BRCA Mutations in Latinas

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01251900
Recruitment Status : Recruiting
First Posted : December 2, 2010
Last Update Posted : June 14, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

December 1, 2010
December 2, 2010
June 14, 2018
November 12, 2010
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Collection of saliva from 2000 probands [ Time Frame: Every six months ]
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Complete list of historical versions of study NCT01251900 on Archive Site
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BRCA Mutations in Latinas
BRCA1 and BRCA2 Mutations and Triple Negative Disease in Hispanic/Latino Breast Cancer Subjects


- BRCA1 and BRCA2 gene mutations have been linked to a higher risk of developing breast cancer and other cancers, and may be associated with types of breast cancer that are more difficult to treat and more likely to recur. New cancer treatments are being developed specifically to treat individuals who have these gene mutations. However, more information is needed about the prevalence of these mutations in minority populations, including Hispanic/Latino populations. To study these populations, researchers are interested in collecting genetic material (DNA) and medical history information from Hispanic/Latino women who have been diagnosed with breast cancer.


- To collect saliva samples and medical and family history information from Hispanic/Latino women with breast cancer.


- Hispanic/Latino women at least 18 years of age who have been diagnosed with breast cancer.


  • Participants will complete a questionnaire with information about place of birth, languages spoken by parents and grandparents, and information about their breast cancer diagnosis.
  • Participants will provide a saliva sample (2 to 3 tablespoons) for analysis.
  • No treatment will be provided as part of this protocol.


  • Mutations in the BRCA1 and BRCA2 genes predispose to breast and ovarian cancer, and are increasingly recognized in prostate and pancreatic cancers.
  • Basal/ Triple negative breast cancer is associated with BRCA mutations in some ethnicities.However the link between BRCA gene mutations and Basil/ triple negative disease in Hispanic/ Latino women is not known.
  • Common recurrent mutations in BRCA1 and BRCA2 exist in Hispanic/ Latino communities.
  • New therapies such as PARP inhibitors may be particularly effective in BRCA mutation carriers.
  • Therefore a unique opportunity exists to identify women in this underserved minority that may be eligible for and benefit from new targeted therapies.


- The primary objective is to collect saliva samples and histology data from up to 2000 Hispanic/ Latino subjects with breast cancer as a source of DNA, and to analyze the BRCA1 and BRCA2 genes..


- All Hispanics females, over the age of 18, with breast cancer will be eligible.


- Natural history study of 2000 Hispanic/Latino women with breast cancer, 1000 with triple

negative disease, 1000 without.

  • Obtain clinical pathology reports and relevant history data on all subjects.
  • Analyze recurrent BRCA1 and BRCA2 mutations
Observational Model: Case-Only
Time Perspective: Cross-Sectional
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Breast Neoplasms
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
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  • Patient must be self-identified of Hispanic/Latino origin.
  • Patients must have histologically or cytologically confirmed diagnosis of breast cancer.
  • Age greater than or equal to 18 years.
  • Ability to understand and the willingness to sign a written informed consent document.
  • Must be willing and able to provide a saliva sample, answer questionnaire data online or complete a paper questionnaire, and request a copy of their pathology report.


- Males and subjects under the age of 18.

Sexes Eligible for Study: Female
18 Years to 99 Years   (Adult, Older Adult)
Contact: Michael Dean, Ph.D. (240) 760-6484
United States
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National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
National Cancer Institute (NCI)
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Principal Investigator: Michael Dean, Ph.D. National Cancer Institute (NCI)
National Institutes of Health Clinical Center (CC)
January 16, 2018