{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:28:00Z","timestamp":1789165680949,"version":"build-2803163510"},"reference-count":42,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T00:00:00Z","timestamp":1690588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T00:00:00Z","timestamp":1690588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncology"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> BRCA1\/2 germline mutations are the most well-known genetic determinants for breast cancer. However, the distribution of germline mutations in non-BRCA1\/2 cancer susceptibility genes in Chinese breast cancer patients is unclear. The association between clinical characteristics and germline mutations remains to be explored. <b><i>Methods:<\/i><\/b> Consecutive breast cancer patients from Peking University People\u2019s Hospital were enrolled. Clinical characteristics were collected, and next-generation sequencing was performed using blood samples of participants to identify pathogenic\/likely pathogenic (P\/LP) germline mutations in 32 cancer susceptibility genes including homologous recombination repair (HRR) genes. <b><i>Results:<\/i><\/b> A total of 885 breast cancer patients underwent the detection of germline mutations. 107 P\/LP germline mutations of 17 genes were identified in 116 breast cancer patients including 79 (8.9%) in BRCA1\/2 and 40 (4.5%) in 15 non-BRCA1\/2 genes. PALB2 was the most frequently mutated gene other than BRCA1\/2 but still relatively rare (1.1%). There were 38 novel P\/LP germline variants detected. P\/LP germline mutations in BRCA1\/2 were significantly associated with onset age (<i>p<\/i> &lt; 0.001), the family history of breast\/ovarian cancer (<i>p<\/i> = 0.010), and molecular subtype (<i>p<\/i> &lt; 0.001), while being correlated with onset age (<i>p<\/i> &lt; 0.001), site of breast tumor (<i>p<\/i> = 0.028), and molecular subtype (<i>p<\/i> &lt; 0.001) in HRR genes. <b><i>Conclusions:<\/i><\/b> The multiple-gene panel prominently increased the detection rate of P\/LP germline mutations in 32 cancer susceptibility genes compared to BRCA1\/2 alone. Onset younger than or equal to 45 years of age, bilateral and triple-negative breast cancer patients may be more likely to be recommended for detecting P\/LP germline mutations in HRR genes. <\/jats:p>","DOI":"10.1159\/000532095","type":"journal-article","created":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T06:58:00Z","timestamp":1691477880000},"page":"206-216","source":"Crossref","is-referenced-by-count":2,"title":["Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients"],"prefix":"10.1159","volume":"102","author":[{"given":"Yu","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhong-Ling","family":"Zhuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Tao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,7,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21660"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.53"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.7112"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.clbc.2020.07.014"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-017-5963-7"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s12253-016-0124-z"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.32176"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI60534"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1913948"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21218273"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20203200"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12040829"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/s41523-019-0142-6"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-009-0460-8"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2019.09.004"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.19323"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2016.1279"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/s13045-018-0577-5"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s12282-020-01170-4"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcancer.2019.02.004"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.3390\/genes9030121"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24158"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.32083"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2018.07.024"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0156789"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.674094"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-16-3227"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31601"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2017.0424"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.32905"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2005936"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-015-3665-z"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-017-4531-y"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1159\/000515790"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-16142-7"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-15-2477"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12092415"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2018.08.021"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706450"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-018-4661-x"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106368"}],"container-title":["Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/ocl\/article-pdf\/102\/3\/206\/4174209\/000532095.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/ocl\/article-pdf\/102\/3\/206\/4174209\/000532095.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:32:33Z","timestamp":1745422353000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000532095"}},"subtitle":[],"short-title"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