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TY  - JOUR
AU  - Rweyemamu, Linus P 
AU  - Akan, Gokce
AU  - Mbotwa, Christopher H
AU  - Dharsee, Nazima 
AU  - Namkinga, Lucy A 
AU  - Lyantagaye, Sylvester L 
AU  - Mselle, Ted F 
AU  - Atalar, Fatmahan 
PY  - 2021/12/31
Y2  - 2025/07/17
TI  - 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
JF  - Tanzania Journal of Science
JA  - Tanz. J. Sci.
VL  - 47
IS  - 5
SE  - Articles
DO  - 10.4314/tjs.v47i5.27
UR  - https://tjs.udsm.ac.tz/index.php/tjs/article/view/968
SP  - 1824-1834
AB  - &lt;p&gt;The germline &lt;em&gt;BRCA1&lt;/em&gt; c.68_69delAG (185delAG) and c.5266dupC (5382insC) mutations are associated with hormone receptor-negative breast cancer (BC).&amp;nbsp; Limited studies have examined their contribution to alarming BC incidence in Sub Saharan Africa (SSA). Our study aimed to examine the contribution of &amp;nbsp;germline &lt;em&gt;BRCA1&lt;/em&gt; 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 &amp;nbsp;histopathological data were extracted from the hospital medical records. The germline &lt;em&gt;BRCA1&lt;/em&gt; 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 &lt;em&gt;BRCA1&lt;/em&gt; c.68_69delAG and c.5266dupC mutations were not detected in the study group. Our findings indicate that the germline &lt;em&gt;BRCA1&lt;/em&gt; 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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Keywords&lt;/strong&gt;: Breast cancer, germline &lt;em&gt;BRCA1&lt;/em&gt; mutation, c.68_69delAG (185delAG), c.5266dupC (5382insC), Tanzania.&lt;/p&gt;
ER  -