Journal of Community Genetics

, Volume 5, Issue 2, pp 157–165

BRCA sequencing and large rearrangement testing in young Black women with breast cancer

  • Tuya Pal
  • Devon Bonner
  • Deborah Cragun
  • Sharland Johnson
  • Mohammad Akbari
  • Lily Servais
  • Steven Narod
  • Susan Vadaparampil
Original Article

DOI: 10.1007/s12687-013-0166-9

Cite this article as:
Pal, T., Bonner, D., Cragun, D. et al. J Community Genet (2014) 5: 157. doi:10.1007/s12687-013-0166-9

Abstract

Young Black women in the United States are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a cancer registry-based sample of young Black women with breast cancer, we evaluated: (1) the prevalence of BRCA mutations detected through full gene sequencing and large rearrangements testing and (2) proportions that accessed genetic services pre-dating study enrollment. Black women diagnosed with invasive breast cancer ≤age 50 years in 2009–2012 were recruited through the Florida Cancer Registry. Participants completed genetic counseling, a study questionnaire, and consent for medical record release. Saliva specimens were collected for BRCA testing. Overall, 13 participants (9 %) had BRCA mutations detected (including 11 through full gene sequencing and two through large rearrangements testing). One of these large rearrangements, BRCA1 (delExon8), was identified in a participant who had previously tested negative on clinical comprehensive BRCAnalysis that was performed prior to undergoing a lumpectomy. Although all 144 participants met national criteria for referral for cancer genetic risk assessment, 61 (42 %) were referred for genetic counseling and/or had genetic testing preceding study enrollment, and only 20 (14 %) received genetic counseling. Our findings emphasize the importance of large rearrangements testing to increase detection of deleterious BRCA mutations in young Black women with breast cancer. The registry-based design of our study increase the generalizability of findings compared with efforts focused on clinic-based populations. Furthermore, results suggest efforts are needed to improve access to genetic counseling and testing.

Keywords

BRCA testing Genetic counseling Black women Breast cancer Cancer registry 

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Tuya Pal
    • 1
    • 4
  • Devon Bonner
    • 1
  • Deborah Cragun
    • 1
  • Sharland Johnson
    • 1
  • Mohammad Akbari
    • 2
  • Lily Servais
    • 3
  • Steven Narod
    • 2
  • Susan Vadaparampil
    • 1
  1. 1.Population SciencesMoffitt Cancer CenterTampaUSA
  2. 2.Women’s College Research InstituteTorontoCanada
  3. 3.DNA Direct, IncSan FranciscoUSA
  4. 4.Department of Cancer EpidemiologyMoffitt Cancer Center MRC-CANCONTTampaUSA

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