Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2

Michael Dean, Joseph Boland, Meredith Yeager, Kate M. Im, Lisa Garland, Maria Rodriguez-Herrera, Mylen Perez, Jason Mitchell, David Roberson, Kristine Jones, Hyo Jung Lee, Rebecca Eggebeen, Julie Sawitzke, Sara Bass, Xijun Zhang, Vivian Robles, Celia Hollis, Claudia Barajas, Edna Rath, Candy ArentzJose A. Figueroa, Diane D. Nguyen, Zeina Nahleh

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Background: Germline mutations in the BRCA1 and BRCA2 genes account for 20-25 % of inherited breast cancers and about 10 % of all breast cancer cases. Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorectomy, hormonal prevention therapy, improved screening, and targeted therapies such as PARP-inhibition. We estimate that African Americans and Hispanics are 4-5 times less likely to receive BRCA screening, despite having similar mutation frequencies as non-Jewish Caucasians, who have higher breast cancer mortality. To begin addressing this health disparity, we initiated a nationwide trial of BRCA testing of Latin American women with breast cancer. Patients were recruited through community organizations, clinics, public events, and by mail and Internet. Subjects completed the consent process and questionnaire, and provided a saliva sample by mail or in person. DNA from 120 subjects was used to sequence the entirety of BRCA1 and BRCA2 coding regions and splice sites, and validate pathogenic mutations, with a total material cost of $85/subject. Subjects ranged in age from 23 to 81 years (mean age, 51 years), 6 % had bilateral disease, 57 % were ER/PR+, 23 % HER2+, and 17 % had triple-negative disease. Results: A total of seven different predicted deleterious mutations were identified, one newly described and the rest rare. In addition, four variants of unknown effect were found. Conclusions: Application of this strategy on a larger scale could lead to improved cancer care of minority and underserved populations.

Original languageEnglish (US)
Article number50
Issue number1
StatePublished - 2015


  • Breast cancer
  • Genetic testing
  • Health disparity
  • Hispanic populations
  • Underserved populations

ASJC Scopus subject areas

  • Health Informatics
  • Computer Science Applications


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