title: Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.
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.
authors.affiliation: Laboratory of Experimental Immunology, National Cancer Institute, Frederick, MD 21702 USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Dean
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Boland
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Meredith
authors.initials: M
authors.lastname: Yeager
authors.affiliation: Laboratory of Experimental Immunology, National Cancer Institute, Frederick, MD 21702 USA.
authors.forename: Kate M
authors.initials: KM
authors.lastname: Im
authors.affiliation: Laboratory of Experimental Immunology, National Cancer Institute, Frederick, MD 21702 USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Garland
authors.affiliation: Laboratory of Experimental Immunology, National Cancer Institute, Frederick, MD 21702 USA.
authors.forename: Maria
authors.initials: M
authors.lastname: Rodriguez-Herrera
authors.affiliation: Laboratory of Experimental Immunology, National Cancer Institute, Frederick, MD 21702 USA.
authors.forename: Mylen
authors.initials: M
authors.lastname: Perez
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Jason
authors.initials: J
authors.lastname: Mitchell
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: David
authors.initials: D
authors.lastname: Roberson
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Kristine
authors.initials: K
authors.lastname: Jones
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Hyo Jung
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Eggebeen
authors.affiliation: Basic Science Program, Leidos Biomedical Research, Inc., Frederick, MD USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Sawitzke
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Sara
authors.initials: S
authors.lastname: Bass
authors.affiliation: Cancer Genetics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD USA.
authors.forename: Xijun
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Nueva Vida Richmond, Richmond, VA USA.
authors.forename: Vivian
authors.initials: V
authors.lastname: Robles
authors.affiliation: Latino Community Development Agency, Oklahoma City, OK USA.
authors.forename: Celia
authors.initials: C
authors.lastname: Hollis
authors.affiliation: Latino Community Development Agency, Oklahoma City, OK USA.
authors.forename: Claudia
authors.initials: C
authors.lastname: Barajas
authors.affiliation: Texas Tech University Health Sciences Center, El Paso, TX USA.
authors.forename: Edna
authors.initials: E
authors.lastname: Rath
authors.affiliation: Texas Tech University Health Sciences Center, Lubbock, TX USA.
authors.forename: Candy
authors.initials: C
authors.lastname: Arentz
authors.affiliation: Texas Tech University Health Sciences Center, Lubbock, TX USA.
authors.forename: Jose A
authors.initials: JA
authors.lastname: Figueroa
authors.affiliation: Texas Tech University Health Sciences Center, Lubbock, TX USA.
authors.forename: Diane D
authors.initials: DD
authors.lastname: Nguyen
authors.affiliation: Texas Tech University Health Sciences Center, El Paso, TX USA.
authors.forename: Zeina
authors.initials: Z
authors.lastname: Nahleh
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans
keywords: Breast cancer; Genetic testing; Health disparity; Hispanic populations; Underserved populations