
  1. Telephone Interviews [ Time Frame: ongoing ]
    Conduct follow-up telephone interviews with participantswho were newly-tested at the time of original data collection to increase understanding of their mutationpositive experience longitudinally.

  2. Focus Group Sessions [ Time Frame: ongoing ]
    Conduct two (2) focus group sessions at the JoiningFORCES Annual Conference, focusing on the unique geneticcounseling and support needs of women who consider or undergo genetic testing for BRCA1/2 prior to age 25.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Young BRCA1/2 mutation carriers who meet the study criteria.@@@@@@
  • Participants must be biologically female
  • Participants must have reached their 18th birthday but not have passed their 35th birthday
  • Participants must be able to speak and understand English with a level of fluency sufficient for completion of the recorded telephone interview
  • Participants must have completed genetic testing for BRCA1/2 and received a positive test result (i.e., a deleterious or disease-related mutation was identified).
  • Participants must have experienced or be contemplating/planning couple relationship(s), formation of a family, and/or utilization of risk management/reduction strategies at some point.


-Potential participants will be excluded from the study if they do not agree to have their interview or focus group contributions audio recorded.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00858078

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United States, Maryland
National Cancer Institute (NCI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
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Principal Investigator: Mark H Greene, M.D. National Cancer Institute (NCI)

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Responsible Party: National Cancer Institute (NCI) Identifier: NCT00858078     History of Changes
Obsolete Identifiers: NCT00954239
Other Study ID Numbers: 999909074
First Posted: March 9, 2009    Key Record Dates
Last Update Posted: October 1, 2019
Last Verified: December 21, 2018
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Qualitative Research
Semi-Structured Telephone Interview
BRCA 1/2
Psychosocial/Behavioral Research
Hereditary Cancer Risk
BRCA1 Gene
BRCA2 Gene