{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:16:53Z","timestamp":1791919013988,"version":"4.3.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["OMICS: A Journal of Integrative Biology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>\n                    Telomeres, and telomere length in particular, have broad significance for genome biology and thus are prime research targets for complex diseases such as cancers. In this context,\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    gene mutations have been implicated in relationship to telomere length, and breast cancer susceptibility. Yet, the linkages among human genetic variation and telomere length in persons with high hereditary cancer risk are inadequately mapped. We report here original findings in 113 unrelated women at high hereditary risk for breast cancer, who were characterized for the\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    mutations using next-generation sequencing. Thirty-one\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    and 21\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    mutations were identified in 47 subjects (41.6%). The women with a mutation in\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    and\/or\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    genes had, on average, 12% shorter telomere compared to women with no\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    or\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    mutation (\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009=\u20090.0139). Moreover, the association between telomere length and\n                    <jats:italic toggle=\"yes\">BRCA<\/jats:italic>\n                    mutation status held up upon stratified analysis in those with or without a breast cancer diagnosis. We also indentified two rare mutations, c.536_537insT and c.10078A&gt;G, and a novel mutation c.8680C&gt;G in\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    that was studied further by homology modeling of the DNA binding tower domain of\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    and the structure of the protein. These data collectively lend evidence to the idea that\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    mutations play a role in telomere length in women at high hereditary risk for breast cancer. Further clinical and diagnostics discovery research on\n                    <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                    variation, telomere length, and breast cancer mechanistic linkages are called for in larger study samples.\n                  <\/jats:p>","DOI":"10.1089\/omi.2019.0103","type":"journal-article","created":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T17:02:32Z","timestamp":1576688552000},"page":"5-15","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Next-Generation Sequencing Identifies\n                    <i>BRCA1<\/i>\n                    and\/or\n                    <i>BRCA2<\/i>\n                    Mutations in Women at High Hereditary Risk for Breast Cancer with Shorter Telomere Length"],"prefix":"10.1177","volume":"24","author":[{"given":"\u0130rem","family":"Peker Ey\u00fcbo\u011flu","sequence":"first","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcven","family":"Yenmi\u015f","sequence":"additional","affiliation":[{"name":"Biruni University Medical School, Department of Medical Biology and Genetics, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif Naz","family":"Bing\u00f6l","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, Institute of Pure and Applied Sciences, Marmara University, Kadikoy, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eirin","family":"Y\u00fcksel","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Ac\u0131badem Mehmet Ali Ayd\u0131nlar University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Tokat","sequence":"additional","affiliation":[{"name":"Department of Pathology, Subdivision of Cytopathology, Acibadem University, Istanbul, Turkey."},{"name":"Acibadem Research Institute of Senology, Ac\u0131badem Mehmet Ali Ayd\u0131nlar University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pemra","family":"\u00d6zbek","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, Faculty of Engineering, Marmara University, Kadikoy, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6k\u00e7e","family":"G\u00fcll\u00fc Amuran","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cengiz","family":"Yak\u0131c\u0131er","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Ac\u0131badem Mehmet Ali Ayd\u0131nlar University, Istanbul, Turkey."},{"name":"Acibadem Research Institute of Senology, Ac\u0131badem Mehmet Ali Ayd\u0131nlar University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Akkiprik","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,1,10]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.1943"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.025825"},{"key":"e_1_3_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-014-3246-6"},{"key":"e_1_3_4_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aab3389"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1506"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcc.540040211"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000167820"},{"key":"e_1_3_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21414"},{"key":"e_1_3_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn1027"},{"key":"e_1_3_4_11_1","first-page":"1","article-title":"Telomere measurement by quantitative PCR","volume":"30","author":"Cawthon RM","year":"2002","unstructured":"Cawthon RM. 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