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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. Read our disclaimer for details. Identifier: NCT01251900
Recruitment Status : Completed
First Posted : December 2, 2010
Last Update Posted : August 9, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

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....

Condition or disease
Breast Neoplasms

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

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Study Type : Observational
Actual Enrollment : 266 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: BRCA1 and BRCA2 Mutations and Triple Negative Disease in Hispanic/Latino Breast Cancer Subjects
Actual Study Start Date : July 7, 2011

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Breast Cancer

Hispanic women, over the age of 18, with breast cancer will be eligible.

Primary Outcome Measures :
  1. Collection of saliva from 2000 probands [ Time Frame: Every six months ]

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 99 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
primary clinical
  • 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.

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): NCT01251900

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United States, Texas
Southwest Cancer Center, Lubbock; Texas Tech University
Lubbock, Texas, United States, 79415
Sponsors and Collaborators
National Cancer Institute (NCI)
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Principal Investigator: Michael Dean, Ph.D. National Cancer Institute (NCI)
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Responsible Party: National Cancer Institute (NCI) Identifier: NCT01251900    
Other Study ID Numbers: 999911035
First Posted: December 2, 2010    Key Record Dates
Last Update Posted: August 9, 2022
Last Verified: December 6, 2021
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Triple Negative Disease
Breast Cancer
Natural History
Additional relevant MeSH terms:
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Breast Neoplasms
Neoplasms by Site
Breast Diseases
Skin Diseases