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

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ) Identifier:
First received: March 6, 2009
Last updated: June 30, 2017
Last verified: February 1, 2017


  • 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.

BRCA1 Gene BRCA2 Gene

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):

Primary Outcome Measures:
  • 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. [ 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. [ Time Frame: ongoing ]

Estimated Enrollment: 126
Study Start Date: January 26, 2009
  Show Detailed Description


Ages Eligible for Study:   18 Years to 100 Years   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
  • 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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00858078

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

Responsible Party: National Cancer Institute (NCI) Identifier: NCT00858078     History of Changes
Obsolete Identifiers: NCT00954239
Other Study ID Numbers: 999909074
Study First Received: March 6, 2009
Last Updated: June 30, 2017

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 processed this record on September 21, 2017