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Research Letter
May 17, 2017

Breast Cancer Genetic Testing Among African Patients With Breast CancerDeoxyribonucleic Acid Extraction From Tumor Tissue and International Multidisciplinary Partnerships

Author Affiliations
  • 1Department of Oncology, Komfo Anokye Teaching Hospital, Kumasi, Ghana
  • 2Department of Molecular Medicine, School of Medical Sciences-Kwame Nkrumah, University of Science and Technology, Kumasi, Ghana
  • 3Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana
  • 4International Center for the Study of Breast Cancer Subtypes, Detroit, Michigan
JAMA Surg. Published online May 17, 2017. doi:10.1001/jamasurg.2017.1090

Population-based incidence rates of breast cancers that yield negative testing results for estrogen receptors, progesterone receptors, and human epidermal growth factor receptor 2 biomarkers (triple-negative breast cancer [TNBC]) are 2-fold higher among African American women compared with white American women, and TNBC is a risk factor for breast cancer gene 1 (BRCA1) mutation carrier status that is independent of an individual’s family history. These patterns, coupled with data revealing an increased frequency of TNBC among western, sub-Saharan Africans, suggest that African ancestry is associated with hereditary susceptibility for TNBC. Resources for collecting and analyzing germline DNA from blood and/or saliva specimens to evaluate for BRCA mutations are limited in low- and middle-income countries in Africa, and transporting specimens to laboratories in more affluent countries is challenging. Recent studies suggest that DNA extraction from formalin-fixed, paraffin-embedded tumor specimens is feasible and accurate,1,2 thereby providing a readily available resource for genetic studies. We report the results from a study motivated by the educational and research efforts of an international multidisciplinary breast cancer partnership. Selected BRCA mutations were analyzed among Ghanaian patients with breast cancer, exploring the effectiveness of collaborations between surgeons, oncologists, pathologists, and geneticists in assessing the genetics of breast cancer in low- and middle-income countries in Africa.

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