{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T18:48:39Z","timestamp":1764960519159,"version":"3.46.0"},"reference-count":43,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Breast cancer is the top cause of cancer mortality among women in the world and the second in Africa. The aims of this study were to: i) identify women with breast nodules suspected of having breast cancer ii) sequence the\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    genes and iii) screen mutations. From 2015 to 2016, 112 women aged from 35 to 44 years, who had come for consultation in the gynecology\/obstetrics and the oncology department of the University Hospital Yalgado Ouedraogo, voluntarily agreed to participate to this study. Whole blood was collected from those with mammary nodules. The genomic DNA was extracted using Qiagen kit. FAST KAPA was used for genomic DNA amplification and the purified PCR products were analyzed by direct sequencing using Big Dye v1.1 and ABI 3730 automated sequencer. Nucleotides substitutions were determined. We identified\n                    <jats:italic>BRCA1<\/jats:italic>\n                    SNPs rs1799966, rs799917, rs16942, rs16941, rs2227945, and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    SNPs rs169547, rs4986860. These identified variants are found mostly in cases of benign tumors of breast or ovarian cancer with familial history of breast cancer. This study in Burkina-Faso, is the basis for improved and more specific genetic testing, and suggests that additional genes contributing to an increased risk of breast cancer should be analyzed.\n                  <\/jats:p>","DOI":"10.1515\/bmc-2019-0015","type":"journal-article","created":{"date-parts":[[2019,6,16]],"date-time":"2019-06-16T06:36:26Z","timestamp":1560666986000},"page":"120-127","source":"Crossref","is-referenced-by-count":11,"title":["Identification of\n                    <i>BRCA1\/2<\/i>\n                    p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso"],"prefix":"10.1515","volume":"10","author":[{"given":"Tani","family":"Sagna","sequence":"first","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Bonora","sequence":"additional","affiliation":[{"name":"U.O. Genetica Medica Dipartimento di Scienze Ginecologiche, Ostetriche, Pediatriche, Policlinico S. Orsola-Malpighi , Bologna , 902 D 40138 , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Nabonswind\u00e9 Lamoussa","family":"Ouedraogo","sequence":"additional","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Fusco","sequence":"additional","affiliation":[{"name":"U.O. Genetica Medica Dipartimento di Scienze Ginecologiche, Ostetriche, Pediatriche, Policlinico S. Orsola-Malpighi , Bologna , 902 D 40138 , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdou Azaque","family":"Zoure","sequence":"additional","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"},{"name":"Institut de Recherche en Sciences de la Sant\u00e9 (IRSS) , Ouagadougou , 03 BP 7192 , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyrille","family":"Bisseye","sequence":"additional","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"},{"name":"D\u00e9partement de Biologie, Facult\u00e9 des Sciences Universit\u00e9 des Sciences et Techniques de Masuku (USTM) , BP 934 de Masuku , Gabon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florencia","family":"Djigma","sequence":"additional","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques Gilbert","family":"Kafando","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint Camille , Ouagadougou , 09 BP 444 , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayi","family":"Zongo","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint Camille , Ouagadougou , 09 BP 444 , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoenabo","family":"Douamba","sequence":"additional","affiliation":[{"name":"Centre de Recherche Biomol\u00e9culaire Pietro Annigoni (CERBA)\/LABIOGENE, Universit\u00e9 de Ouagadougou , 01 BP 364 , Ouagadougou , Burkina Faso"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorcas","family":"Obiri-Yeboah","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, School of Medical Sciences, University of Cape Coast , P. O. Box 5007 , Cape Coast , Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Turchetti","sequence":"additional","affiliation":[{"name":"U.O. Genetica Medica Dipartimento di Scienze Ginecologiche, Ostetriche, Pediatriche, Policlinico S. 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