Journal Article

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

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

2015

Overview

Abstract 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.

• Publisher: Oxford University Press,BioMed Central
• Subject: Bioinformatics / Biomedical and Life Sciences / BRCA1 protein / BRCA2 protein / Breast cancer / Breast Neoplasms - genetics / Computational Biology/Bioinformatics / Computer Appl. in Life Sciences / Data Mining and Knowledge Discovery / ErbB-2 protein / Female / Genes, BRCA1 / Genes, BRCA2 / Health disparities / Hispanic or Latino - genetics / Human Genetics / Humans / Life Sciences / Mutation / Nucleotide sequence / Ovariectomy / Proteomics / Saliva / Therapeutic applications