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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 : May 8, 2020
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Tracking Information
First Submitted Date December 1, 2010
First Posted Date December 2, 2010
Last Update Posted Date May 8, 2020
Actual Study Start Date November 12, 2010
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: March 31, 2015)
Collection of saliva from 2000 probands [ Time Frame: Every six months ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title BRCA Mutations in Latinas
Official Title BRCA1 and BRCA2 Mutations and Triple Negative Disease in Hispanic/Latino Breast Cancer Subjects
Brief Summary


- 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.
Detailed Description


  • 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
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population All Hispanic women, over the age of 18, with breast cancer will be eligible.
Condition Breast Neoplasms
Intervention Not Provided
Study Groups/Cohorts Patients
Hispanic women, over the age of 18, with breast cancer will be eligible.
Publications * Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, Perez M, Mitchell J, Roberson D, Jones K, Lee HJ, Eggebeen R, Sawitzke J, Bass S, Zhang X, Robles V, Hollis C, Barajas C, Rath E, Arentz C, Figueroa JA, Nguyen DD, Nahleh Z. Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. Gigascience. 2015 Nov 4;4:50. doi: 10.1186/s13742-015-0088-z. eCollection 2015.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: December 1, 2010)
Original Estimated Enrollment Same as current
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  • 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
Ages 18 Years to 99 Years   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contact: Michael Dean, Ph.D. (240) 760-6484
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01251900
Other Study ID Numbers 999911035
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Study Sponsor National Cancer Institute (NCI)
Collaborators Not Provided
Principal Investigator: Michael Dean, Ph.D. National Cancer Institute (NCI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date January 8, 2020