Document Detail

Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.
MedLine Citation:
PMID:  23320992     Owner:  NLM     Status:  MEDLINE    
Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a sample of Black women with early onset breast cancer, we evaluated BRCA mutations and explored personal and system-level clinical characteristics. Black women diagnosed with invasive breast cancer (age ≤50) were recruited through the state cancer registry. Participants completed a questionnaire, genetic counseling and BRCA testing. Of the 48 women who consented to study participation, 46 provided a usable biologic specimen for BRCA testing. The overall prevalence of BRCA mutations and variants of uncertain significance (VUS) in participants was 6.5% and 34.8%, respectively. Of these, only 14 were referred for genetic counseling prior to study enrollment. Overall, those participants who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancer (p = 0.024) and a higher household income (p = 0.009). BRCA mutation prevalence and the high prevalence of VUS in participants are consistent with prior studies. Furthermore, clinical factors such as family history and financial means may influence type of surgery recommended and chosen, at both the provider and patient level, respectively. Finally, the limited number of patients referred for genetic counseling prior to surgical treatment for breast cancer may represent a missed clinical opportunity to inform surgical decisions.
Tuya Pal; Devon Bonner; Jongphil Kim; Alvaro N A Monteiro; Lisa Kessler; Robert Royer; Steven A Narod; Susan T Vadaparampil
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-16
Journal Detail:
Title:  The breast journal     Volume:  19     ISSN:  1524-4741     ISO Abbreviation:  Breast J     Publication Date:    2013 Mar-Apr
Date Detail:
Created Date:  2013-03-05     Completed Date:  2013-09-20     Revised Date:  2013-11-04    
Medline Journal Info:
Nlm Unique ID:  9505539     Medline TA:  Breast J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  189-92     Citation Subset:  IM    
Copyright Information:
© 2013 Wiley Periodicals, Inc.
Division of Population Sciences, Moffitt Cancer Center, Tampa, Florida 33612, USA.
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MeSH Terms
African Americans / genetics*
Age of Onset
BRCA1 Protein / genetics*
BRCA2 Protein / genetics*
Breast Neoplasms / epidemiology*,  genetics*,  surgery
Genetic Counseling
Genetic Predisposition to Disease
Middle Aged
Ovarian Neoplasms / epidemiology,  genetics
Reg. No./Substance:
0/BRCA1 Protein; 0/BRCA1 protein, human; 0/BRCA2 Protein; 0/BRCA2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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