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A Perfect Storm: Tumor biology and genomics

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These results in African American patients highlight the need for further study of breast cancer genomics in minority populations. However, Armstrong et al.15 illuminated the existence of racial/ethnic disparities in patterns of referral to cancer risk clinics. In their study, African American women with a family history of breast or ovarian cancer were significantly less likely to undergo genetic counseling for BRCA1/2 testing than were white women with this family history. The results of this study were noteworthy for the magnitude of the disparity, with white women having almost five times greater odds of undergoing this clinically important evaluation. More than two decades after BRCA1 and BRCA2 genes were identified, larger studies are still needed in diverse populations to derive true estimates of the burden of mutations in both genes in underserved and understudied populations.

Although these differences in tumor biology and genomics tell part of the mortality disparity story, there is more to be told. In a study of African American and white patients in South Carolina, Adams et al.16 determined survival rates by ethnicity that were adjusted for disease stage and other prognostic characteristics. After they controlled for age, stage, ER, and HER2 expression as well as insurance status, African American women still had a twofold excess risk of death from breast cancer. Thus, in addition to differences in the innate characteristics of the breast tumors, racial differences in patterns of care for women with breast cancer must be considered in unraveling the observed disparity in mortality. The third installment of this series will discuss the second element of the perfect storm – patterns of care.

Other installments of this column can be found in the Related Content box.

 1. Daly B, Olopade OI. A perfect storm: How tumor biology, genomics, and health care delivery patterns collide to create a racial survival disparity in breast cancer and proposed interventions for change. CA Cancer J Clin. 2015;65(3):221-238.

 2. Carey LA, Perou CM, Livasy CA, et al. Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA. 2006;295(21):2492-502.

 3. Kurian AW, Fish K, Shema SJ, Clarke CA. Lifetime risks of specific breast cancer subtypes among women in four racial/ethnic groups. Breast Cancer Res. 2010;12(6):R99.

 4. DeSantis CE, Fedewa SA, Goding Sauer A, Kramer JL, Smith RA, Jemal A. Breast cancer statistics, 2015: Convergence of incidence rates between black and white women. CA Cancer J Clin. 2015 Oct 29. doi: 10.3322/caac.21320. [Epub ahead of print]

 5. Setiawan VW, Monroe KR, Wilkens LR, Kolonel LN, Pike MC, Henderson BE. Breast cancer risk factors defined by estrogen and progesterone receptor status: the multiethnic cohort study. Am J Epidemiol. 2009;169(10):1251-9.

 6. Bauer KR, Brown M, Cress RD, Parise CA, Caggiano V. Descriptive analysis of estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, and HER2-negative invasive breast cancer, the so-called triple-negative phenotype: a population-based study from the California cancer Registry. Cancer. 2007;109(9):1721-8.

 7. Ray M, Polite BN. Triple-negative breast cancers: a view from 10,000 feet. Cancer J. 2010;16(1):17-22.

 8. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77(11):2318-24.

 9. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1993;52(4):678-701.

 10. Polite BN, Olopade OI. Breast cancer and race: a rising tide does not lift all boats equally. Perspect Biol Med. 2005;48(1 Suppl):S166-75.

 11. Nanda R, Schumm LP, Cummings S, et al. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA. 2005;294(15):1925-33.

 12. John EM, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 2007;298(24):2869-76.

 13. Fackenthal JD, Zhang J, Zhang B, et al. High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Int J Cancer. 2012;131(5):1114-23.

 14. Donenberg T, Lunn J, Curling D, et al. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat. 2011;125(2):591-6.

 15. Armstrong K, Micco E, Carney A, Stopfer J, Putt M. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA. 2005;293(14):1729-36.

 16. Adams SA, Butler WM, Fulton J, et al. Racial disparities in breast cancer mortality in a multi-ethnic cohort in the Southeast. Cancer. 2012;118(10):2693-9.

Dr. Bobby Daly

Bobby Daly, MD, MBA, is the chief fellow in the section of hematology/oncology at the University of Chicago Medicine. His clinical focus is breast and thoracic oncology, and his research focus is health services. Specifically, Dr. Daly researches disparities in oncology care delivery, oncology health care utilization, aggressive end-of-life oncology care, and oncology payment models. He received his MD and MBA from Harvard Medical School and Harvard Business School, both in Boston, and a BA in Economics and History from Stanford (Calif.) University. He was the recipient of the Dean’s Award at Harvard Medical and Business Schools.