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However, the spectrum of\n                      <jats:italic>BRCA<\/jats:italic>\n                      mutations remains little explored in Tunisian patients in particular in the southern region.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We sequenced the entire coding regions of\n                      <jats:italic>BRCA1<\/jats:italic>\n                      and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      genes using next generation sequencing (NGS) in 134 selected patients with BC and\/or OC.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the 134 patients, 19 (14.17%) carried pathogenic mutations (10 are\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutation carriers and 9 are\n                      <jats:italic>BRCA2<\/jats:italic>\n                      mutation carriers) that are mainly frameshift index (76.9%). Interestingly, 5 out of the 13 variants (38.46%) were found at least twice in unrelated patients, as the c.1310-1313 delAAGA in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      and the c.5030_5033 delCTAA that has been identified in 4\/98 BC patients and in 3\/15 OC patients from unrelated families with strong history of cancer. Besides recurrent mutations, 6 variant (4 in\n                      <jats:italic>BRCA1<\/jats:italic>\n                      and 2 in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      ) were not reported previously. Furthermore, 3 unrelated patients carried the VUS c.9976A\u2009&gt;\u2009T, (K3326*) in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      exon 27.\n                      <jats:italic>BRCA<\/jats:italic>\n                      carriers correlated significantly with tumor site (p\u2009=\u20090.029) and TNBC cases (p\u2009=\u20090.008). In the groups of patients aged between 31 and 40, and 41\u201350\u00a0years,\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutations occurred more frequently in patients with OC than those with BC, and conversely\n                      <jats:italic>BRCA2<\/jats:italic>\n                      carriers are mostly affected with BC (p\u2009=\u20090.001, and p\u2009=\u20090.044 respectively).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The overall frequency of the BRCA germline mutations was 14.17% in patients with high risk of breast\/ovarian cancer. We identified recurrent mutations as the c.1310_1313 delAAGA in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      gene and the c.5030_5033 delCTAA in\n                      <jats:italic>BRCA1<\/jats:italic>\n                      gene that were found in 4% and 20% of familial BC and OC respectively. Our data will contribute in the implementation of genetic counseling and testing for families with high-risk of BC and\/or OC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12967-021-02772-y","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T08:11:47Z","timestamp":1615882307000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Novel and recurrent BRCA1\/BRCA2 germline mutations in patients with breast\/ovarian cancer: a series from the south of Tunisia"],"prefix":"10.1186","volume":"19","author":[{"given":"Dorra","family":"Ben Ayed-Guerfali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wala","family":"Ben Kridis-Rejab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihel","family":"Ammous-Boukhris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wajdi","family":"Ayadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slim","family":"Charfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afef","family":"Khanfir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahia","family":"Sellami-Boudawara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mounir","family":"Frikha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Daoud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1319-0061","authenticated-orcid":false,"given":"Raja","family":"Mokdad-Gargouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,16]]},"reference":[{"key":"2772_CR1","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1016\/S1470-2045(08)70179-7","volume":"9","author":"MP Coleman","year":"2008","unstructured":"Coleman MP, Quaresma M, Berrino F, Lutz J, de Angelis R, Capocaccia R, et al. 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