Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

Authors

  • Linus P Rweyemamu Department of Molecular Biology and Biotechnology, University of Dar es Salaam, P.O. Box 35179, Dar es Salaam, Tanzania.
  • Gokce Akan Research Center of Experimental Health Sciences (DESAM), Near East University, P.O. Box 99138, Nicosia, Cyprus.
  • Christopher H Mbotwa Mbeya College of Health and Allied Sciences, University of Dar es Salaam, P.O. Box 608, Mbeya, Tanzania.
  • Nazima Dharsee Academic, Research and Consultancy Unit, Ocean Road Cancer Institute, P.O. Box 3592, Dar es Salaam, Tanzania.
  • Lucy A Namkinga Department of Molecular Biology and Biotechnology, University of Dar es Salaam, P.O. Box 35179, Dar es Salaam, Tanzania
  • Sylvester L Lyantagaye Department of Molecular Biology and Biotechnology, University of Dar es Salaam, P.O. Box 35179, Dar es Salaam, Tanzania.
  • Ted F Mselle Department of Biochemistry, Genetic Laboratory, Muhimbili University of Health and Allied Sciences, P.O. Box 6500, Dar es Salaam, Tanzania. 4Research Center of Experimental Health Sciences (DESAM), Near East
  • Fatmahan Atalar Department of Rare Diseases, Child Health Institute, Istanbul University, Istanbul, 34093, Turkey.

DOI:

https://doi.org/10.4314/tjs.v47i5.27

Keywords:

Breast cancer, germline BRCA1 mutation, c.68_69delAG (185delAG), c.5266dupC (5382insC), Tanzania

Abstract

The germline BRCA1 c.68_69delAG (185delAG) and c.5266dupC (5382insC) mutations are associated with hormone receptor-negative breast cancer (BC).  Limited studies have examined their contribution to alarming BC incidence in Sub Saharan Africa (SSA). Our study aimed to examine the contribution of  germline BRCA1 c.68_69delAG and c.5266dupC mutations to BC incidence among hormone receptor-negative BC patients admitted to Ocean Road Cancer Institute in Tanzania. Face-to-face interviews were conducted to capture socio-demographic characteristics, anthropometric measurements, family history of cancer and reproductive information from each patient. Their  histopathological data were extracted from the hospital medical records. The germline BRCA1 founder mutations were analyzed on blood samples using Sanger sequencing technology. The patients mean age at diagnosis was 47.05 ± 12.82 years. A family history of cancer was observed in 13.6% of patients. The germline BRCA1 c.68_69delAG and c.5266dupC mutations were not detected in the study group. Our findings indicate that the germline BRCA1 c.68_69delAG and c.5266dupC mutations do not contribute to BC manifestation in hormone receptor-negative BC patients in Tanzania. Thus, screening BC patients for these mutations has no clinical relevance. Our data further suggest that the c.68_69delAG and the c.5266dupC mutations should not be considered when developing genetic testing guidelines in Tanzania.

Keywords: Breast cancer, germline BRCA1 mutation, c.68_69delAG (185delAG), c.5266dupC (5382insC), Tanzania.

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Published

31-12-2021

How to Cite

Rweyemamu, L. P. ., Akan, G., Mbotwa, C. H., Dharsee, N. ., Namkinga, L. A. ., Lyantagaye, S. L. ., Mselle, T. F. ., & Atalar, F. . (2021). Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania. Tanzania Journal of Science, 47(5), 1824–1834. https://doi.org/10.4314/tjs.v47i5.27

Issue

Vol. 47 No. 5 (2021)

Section

Articles