{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:37:57Z","timestamp":1753871877264,"version":"3.41.2"},"reference-count":27,"publisher":"Portland Press Ltd.","issue":"4","license":[{"start":{"date-parts":[[2019,9,9]],"date-time":"2019-09-09T00:00:00Z","timestamp":1567987200000},"content-version":"vor","delay-in-days":161,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Breast cancer (BC) is the most common female cancer found worldwide. It is responsible for 25% of all cancer patients in females. Hereditary BC accounts for about 5\u201310% of all BC cases. The breast cancer 1 gene (BRCA1) and the breast cancer 2 gene (BRCA2) are the two most-studied BC susceptibility genes. Genetic testing for disease-causing mutations in BRCA1, BRCA2, and other BC susceptibility genes is strongly recommended for members of families having a BC family history. The present study found a heterozygous c.5722_5723del mutation in the BRCA2 exon 11 of a large Han-Chinese BC family using whole exome sequencing and Sanger sequencing. It may cause DNA double-strand breaks repair dysfunction by disturbing homologous recombination, further resulting in BC. The study findings may help supplement and further improve genetic testing strategies and BC risk estimation methodologies in China.<\/jats:p>","DOI":"10.1042\/bsr20182471","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T11:55:25Z","timestamp":1554206125000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer"],"prefix":"10.1042","volume":"39","author":[{"given":"Yi","family":"Guo","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Medical Information, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaorong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal Surgery, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaihong","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of General Surgery, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shizhou","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3240-4352","authenticated-orcid":false,"given":"Hao","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-0669","authenticated-orcid":false,"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2019,4,30]]},"reference":[{"key":"2019102613572532700_B1","doi-asserted-by":"publisher","first-page":"87","DOI":"10.3322\/caac.21262","article-title":"Global cancer statistics, 2012","volume":"65","author":"Torre","year":"2015","journal-title":"CA Cancer J. 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