{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:11:53Z","timestamp":1783930313972,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T00:00:00Z","timestamp":1554768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T00:00:00Z","timestamp":1554768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81602335"],"award-info":[{"award-number":["81602335"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Breast cancer is the most common cancer among women worldwide. Here, we report the prevalence of\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutations in patients with high\u2010risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutations in Chinese patients with hereditary breast cancer.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      According to the criteria, index patients from a total of 245 independent families were initially recruited. All 49 exons of\n                      <jats:italic>BRCA1<\/jats:italic>\n                      and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      and adjacent noncoding regions were screened for mutations based on next\u2010generation sequencing from collected saliva.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We detected 17\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      variants in 18 of 216 (8.3%) index patients with high\u2010risk breast cancer. Among these, seven mutations were novel, including four\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutations (c.123_124delCAinsAT, c.5093_5096delCTAA, c.5396\u20102A&gt;G, and c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG), and three\n                      <jats:italic>BRCA2<\/jats:italic>\n                      mutations (c.304A&gt;T, c.7552_7553insT, and c.9548_9549insA). The\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      variants were identified in 14% (8\/57) of the patients with triple\u2010negative breast cancer and in 6.3% (10\/159) of the patients with non\u2010triple\u2010negative breast cancer. There was no significant difference between the two groups (\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a00.07). A higher frequency for\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutations was observed in patients with triple\u2010negative breast cancer than in those with non\u2010triple\u2010negative breast cancer (12.3% vs. 2.5%,\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a00.004). The frequencies of the\n                      <jats:italic>BRCA2<\/jats:italic>\n                      mutations were not significantly different between patients with triple\u2010negative breast cancer and those with non\u2010triple\u2010negative breast cancer (1.8% vs. 3.8%,\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a00.46).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We found that patients with triple\u2010negative breast cancer had a higher frequency of\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutations than those with non\u2010triple\u2010negative breast cancer. In this study, no significant associations between the\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutation status and age, family history of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer, number of primary lesions, tumor size, or lymph node metastasis were observed.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.677","type":"journal-article","created":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T21:24:24Z","timestamp":1554845064000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Prevalence of\n                    <i>BRCA1<\/i>\n                    and\n                    <i>BRCA2<\/i>\n                    gene mutations in Chinese patients with high\u2010risk breast cancer"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1429-4516","authenticated-orcid":false,"given":"Xiaozhen","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Breast Surgery The First Hospital of Jilin University Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haimeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery The First Hospital of Jilin University Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Maimaitiaili","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery The First Hospital of Jilin University Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery The First Hospital of Jilin University Changchun 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