{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:25:24Z","timestamp":1788449124161,"version":"build-2803163510"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,28]],"date-time":"2019-11-28T00:00:00Z","timestamp":1574899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,28]],"date-time":"2019-11-28T00:00:00Z","timestamp":1574899200000},"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":["81672887 31701087"],"award-info":[{"award-number":["81672887 31701087"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer\u2010related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by questionnaire. Clinicopathological assessments and neoadjuvant therapy\u2010related information were obtained for the proband. Blood samples were taken, and gDNA was extracted. The\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    and\n                    <jats:italic>PALB2<\/jats:italic>\n                    genes were screened using next\u2010generation sequencing by a targeted gene panel. We have successfully identified a novel, germline heterozygous, missense mutation of the gene\n                    <jats:italic>BRCA2<\/jats:italic>\n                    : c.7007G&gt;T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer. Furthermore, the risk factors for developing breast cancer in this family are discussed. Thus, genetic counselling and long\u2010term follow\u2010up should be provided for this family of breast cancer patients as well as carriers carrying a germline variant of\n                    <jats:italic>BRCA2<\/jats:italic>\n                    : c.7007G&gt;T (p.R2336L).\n                  <\/jats:p>","DOI":"10.1111\/jcmm.14861","type":"journal-article","created":{"date-parts":[[2019,11,29]],"date-time":"2019-11-29T02:27:33Z","timestamp":1574994453000},"page":"1676-1683","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Identification of a novel germline\n                    <i>BRCA2<\/i>\n                    variant in a Chinese breast cancer family"],"prefix":"10.1111","volume":"24","author":[{"given":"Jingliang","family":"Cheng","sequence":"first","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiangzhou","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery The Third Affiliated Hospital of Southern Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiewen","family":"Fu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7851-0500","authenticated-orcid":false,"given":"Md. Asaduzzaman","family":"Khan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pingping","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Pathology Hunan Cancer Hospital Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunli","family":"Wei","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiyun","family":"Deng","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Pathophysiology Hunan Normal University School of Medicine Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanchun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry School of Life Sciences &amp; the State Key Laboratory of Medical Genetics Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0708-2200","authenticated-orcid":false,"given":"Junjiang","family":"Fu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,28]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21492"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21551"},{"issue":"4","key":"e_1_2_11_4_1","first-page":"1553","article-title":"Global, regional, and national cancer incidence, mortality, years of life lost, years lived with disability, and disability\u2010adjusted life\u2010years for 29 cancer groups, 1990 to 2016: a systematic analysis for the global burden of disease study","volume":"2018","author":"Global Burden of Disease Cancer C","year":"1990","journal-title":"JAMA Oncol"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21412"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(13)70567-9"},{"key":"e_1_2_11_7_1","first-page":"466","article-title":"Female breast cancer statistics of 2010 in China: estimates based on data from 145 population\u2010based cancer registries","volume":"6","author":"Zeng H","year":"2014","journal-title":"J Thorac Dis"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.22656"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3233\/CBM-160380"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7545954"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1959"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22845"},{"key":"e_1_2_11_14_1","first-page":"72","article-title":"Relationship between microdeletion on Y chromosome and patients with idiopathic azoospermia and severe oligozoospermia in the Chinese","volume":"115","author":"Fu J","year":"2002","journal-title":"Chin Med J"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14278"},{"key":"e_1_2_11_16_1","first-page":"39","article-title":"A novel missense variant c.G644A (p. 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