{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:20:38Z","timestamp":1782739238037,"version":"3.54.5"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,7,31]],"date-time":"2022-07-31T00:00:00Z","timestamp":1659225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012907","name":"University of Dar es Salaam","doi-asserted-by":"publisher","award":["MCHAS\u201020131"],"award-info":[{"award-number":["MCHAS\u201020131"]}],"id":[{"id":"10.13039\/100012907","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Growing prevalence and aggressiveness of breast cancer (BC) among East African women strongly indicate that the genetic risk factor implicated in the etiology of the disease may have a key role. Germline pathogenic variants in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> (<jats:italic>BRCA1\/2<\/jats:italic>) are known to increase the lifetime risk of BC. This study investigated the prevalence and spectrum of germline single nucleotide variant\/insertion and deletion (SNV\/indel), and copy number variations (CNVs) in <jats:italic>BRCA1\/2<\/jats:italic> among Tanzanian BC patients, and evaluated the associations of identified variants with patient's socio\u2010demographic and histopathological characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One hundred BC patients were examined for <jats:italic>BRCA1\/2<\/jats:italic> variants using next\u2010generation sequencing (NGS). Sanger sequencing and multiplex ligation\u2010dependent probe amplification (MLPA) assay were performed for the confirmation of SNV\/indel and CNVs, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six germline SNV\/indel pathogenic variants were detected from six unrelated patients. Five of these variants were identified in <jats:italic>BRCA1<\/jats:italic>, and one in <jats:italic>BRCA2<\/jats:italic>. We also identified, in one patient, one variant of uncertain clinical significance (VUS). CNV was not detected in any of the BC patients. Furthermore, we found that in our cohort, <jats:italic>BRCA1\/2<\/jats:italic> variant carriers were triple\u2010negative BC patients (<jats:italic>p\u2009=<\/jats:italic>\u00a00.019).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study provides first insight into BC genetic landscape by the use of NGS in the under\u2010represented East African Tanzanian populations. Our findings support the importance of genetic risk factors in BC etiology in Tanzania and showed a relatively high overall prevalence (6%) of germline <jats:italic>BRCA1\/2<\/jats:italic> pathogenic variants in BC patients. Therefore, our results indicate that <jats:italic>BRCA1\/2<\/jats:italic> pathogenic variants may well contribute to BC incidence in Tanzania. Thus, the identification of frequent variants in <jats:italic>BRCA1\/2<\/jats:italic> genes will enable implementation of rapid, inexpensive population\u2010specific <jats:italic>BRCA1\/2<\/jats:italic> genetic testing, particularly for triple\u2010negative BC patients known for their high prevalence in Tanzania. This will, in turn, greatly contributes to provide effective therapeutic strategies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cam4.5091","type":"journal-article","created":{"date-parts":[[2022,7,31]],"date-time":"2022-07-31T12:23:51Z","timestamp":1659270231000},"page":"3395-3409","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Breast cancer in East Africa: Prevalence and spectrum of germline <scp>SNV<\/scp>\/indel and <scp>CNVs<\/scp> in <scp><i>BRCA1<\/i><\/scp> and <scp><i>BRCA2<\/i><\/scp> genes among breast cancer patients in Tanzania"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8856-8789","authenticated-orcid":false,"given":"Linus P.","family":"Rweyemamu","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Biotechnology University of Dar es Salaam  Dar es Salaam Tanzania"},{"name":"Mbeya College of Health and Allied Sciences University of Dar es Salaam  Mbeya Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4151-7711","authenticated-orcid":false,"given":"B\u00fc\u015fra K.","family":"G\u00fclta\u015flar","sequence":"additional","affiliation":[{"name":"Division of Cancer Genetics, Department of Basic Oncology, Institute of Oncology Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3878-1135","authenticated-orcid":false,"given":"Gokce","family":"Akan","sequence":"additional","affiliation":[{"name":"DESAM Research Institute Near East University  Nicosia Cyprus"},{"name":"MUHAS Genetic Laboratory, Department of Biochemistry Muhimbili University of Health and Allied Sciences  Dar es Salaam Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazima","family":"Dharsee","sequence":"additional","affiliation":[{"name":"Academic, Research and Consultancy Unit Ocean Road Cancer Institute  Dar es Salaam Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy A.","family":"Namkinga","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biotechnology University of Dar es Salaam  Dar es Salaam Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvester L.","family":"Lyantagaye","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biotechnology University of Dar es Salaam  Dar es Salaam Tanzania"},{"name":"Mbeya College of Health and Allied Sciences University of Dar es Salaam  Mbeya Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8919-0482","authenticated-orcid":false,"given":"H\u00fclya","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Division of Cancer Genetics, Department of Basic Oncology, Institute of Oncology Istanbul University  Istanbul Turkiye"},{"name":"Department of Medical Biology and Genetics, Faculty of Medicine Istanbul Arel University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1793-9220","authenticated-orcid":false,"given":"Fatmahan","family":"Atalar","sequence":"additional","affiliation":[{"name":"MUHAS Genetic Laboratory, Department of Biochemistry Muhimbili University of Health and Allied Sciences  Dar es Salaam Tanzania"},{"name":"Department of Rare Diseases, Child Health Institute Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,31]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21660"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2015-0429"},{"key":"e_1_2_11_4_1","unstructured":"KomenSG.Tanzania breast health care assessment: an assessment of breast cancer 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