A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
BACKGROUND
Black women are disproportionately affected with triple-negative breast cancer and have relatively poor survival. To the authors' knowledge, it is not known to what extent differences in the clinical presentation of breast cancer between non-Hispanic white women and black women can be accounted for by the presence of mutations in the BRCA1 and BRCA2 genes. The authors sought to evaluate the frequency of BRCA pathogenic variants in a population-based sample of young black women with breast cancer.


METHODS
Black women diagnosed with invasive breast cancer at age ≤50 years from 2009 to 2012 were recruited to the study through the Florida Cancer Registry. Participants underwent genetic counseling, completed a study questionnaire, and consented to release of their medical records. Saliva specimens were collected for BRCA sequencing and large rearrangement testing through multiplex ligation-dependent probe amplification.


RESULTS
A DNA sample was evaluated for 396 women, 49 of whom (12.4%) had a mutation in BRCA1 or BRCA2. Eight recurrent mutations accounted for 49% of all pathogenic variants.


CONCLUSIONS
To the authors' knowledge, the prevalence of BRCA mutations among the Florida-based sample of young black women with breast cancer in the current study exceeds that previously reported for non-Hispanic white women. It is appropriate to recommend BRCA testing in all young black women with invasive breast cancer.
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Tuya
T
Pal
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Devon
D
Bonner
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Deborah
D
Cragun
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Alvaro N A
AN
Monteiro
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Catherine
C
Phelan
DNA Direct Inc, San Francisco, California.
Lily
L
Servais
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Jongphil
J
Kim
Women's College Research Institute, Toronto, Ontario, Canada.
Steven A
SA
Narod
Women's College Research Institute, Toronto, Ontario, Canada.
Mohammad R
MR
Akbari
Division of Population Sciences, Department of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida.
Susan T
ST
Vadaparampil
D000328:Adult; D001741:Black or African American / Q000235:genetics*; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D055088:Early Detection of Cancer; D005260:Female; D005431:Florida; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009361:Neoplasm Invasiveness; D012042:Registries; D017422:Sequence Analysis, DNA / Q000379:methods; D055815:Young Adult
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
BRCA1; BRCA2; black women; breast cancer; disparities