{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T20:27:47Z","timestamp":1782246467381,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T00:00:00Z","timestamp":1587945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81702866"],"award-info":[{"award-number":["81702866"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2020,7,15]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Partner and localizer BRCA2 (<jats:italic>PALB2<\/jats:italic>) is a breast cancer predisposition gene, but the clinical relevance of <jats:italic>PALB2<\/jats:italic> germline mutations in Chinese patients with breast cancer remains unknown. This study attempted to investigate the full prevalence and spectrum of <jats:italic>PALB2<\/jats:italic> germline mutations in China and the associations between <jats:italic>PALB2<\/jats:italic> germline mutations and breast cancer risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 21,216 unselected patients with breast cancer were enrolled from 10 provinces in China, and 5890 Chinese women without cancer were enrolled as healthy controls. <jats:italic>PALB2<\/jats:italic> screening was based on next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 16,501 <jats:italic>BRCA1\/2<\/jats:italic>\u2010negative patients with breast cancer were analyzed. Deleterious <jats:italic>PALB2<\/jats:italic> mutation carriers accounted for 0.97% (n\u00a0=\u00a0160) in the breast cancer cohort and for 0.19% (n\u00a0=\u00a011) in the healthy control cohort. Forty\u2010one novel <jats:italic>PALB2<\/jats:italic> germline mutations were identified. A high frequency of <jats:italic>PALB2<\/jats:italic> c.751C&gt;T was detected, and it accounted for 10.63% of the <jats:italic>PALB2<\/jats:italic> germline mutations detected (17 of 160). PALB2 mutations were significantly associated with increased breast cancer risk (odds ratio [OR], 5.23; 95% confidence interval [CI], 2.84\u20109.65; <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.0001), especially among women 30 years old or younger (OR, 10.09; 95% CI, 3.95\u201025.79; <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.0001). Clinical characteristics, including a family history, bigger tumor size, triple\u2010negative breast cancer, positive lymph nodes, and bilateral breast cancer, were closely related to <jats:italic>PALB2<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study revealed a comprehensive spectrum of <jats:italic>PALB2<\/jats:italic> germline mutations and characteristics of <jats:italic>PALB2<\/jats:italic>\u2010related breast cancer in China. <jats:italic>PALB2<\/jats:italic> germline mutations confer a moderately increased risk for breast cancer but profoundly increase breast cancer risk for those 30 years old or younger in the Chinese population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.32905","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T14:53:27Z","timestamp":1587999207000},"page":"3202-3208","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Spectrum of <i>PALB2<\/i> germline mutations and characteristics of <i>PALB2<\/i>\u2010related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next\u2010generation sequencing"],"prefix":"10.1002","volume":"126","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0442-6183","authenticated-orcid":false,"given":"Jiaojiao","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Breast Surgery Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5872-9804","authenticated-orcid":false,"given":"Honglian","family":"Wang","sequence":"additional","affiliation":[{"name":"AITA Biomedical Research Institute Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7664-8933","authenticated-orcid":false,"given":"Fangmeng","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Affiliated Union Hospital Fujian Medical University Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanwen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Women and Children's Hospital of Ningbo Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingjian","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Yiwu Maternity and Child Care Hospital Yiwu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhu","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Thyroid and Breast Surgery Ningbo Medical Center Li Huili Eastern Hospital Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8375-956X","authenticated-orcid":false,"given":"Yun","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Shanghai Medical College Fudan University Shanghai China"},{"name":"Institutes of Biomedical Sciences Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9742-9756","authenticated-orcid":false,"given":"Chuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Affiliated Union Hospital Fujian Medical University Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2263-6275","authenticated-orcid":false,"given":"Yiding","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education Zhejiang University School of Medicine Hangzhou 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