Supporting data for "Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2".

Germline mutations in the BRCA1 and BRCA2 genes account for 20 to 25% of inherited breast cancer 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 to 5 times less likely to receive BRCA screening, despite having similar mutation frequencies as non-Jewish Caucasians and these populations have higher breast cancer mortality. To begin addressing this health disparity, we initiated a nationwide trial of BRCA testing of Latinas with breast cancer. Patients were recruited through community organizations, clinics, public events and through the 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 entire BRCA1 and BRCA2 coding regions and splice sites, and validation of pathogenic mutations with a total material cost of $85/subject. Subjects ranged in age from 23-81 years (mean age of 51 years), 6% had bilateral disease, 57% were ER/PR+, 23% HER2+, and 17% had triple-negative disease.