{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:32:25Z","timestamp":1789648345529,"version":"4.0.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations are not uncommon in breast cancer patients. Western studies show that such mutations are more prevalent among younger patients. This study evaluates the prevalence of germline mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> among breast cancer patients diagnosed at age 40 or younger in Jordan. Blood samples of patients with breast cancer diagnosed at age 40\u00a0years or younger were obtained for DNA extraction and <jats:italic>BRCA<\/jats:italic> sequencing. Mutations were classified as benign\/likely benign (non-carrier), pathogenic\/likely pathogenic variant (carrier) and variant of uncertain significance (VUS). Genetic testing and counseling were completed on 616 eligible patients. Among the whole group, 75 (12.2%) had pathogenic or likely pathogenic variants; two of the <jats:italic>BRCA2<\/jats:italic> mutations were novel. In multivariate analysis, triple-negative disease (Odd Ratio [OR]: 5.37; 95% CI 2.88\u201310.02, P\u2009&lt;\u20090.0001), breast cancer in\u2009\u2265\u20092 family members (OR: 4.44; 95% CI 2.52\u20137.84, P\u2009&lt;\u20090.0001), and a personal history\u2009\u2265\u20092 primary breast cancers (OR: 3.43; 95% CI 1.62\u20137.24, P\u2009=\u20090.001) were associated with higher mutation rates. In conclusion, among young Jordanian patients with breast cancer, mutation rates are significantly higher in patients with triple-negative disease, personal history of breast cancer and those with two or more close relatives with breast cancer.<\/jats:p>","DOI":"10.1038\/s41598-021-94403-1","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T10:07:53Z","timestamp":1626862073000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan"],"prefix":"10.1038","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2833-6051","authenticated-orcid":false,"given":"Hikmat","family":"Abdel-Razeq","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Abujamous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Abunasser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Edaily","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rayan","family":"Bater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,21]]},"reference":[{"key":"94403_CR1","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1158\/1055-9965.EPI-16-0858","volume":"26","author":"L Torre","year":"2017","unstructured":"Torre, L., Islami, F., Siegel, R., Ward, E. & Jemal, A. 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