Annals of Oncology Advance Access published online on June 2, 2009
Annals of Oncology, doi:10.1093/annonc/mdp051
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Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups
,*
1 Department of Radiation Oncology, UMDNJ-RWJMS and Cancer Institute of New Jersey, New Brunswick, NJ, USA
2 Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
3 Section of Medical Oncology, Department of Medicine, Yale University School of Medicine
4 Section of Medical Genetics, Cancer Institute of New Jersey
5 Department of Medical Genetics, Yale University School of Medicine
6 Department of Surgery, Soonchunhyang University College of Medicine, Seoul, South Korea
7 Section of Medical Oncology, Department of Medicine, UMDNJ-RWJMS and Cancer Institute of New Jersey
8 Department of Therapeutic Radiology, Yale University School of Medicine
* Correspondence to: Dr B. G. Haffty, Department of Radiation Oncology, Cancer Institute of New Jersey, Robert Wood Johnson Medical School-UMDNJ, 195 Little Albany Street, New Brunswick, NJ 08901, USA. Tel: +1-732-235-5203; E-mail: hafftybg{at}umdnj.edu
Background: Despite significant differences in age of onset and incidence of breast cancer between Caucasian (CA), African-American (AA) and Korean (KO) women, little is known about differences in BRCA1/2 mutations in these populations. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations and the association between BRCA1/2 mutation status and secondary malignancies among young women with breast cancer in these three racially diverse groups.
Methods: Patients presenting to our breast cancer follow-up clinics selected solely on having a known breast cancer diagnosis at a young age (YBC defined as age <45 years at diagnosis) were invited to participate in this study. A total of 333 eligible women, 166 CA, 66 AA and 101 KO underwent complete sequencing of BRCA1/2 genes. Family history (FH) was classified as negative, moderate or strong. BRCA1/2 status was classified as wild type (WT), variant of uncertain significance (VUS) or deleterious (DEL).
Results: DEL across these three racially diverse populations of YBC were nearly identical: CA 17%, AA 14% and KO 14%. The type of DEL differed with AA having more frequent mutations in BRCA2, compared with CA and KO. VUS were predominantly in BRCA2 and AA had markedly higher frequency of VUS (38%) compared with CA (10%) and KO (12%). At 10-year follow-up from the time of initial diagnosis of breast cancer, the risk of secondary malignancies was similar among WT (14%) and VUS (16%), but markedly higher among DEL (39%).
Conclusions: In these YBC, the frequency of DEL in BRCA1/2 is remarkably similar among the racially diverse groups at 14%–17%. VUS is more common in AA, but aligns closely with WT in risk of second cancers, age of onset and FH.
BRCA1, BRCA2, breast cancer, genetics, race
These authors contributed equally to this work. Received for publication December 6, 2008. Revision received January 26, 2009. Accepted for publication February 9, 2009.
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