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

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dc.contributor.authorRweyemamu, Linus P
dc.contributor.authorAkan, Gokce
dc.contributor.authorMbotwa, Christopher H
dc.contributor.authorDharsee, Nazima
dc.contributor.authorNamkinga, Lucy A
dc.contributor.authorLyantagaye, Sylvester L
dc.contributor.authorMselle, Ted F
dc.contributor.authorAtalar, Fatmahan
dc.date.accessioned2022-11-30T09:33:53Z
dc.date.available2022-11-30T09:33:53Z
dc.date.issued2021-12-29
dc.description.abstractThe 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.en_US
dc.description.sponsorshipThis work was supported by the University of Dar es Salaam (UDSM), Grant no: MCHAS-20131, and Tanzania Ministry of Education, Science, and Technology (MOEST) through 2018 MOEST fellowship to Linus Paul Rweyemamu.en_US
dc.identifier.citationRweyemamu LP, Akan G, Mbotwa CH, Dharsee N, Namkinga LA, Lyantagaye SL, Mselle TF, Atalar F. 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. 2021 Dec 29;47(5):1859-69.en_US
dc.identifier.doihttps://doi.org/10.4314/tjs.v47i5.27
dc.identifier.urihttp://hdl.handle.net/20.500.11810/5917
dc.language.isoenen_US
dc.publisherUniversity of Dar es Salaamen_US
dc.relation.ispartofseries47;5
dc.subjectBreast cancer, germline BRCA1 mutation, c.68_69delAG (185delAG), c.5266dupC (5382insC), Tanzania.en_US
dc.titleAbsence 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 Tanzaniaen_US
dc.typeJournal Article, Peer Revieweden_US
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