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

• Published in: Journal of community genetics 2014-04, Vol.5 (2), p.157-165
• Main Authors: Pal, Tuya, Bonner, Devon, Cragun, Deborah, Johnson, Sharland, Akbari, Mohammad, Servais, Lily, Narod, Steven, Vadaparampil, Susan
• Format: Article
• Language: English
• Subjects: Biomedical and Life Sciences; Biomedicine; Epidemiology; Gene Function; Gene Therapy; Human Genetics; Original; Original Article; Public Health
• ISSN: 1868-310X; 1868-6001
• DOI: 10.1007/s12687-013-0166-9

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.