{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:20:44Z","timestamp":1788542444755,"version":"build-2803163510"},"reference-count":106,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T00:00:00Z","timestamp":1662422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC2500400"],"award-info":[{"award-number":["2021YFC2500400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021B1515420007"],"award-info":[{"award-number":["2021B1515420007"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Planning Project of Guangzhou","award":["201804020094"],"award-info":[{"award-number":["201804020094"]}]},{"name":"Sino-Sweden Joint Research Programme","award":["81861138006"],"award-info":[{"award-number":["81861138006"]}]},{"name":"Special Support Program for High-level Professionals on Scientific and Technological Innovation of Guangdong Province","award":["2014TX01R201"],"award-info":[{"award-number":["2014TX01R201"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82003520"],"award-info":[{"award-number":["82003520"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81973131"],"award-info":[{"award-number":["81973131"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81903395"],"award-info":[{"award-number":["81903395"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81803319"],"award-info":[{"award-number":["81803319"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Science Fund for Distinguished Young Scholars of China","award":["81325018"],"award-info":[{"award-number":["81325018"]}]},{"DOI":"10.13039\/501100012245","name":"Science and Technology Planning Project of Guangdong Province","doi-asserted-by":"publisher","award":["2019B030316031"],"award-info":[{"award-number":["2019B030316031"]}],"id":[{"id":"10.13039\/501100012245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015956","name":"Key Area Research and Development Program of Guangdong Province","doi-asserted-by":"publisher","award":["2019B110233004"],"award-info":[{"award-number":["2019B110233004"]}],"id":[{"id":"10.13039\/501100015956","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nasopharyngeal carcinoma (NPC) is closely associated with genetic factors and Epstein-Barr virus infection, showing strong familial aggregation. Individuals with a family history suffer elevated NPC risk, requiring effective genetic counseling for risk stratification and individualized prevention.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole-exome sequencing on 502 familial NPC patients and 404 unaffected relatives and controls. We systematically evaluated the established cancer predisposition genes and investigated novel NPC susceptibility genes, making comparisons with 21 other familial cancers in the UK biobank (N\u2009=\u20095218).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Rare pathogenic mutations in the established cancer predisposition genes were observed in familial NPC patients, including ERCC2 (1.39%), TP63 (1.00%), MUTYH (0.80%), and BRCA1 (0.80%). Additionally, 6 novel susceptibility genes were identified. RAD54L, involved in the DNA repair pathway together with ERCC2, MUTYH, and BRCA1, showed the highest frequency (4.18%) in familial NPC. Enrichment analysis found mutations in TP63 were enriched in familial NPC, and RAD54L and EML2 were enriched in both NPC and other Epstein-Barr virus\u2013associated cancers. Besides rare variants, common variants reported in the studies of sporadic NPC were also associated with familial NPC risk. Individuals in the top quantile of common variant-derived genetic risk score while carrying rare variants exhibited increased NPC risk (odds ratio\u2009=\u200913.47, 95% confidence interval = 6.33 to 28.68, P\u2009=\u20091.48\u2009\u00d7\u200910\u201311); men in this risk group showed a cumulative lifetime risk of 24.19%, much higher than those in the bottom common variant-derived genetic risk score quantile and without rare variants (2.04%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study expands the catalog of NPC susceptibility genes and provides the potential for risk stratification of individuals with an NPC family history.<\/jats:p><\/jats:sec>","DOI":"10.1093\/jnci\/djac177","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T14:17:16Z","timestamp":1662473836000},"page":"1689-1697","source":"Crossref","is-referenced-by-count":21,"title":["Whole-Exome Sequencing Study of Familial Nasopharyngeal Carcinoma and Its Implication for Identifying High-Risk Individuals"],"prefix":"10.1093","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0271-2098","authenticated-orcid":false,"given":"Tong-Min","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Qiao","family":"He","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Qiong","family":"Xue","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang-Bo","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Fei","family":"Xia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Radiation Oncology, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang-Mi","family":"Deng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Li","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruo-Wen","family":"Xiao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Liao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Da-Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan-Hua","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu-Ting","family":"Luo","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia-Ting","family":"Tong","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Xia","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue-Yin","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi-Zhao","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Fen","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Hui","family":"Zheng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shao-Dan","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye-Zhu","family":"Hu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-Yi","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Qi","family":"Zheng","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Wen","family":"Huang","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Jing","family":"Jia","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei-Lei","family":"Yuan","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"You","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Nasopharyngeal Carcinoma, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guan-Qun","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Radiation Oncology, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Xia","family":"Lu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Radiation Oncology, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cancer Prevention, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Yuan","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Nasopharyngeal Carcinoma, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Feng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Clinical Oncology, University of Hong Kong, Hong Kong (Special Administrative Region) , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ze-Fang","family":"Ren","sequence":"additional","affiliation":[{"name":"School of Public Health, Sun Yat-sen University , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Qiang","family":"Mai","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Nasopharyngeal Carcinoma, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4630-9404","authenticated-orcid":false,"given":"Ying","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Radiation Oncology, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Ma","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"},{"name":"Department of Radiation Oncology, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[{"name":"Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine , Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Li","family":"Lung","sequence":"additional","affiliation":[{"name":"Department of Clinical Oncology, University of Hong Kong, Hong Kong (Special Administrative Region) , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0528-8715","authenticated-orcid":false,"given":"Wei-Hua","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center , Guangzhou, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,9,6]]},"reference":[{"issue":"6","key":"2022121307571767500_djac177-B1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3322\/caac.21492","article-title":"Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"68","author":"Bray","year":"2018","journal-title":"CA Cancer J Clin."},{"issue":"1","key":"2022121307571767500_djac177-B2","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.canlet.2016.01.040","article-title":"Global trends in incidence and mortality of nasopharyngeal carcinoma","volume":"374","author":"Tang","year":"2016","journal-title":"Cancer Lett."},{"issue":"suppl 7","key":"2022121307571767500_djac177-B3","doi-asserted-by":"crossref","first-page":"vii308","DOI":"10.1093\/annonc\/mdq277","article-title":"Nasopharyngeal carcinoma","volume":"21","author":"Chan","year":"2010","journal-title":"Ann Oncol."},{"issue":"10192","key":"2022121307571767500_djac177-B4","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S0140-6736(19)30956-0","article-title":"Nasopharyngeal carcinoma","volume":"394","author":"Chen","year":"2019","journal-title":"Lancet."},{"issue":"2","key":"2022121307571767500_djac177-B5","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s12250-015-3592-5","article-title":"The role of Epstein-Barr virus infection in the pathogenesis of nasopharyngeal carcinoma","volume":"30","author":"Tsang","year":"2015","journal-title":"Virol Sin."},{"issue":"1732","key":"2022121307571767500_djac177-B6","doi-asserted-by":"crossref","DOI":"10.1098\/rstb.2016.0270","article-title":"Epstein-Barr virus infection and nasopharyngeal carcinoma","volume":"372","author":"Tsao","year":"2017","journal-title":"Philos Trans R Soc Lond B Biol Sci."},{"issue":"12","key":"2022121307571767500_djac177-B7","first-page":"581","article-title":"Epstein-Barr virus and nasopharyngeal carcinoma","volume":"33","author":"Young","year":"2014","journal-title":"Chin J Cancer."},{"issue":"2","key":"2022121307571767500_djac177-B8","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/cncr.20372","article-title":"Familial risk and clustering of nasopharyngeal carcinoma in Guangdong, China","volume":"101","author":"Jia","year":"2004","journal-title":"Cancer."},{"issue":"14","key":"2022121307571767500_djac177-B9","doi-asserted-by":"crossref","first-page":"2716","DOI":"10.1002\/cncr.30643","article-title":"Quantification of familial risk of nasopharyngeal carcinoma in a high-incidence area","volume":"123","author":"Liu","year":"2017","journal-title":"Cancer."},{"key":"2022121307571767500_djac177-B10","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.oraloncology.2017.07.020","article-title":"Familial aggregation of nasopharyngeal carcinoma in Taiwan","volume":"73","author":"Huang","year":"2017","journal-title":"Oral Oncol."},{"issue":"7483","key":"2022121307571767500_djac177-B11","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/nature12981","article-title":"Realizing the promise of cancer predisposition genes","volume":"505","author":"Rahman","year":"2014","journal-title":"Nature."},{"issue":"1","key":"2022121307571767500_djac177-B12","doi-asserted-by":"crossref","first-page":"77","DOI":"10.6004\/jnccn.2021.0001","article-title":"Genetic\/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology","volume":"19","author":"Daly","year":"2021","journal-title":"J Natl Compr Canc Netw."},{"issue":"12","key":"2022121307571767500_djac177-B13","doi-asserted-by":"crossref","first-page":"3317","DOI":"10.1073\/pnas.1523436113","article-title":"Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma","volume":"113","author":"Dai","year":"2016","journal-title":"Proc Natl Acad Sci USA."},{"issue":"8","key":"2022121307571767500_djac177-B14","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1158\/1055-9965.EPI-15-0275","article-title":"Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma","volume":"24","author":"Sasaki","year":"2015","journal-title":"Cancer Epidemiol Biomarkers Prev."},{"issue":"1","key":"2022121307571767500_djac177-B15","doi-asserted-by":"crossref","first-page":"9916","DOI":"10.1038\/s41598-019-46137-4","article-title":"Whole-exome sequencing of nasopharyngeal carcinoma families reveals novel variants potentially involved in nasopharyngeal carcinoma","volume":"9","author":"Yu","year":"2019","journal-title":"Sci Rep."},{"issue":"7","key":"2022121307571767500_djac177-B16","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/ng.601","article-title":"A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci","volume":"42","author":"Bei","year":"2010","journal-title":"Nat Genet."},{"issue":"3","key":"2022121307571767500_djac177-B17","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1002\/ijc.29035","article-title":"HLA-A SNPs and amino acid variants are associated with nasopharyngeal carcinoma in Malaysian Chinese","volume":"136","author":"Chin","year":"2015","journal-title":"Int J Cancer."},{"issue":"16","key":"2022121307571767500_djac177-B18","doi-asserted-by":"crossref","first-page":"3626","DOI":"10.1093\/hmg\/ddw200","article-title":"An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma","volume":"25","author":"Cui","year":"2016","journal-title":"Hum Mol Genet."},{"issue":"7","key":"2022121307571767500_djac177-B19","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/jhg.2009.49","article-title":"A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma","volume":"54","author":"Ng","year":"2009","journal-title":"J Hum Genet."},{"issue":"11","key":"2022121307571767500_djac177-B20","doi-asserted-by":"crossref","first-page":"e1003103","DOI":"10.1371\/journal.pgen.1003103","article-title":"The principal genetic determinants for nasopharyngeal carcinoma in China involve the HLA class I antigen recognition groove","volume":"8","author":"Tang","year":"2012","journal-title":"PLoS Genet."},{"issue":"2","key":"2022121307571767500_djac177-B21","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.ajhg.2009.07.007","article-title":"Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3","volume":"85","author":"Tse","year":"2009","journal-title":"Am J Hum Genet."},{"key":"2022121307571767500_djac177-B22","doi-asserted-by":"publisher","DOI":"10.1002\/jmv.26198","article-title":"Nasopharyngeal Epstein-Barr virus DNA loads in high-risk nasopharyngeal carcinoma families: familial aggregation and host heritability","author":"Zheng","year":"2020","journal-title":"J Med Virol."},{"issue":"8","key":"2022121307571767500_djac177-B23","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1038\/ng.3006","article-title":"The genomic landscape of nasopharyngeal carcinoma","volume":"46","author":"Lin","year":"2014","journal-title":"Nat Genet."},{"issue":"40","key":"2022121307571767500_djac177-B24","doi-asserted-by":"crossref","first-page":"11283","DOI":"10.1073\/pnas.1607606113","article-title":"Whole-exome sequencing identifies multiple loss-of-function mutations of NF-kappaB pathway regulators in nasopharyngeal carcinoma","volume":"113","author":"Zheng","year":"2016","journal-title":"Proc Natl Acad Sci USA."},{"key":"2022121307571767500_djac177-B25","doi-asserted-by":"crossref","first-page":"14121","DOI":"10.1038\/ncomms14121","article-title":"Exome and genome sequencing of nasopharynx cancer identifies NF-kappaB pathway activating mutations","volume":"8","author":"Li","year":"2017","journal-title":"Nat Commun."},{"issue":"23","key":"2022121307571767500_djac177-B26","doi-asserted-by":"crossref","first-page":"5930","DOI":"10.1158\/0008-5472.CAN-18-3845","article-title":"Clonal mutations activate the NF-kappaB pathway to promote recurrence of nasopharyngeal carcinoma","volume":"79","author":"You","year":"2019","journal-title":"Cancer Res."},{"issue":"7","key":"2022121307571767500_djac177-B27","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/s41588-021-00885-0","article-title":"Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank","volume":"53","author":"Szustakowski","year":"2021","journal-title":"Nat Genet."},{"key":"2022121307571767500_djac177-B28","volume-title":"Genomics in the Cloud: Using Docker, GATK, and WDL in Terra.","author":"Van der Auwera","year":"2020","edition":"1st ed"},{"key":"2022121307571767500_djac177-B29","doi-asserted-by":"publisher","author":"Poplin","year":"2018","DOI":"10.1101\/201178:201178"},{"issue":"16","key":"2022121307571767500_djac177-B30","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"2022121307571767500_djac177-B31","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"issue":"5","key":"2022121307571767500_djac177-B32","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"issue":"24","key":"2022121307571767500_djac177-B33","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1056\/NEJMoa1508054","article-title":"Germline mutations in predisposition genes in pediatric cancer","volume":"373","author":"Zhang","year":"2015","journal-title":"N Engl J Med."},{"issue":"11","key":"2022121307571767500_djac177-B34","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng.3103","article-title":"Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features","volume":"46","author":"Lessel","year":"2014","journal-title":"Nat Genet."},{"issue":"7508","key":"2022121307571767500_djac177-B35","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nature13296","article-title":"Novel somatic and germline mutations in intracranial germ cell tumours","volume":"511","author":"Wang","year":"2014","journal-title":"Nature."},{"issue":"1","key":"2022121307571767500_djac177-B36","doi-asserted-by":"crossref","first-page":"4398","DOI":"10.1038\/ncomms5398","article-title":"Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour","volume":"5","author":"Hanks","year":"2014","journal-title":"Nat Commun."},{"issue":"5","key":"2022121307571767500_djac177-B37","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.3253","article-title":"Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia","volume":"47","author":"Noetzli","year":"2015","journal-title":"Nat Genet."},{"issue":"6","key":"2022121307571767500_djac177-B38","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/ng.3284","article-title":"Germline RECQL mutations are associated with breast cancer susceptibility","volume":"47","author":"Cybulski","year":"2015","journal-title":"Nat Genet."},{"issue":"42","key":"2022121307571767500_djac177-B39","doi-asserted-by":"crossref","first-page":"15172","DOI":"10.1073\/pnas.1407909111","article-title":"Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer","volume":"111","author":"Kiiski","year":"2014","journal-title":"Proc Natl Acad Sci USA."},{"issue":"7375","key":"2022121307571767500_djac177-B40","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature."},{"issue":"3","key":"2022121307571767500_djac177-B41","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gr.144188.112","article-title":"Rare allelic forms of PRDM9 associated with childhood leukemogenesis","volume":"23","author":"Hussin","year":"2013","journal-title":"Genome Res."},{"issue":"5","key":"2022121307571767500_djac177-B42","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/ng.2947","article-title":"POT1 loss-of-function variants predispose to familial melanoma","volume":"46","author":"Robles-Espinoza","year":"2014","journal-title":"Nat Genet."},{"issue":"1","key":"2022121307571767500_djac177-B43","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ajhg.2018.04.013","article-title":"Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes","volume":"103","author":"Whitworth","year":"2018","journal-title":"Am J Hum Genet."},{"issue":"10","key":"2022121307571767500_djac177-B44","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/ng.2754","article-title":"A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia","volume":"45","author":"Shah","year":"2013","journal-title":"Nat Genet."},{"issue":"7","key":"2022121307571767500_djac177-B45","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/ejhg.2017.65","article-title":"Genotype and phenotype spectrum of NRAS germline variants","volume":"25","author":"Altmuller","year":"2017","journal-title":"Eur J Hum Genet."},{"issue":"7","key":"2022121307571767500_djac177-B46","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1136\/jmg.36.7.518","article-title":"Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation","volume":"36","author":"Lam","year":"1999","journal-title":"J Med Genet."},{"issue":"16","key":"2022121307571767500_djac177-B47","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1016\/S1470-2045(15)00369-1","article-title":"Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study","volume":"16","author":"Moriyama","year":"2015","journal-title":"Lancet Oncol."},{"issue":"6","key":"2022121307571767500_djac177-B48","doi-asserted-by":"crossref","first-page":"e1005262","DOI":"10.1371\/journal.pgen.1005262","article-title":"Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia","volume":"11","author":"Topka","year":"2015","journal-title":"PLoS Genet."},{"issue":"7","key":"2022121307571767500_djac177-B49","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1002\/ajmg.a.37048","article-title":"Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations","volume":"167","author":"Peacock","year":"2015","journal-title":"Am J Med Genet A."},{"issue":"55","key":"2022121307571767500_djac177-B50","doi-asserted-by":"crossref","first-page":"93450","DOI":"10.18632\/oncotarget.18596","article-title":"Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort","volume":"8","author":"Raskin","year":"2017","journal-title":"Oncotarget."},{"issue":"9","key":"2022121307571767500_djac177-B51","doi-asserted-by":"crossref","first-page":"e0185615","DOI":"10.1371\/journal.pone.0185615","article-title":"The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: from BRCA1\/2 to multi-gene panels","volume":"12","author":"Sung","year":"2017","journal-title":"PLoS One."},{"issue":"4","key":"2022121307571767500_djac177-B52","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.2010.082727","article-title":"Sequence analysis of the shelterin telomere protection complex genes in dyskeratosiscongenita","volume":"48","author":"Savage","year":"2011","journal-title":"J Med Genet."},{"issue":"6","key":"2022121307571767500_djac177-B53","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/gcc.22247","article-title":"MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis","volume":"54","author":"Nelson","year":"2015","journal-title":"Genes Chromosomes Cancer."},{"key":"2022121307571767500_djac177-B54","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.canlet.2017.06.028","article-title":"Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma","volume":"405","author":"Betti","year":"2017","journal-title":"Cancer Lett."},{"issue":"20","key":"2022121307571767500_djac177-B55","doi-asserted-by":"crossref","first-page":"3943","DOI":"10.1002\/cncr.30802","article-title":"Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50","volume":"123","author":"Chandrasekharappa","year":"2017","journal-title":"Cancer."},{"issue":"1","key":"2022121307571767500_djac177-B56","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1186\/s12885-017-3799-y","article-title":"Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients","volume":"17","author":"Lee","year":"2017","journal-title":"BMC Cancer."},{"issue":"1","key":"2022121307571767500_djac177-B57","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s10549-018-4661-x","article-title":"Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer","volume":"169","author":"Fostira","year":"2018","journal-title":"Breast Cancer Res Treat."},{"issue":"6","key":"2022121307571767500_djac177-B58","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1002\/ajmg.a.37639","article-title":"Nutritional aspects of Noonan syndrome and Noonan-related disorders","volume":"170","author":"da Silva","year":"2016","journal-title":"Am J Med Genet A."},{"issue":"6","key":"2022121307571767500_djac177-B59","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1111\/bjh.12914","article-title":"Allelic variants of PRDM9 associated with high hyperdiploid childhood acute lymphoblastic leukaemia","volume":"166","author":"Woodward","year":"2014","journal-title":"Br J Haematol."},{"issue":"7","key":"2022121307571767500_djac177-B60","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1158\/2159-8290.CD-14-1096","article-title":"Germline mutations in the CDKN2B tumor suppressor gene predispose to renal cell carcinoma","volume":"5","author":"Jafri","year":"2015","journal-title":"Cancer Discov."},{"issue":"23","key":"2022121307571767500_djac177-B61","doi-asserted-by":"crossref","first-page":"3310","DOI":"10.1093\/bioinformatics\/btu548","article-title":"OptiType: precision HLA typing from next-generation sequencing data","volume":"30","author":"Szolek","year":"2014","journal-title":"Bioinformatics."},{"issue":"2","key":"2022121307571767500_djac177-B62","doi-asserted-by":"crossref","first-page":"e0228198","DOI":"10.1371\/journal.pone.0228198","article-title":"iCARE: an R package to build, validate and apply absolute risk models","volume":"15","author":"Pal Choudhury","year":"2020","journal-title":"PLoS One."},{"issue":"1","key":"2022121307571767500_djac177-B63","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1038\/s41467-022-29570-4","article-title":"A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening","volume":"13","author":"He","year":"2022","journal-title":"Nat Commun."},{"issue":"9","key":"2022121307571767500_djac177-B64","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/s41588-020-0676-4","article-title":"Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale","volume":"52","author":"Li","year":"2020","journal-title":"Nat Genet."},{"issue":"4","key":"2022121307571767500_djac177-B65","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.ajhg.2016.02.012","article-title":"Control for population structure and relatedness for binary traits in genetic association studies via logistic mixed models","volume":"98","author":"Chen","year":"2016","journal-title":"Am J Hum Genet."},{"issue":"1","key":"2022121307571767500_djac177-B66","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Yoav Benjamini","year":"1995","journal-title":"J Roy Stat Soc Ser B (Methodol)."},{"issue":"1","key":"2022121307571767500_djac177-B67","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1111\/tan.12576","article-title":"Sequence-based typing of HLA-A gene in 930 patients with nasopharyngeal carcinoma in Hunan province, southern China","volume":"86","author":"Tian","year":"2015","journal-title":"Tissue Antigens."},{"issue":"1","key":"2022121307571767500_djac177-B68","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/s42003-020-01487-y","article-title":"Nasopharyngeal carcinoma MHC region deep sequencing identifies HLA and novel non-HLA TRIM31 and TRIM39 loci","volume":"3","author":"Ning","year":"2020","journal-title":"Commun Biol."},{"issue":"4","key":"2022121307571767500_djac177-B69","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1136\/jmedgenet-2016-103932","article-title":"Common cancers share familial susceptibility: implications for cancer genetics and counselling","volume":"54","author":"Yu","year":"2017","journal-title":"J Med Genet."},{"key":"2022121307571767500_djac177-B70","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1186\/1471-2407-12-138","article-title":"Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site","volume":"12","author":"Albright","year":"2012","journal-title":"BMC Cancer."},{"issue":"1","key":"2022121307571767500_djac177-B71","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1586\/14737140.2014.863713","article-title":"Family history and the risk of cancer: genetic factors influencing multiple cancer sites","volume":"14","author":"Turati","year":"2014","journal-title":"Expert Rev Anticancer Ther."},{"issue":"6","key":"2022121307571767500_djac177-B72","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ng.f.136","article-title":"Common and rare variants in multifactorial susceptibility to common diseases","volume":"40","author":"Bodmer","year":"2008","journal-title":"Nat Genet."},{"issue":"2","key":"2022121307571767500_djac177-B73","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.eururo.2021.04.013","article-title":"Combined effect of a polygenic risk score and rare genetic variants on prostate cancer risk","volume":"80","author":"Darst","year":"2021","journal-title":"Eur Urol."},{"issue":"2","key":"2022121307571767500_djac177-B74","doi-asserted-by":"crossref","first-page":"e56128","DOI":"10.1371\/journal.pone.0056128","article-title":"Developing genetic epidemiological models to predict risk for nasopharyngeal carcinoma in high-risk population of China","volume":"8","author":"Ruan","year":"2013","journal-title":"PLoS One."},{"issue":"1","key":"2022121307571767500_djac177-B75","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1186\/s12916-022-02334-z","article-title":"Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification","volume":"20","author":"Ho","year":"2022","journal-title":"BMC Med."},{"issue":"3","key":"2022121307571767500_djac177-B76","doi-asserted-by":"crossref","first-page":"pkaa021","DOI":"10.1093\/jncics\/pkaa021","article-title":"Evaluating the utility of polygenic risk scores in identifying high-risk individuals for eight common cancers","volume":"4","author":"Jia","year":"2020","journal-title":"JNCI Cancer Spectr."},{"issue":"1","key":"2022121307571767500_djac177-B77","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ajhg.2018.11.002","article-title":"Polygenic risk scores for prediction of breast cancer and breast cancer subtypes","volume":"104","author":"Mavaddat","year":"2019","journal-title":"Am J Hum Genet."},{"issue":"45","key":"2022121307571767500_djac177-B78","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1038\/onc.2009.258","article-title":"Three Epstein-Barr virus latency proteins independently promote genomic instability by inducing DNA damage, inhibiting DNA repair and inactivating cell cycle checkpoints","volume":"28","author":"Gruhne","year":"2009","journal-title":"Oncogene."},{"issue":"11","key":"2022121307571767500_djac177-B79","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3390\/v9110341","article-title":"Epstein-Barr virus hijacks DNA damage response transducers to orchestrate its life cycle","volume":"9","author":"Hau","year":"2017","journal-title":"Viruses."},{"issue":"11","key":"2022121307571767500_djac177-B80","doi-asserted-by":"crossref","first-page":"556","DOI":"10.5732\/cjc.014.10170","article-title":"The interplay of host genetic factors and Epstein-Barr virus in the development of nasopharyngeal carcinoma","volume":"33","author":"Lung","year":"2014","journal-title":"Chin J Cancer."},{"issue":"7","key":"2022121307571767500_djac177-B81","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1002\/ijc.28802","article-title":"Multigene pathway-based analyses identify nasopharyngeal carcinoma risk associations for cumulative adverse effects of TERT-CLPTM1L and DNA double-strand breaks repair","volume":"135","author":"Yee Ko","year":"2014","journal-title":"Int J Cancer."},{"issue":"43","key":"2022121307571767500_djac177-B82","doi-asserted-by":"crossref","first-page":"28292","DOI":"10.1074\/jbc.273.43.28292","article-title":"The human RAD54 recombinational DNA repair protein is a double-stranded DNA-dependent ATPase","volume":"273","author":"Swagemakers","year":"1998","journal-title":"J Biol Chem."},{"issue":"45","key":"2022121307571767500_djac177-B83","doi-asserted-by":"crossref","first-page":"42790","DOI":"10.1074\/jbc.M208004200","article-title":"Homologous DNA pairing by human recombination factors Rad51 and Rad54","volume":"277","author":"Sigurdsson","year":"2002","journal-title":"J Biol Chem."},{"issue":"1","key":"2022121307571767500_djac177-B84","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1038\/s41467-020-16443-x","article-title":"The bromodomain containing protein BRD-9 orchestrates RAD51-RAD54 complex formation and regulates homologous recombination-mediated repair","volume":"11","author":"Zhou","year":"2020","journal-title":"Nat Commun."},{"key":"2022121307571767500_djac177-B85","doi-asserted-by":"crossref","first-page":"649435","DOI":"10.3389\/fonc.2021.649435","article-title":"Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes","volume":"11","author":"Doddato","year":"2021","journal-title":"Front Oncol."},{"key":"2022121307571767500_djac177-B86","first-page":"102675","article-title":"A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants","volume":"53","author":"Earl","year":"2020","journal-title":"E Bio Medicine."},{"issue":"6","key":"2022121307571767500_djac177-B87","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1002\/ijc.25759","article-title":"Human genetic variants of homologous recombination repair genes first found to be associated with Epstein-Barr virus antibody titers in healthy Cantonese","volume":"129","author":"Shen","year":"2011","journal-title":"Int J Cancer."},{"issue":"1732","key":"2022121307571767500_djac177-B88","doi-asserted-by":"crossref","DOI":"10.1098\/rstb.2016.0271","article-title":"Epstein-Barr virus-associated lymphomas","volume":"372","author":"Shannon-Lowe","year":"2017","journal-title":"Philos Trans R Soc Lond B Biol Sci."},{"issue":"1","key":"2022121307571767500_djac177-B89","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1182\/asheducation-2005.1.260:260-6","article-title":"Biology and treatment of Epstein-Barr virus-associated non-Hodgkin lymphomas","volume":"2005","author":"Heslop","year":"2005","journal-title":"Hematology Am Soc Hematol Educ Program."},{"issue":"6473","key":"2022121307571767500_djac177-B90","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/368769a0","article-title":"Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II","volume":"368","author":"Drapkin","year":"1994","journal-title":"Nature."},{"issue":"7","key":"2022121307571767500_djac177-B91","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1089\/dna.2006.0537","article-title":"Genetic polymorphisms of the DNA repair gene and risk of nasopharyngeal carcinoma","volume":"26","author":"Yang","year":"2007","journal-title":"DNA Cell Biol."},{"issue":"1","key":"2022121307571767500_djac177-B92","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1746-1596-9-15","article-title":"Association of XPD Lys751Gln polymorphism with head and neck cancer susceptibility: evidence from 11,443 subjects","volume":"9","author":"Lin","year":"2014","journal-title":"Diagn Pathol."},{"issue":"8","key":"2022121307571767500_djac177-B93","doi-asserted-by":"crossref","first-page":"3259","DOI":"10.1073\/pnas.92.8.3259","article-title":"The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2","volume":"92","author":"Tong","year":"1995","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"4","key":"2022121307571767500_djac177-B94","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1242\/dev.071191","article-title":"\u0394Np63 knockout mice reveal its indispensable role as a master regulator of epithelial development and differentiation","volume":"139","author":"Romano","year":"2012","journal-title":"Development."},{"issue":"6","key":"2022121307571767500_djac177-B95","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1309\/21TW-2NDG-JRK4-PFJX","article-title":"Value of p63 and cytokeratin 5\/6 as immunohistochemical markers for the differential diagnosis of poorly differentiated and undifferentiated carcinomas","volume":"116","author":"Kaufmann","year":"2001","journal-title":"Am J Clin Pathol."},{"issue":"6","key":"2022121307571767500_djac177-B96","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1158\/1541-7786.MCR-18-1355","article-title":"Loss of TP63 promotes the metastasis of head and neck squamous cell carcinoma by activating MAPK and STAT3 signaling","volume":"17","author":"Lakshmanachetty","year":"2019","journal-title":"Mol Cancer Res."},{"issue":"1","key":"2022121307571767500_djac177-B97","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ccr.2005.12.013","article-title":"p63 mediates survival in squamous cell carcinoma by suppression of p73-dependent apoptosis","volume":"9","author":"Rocco","year":"2006","journal-title":"Cancer Cell."},{"issue":"1","key":"2022121307571767500_djac177-B98","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/jcp.21656","article-title":"Overexpression of delta Np63 in a human nasopharyngeal carcinoma cell line downregulates CKIs and enhances cell proliferation","volume":"219","author":"Chiang","year":"2009","journal-title":"J Cell Physiol."},{"issue":"10","key":"2022121307571767500_djac177-B99","doi-asserted-by":"crossref","first-page":"e1000680","DOI":"10.1371\/journal.pgen.1000680","article-title":"p63 and p73 transcriptionally regulate genes involved in DNA repair","volume":"5","author":"Lin","year":"2009","journal-title":"PLoS Genet."},{"issue":"7","key":"2022121307571767500_djac177-B100","doi-asserted-by":"crossref","first-page":"3204","DOI":"10.1093\/nar\/gkw036","article-title":"DeltaNp63 activates the Fanconi anemia DNA repair pathway and limits the efficacy of cisplatin treatment in squamous cell carcinoma","volume":"44","author":"Bretz","year":"2016","journal-title":"Nucleic Acids Res."},{"issue":"30","key":"2022121307571767500_djac177-B101","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1038\/onc.2010.175","article-title":"Epstein-Barr virus latent membrane protein-2A-induced DeltaNp63alpha expression is associated with impaired epithelial-cell differentiation","volume":"29","author":"Fotheringham","year":"2010","journal-title":"Oncogene."},{"key":"2022121307571767500_djac177-B102","doi-asserted-by":"crossref","first-page":"590033","DOI":"10.3389\/fonc.2020.590033","article-title":"Genetic predisposition to solid pediatric cancers","volume":"10","author":"Capasso","year":"2020","journal-title":"Front Oncol."},{"issue":"7","key":"2022121307571767500_djac177-B103","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1007\/s11912-022-01213-3","article-title":"Cancer predisposition genes in adolescents and young adults (AYAs): a review paper from the Italian AYA working group","volume":"24","author":"Toss","year":"2022","journal-title":"Curr Oncol Rep."},{"issue":"11","key":"2022121307571767500_djac177-B104","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.trecan.2018.09.002","article-title":"Penetrance and expressivity in inherited cancer predisposing syndromes","volume":"4","author":"Taeubner","year":"2018","journal-title":"Trends Cancer."},{"issue":"3","key":"2022121307571767500_djac177-B105","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/aje\/kws479","article-title":"Quantitative association of tobacco smoking with the risk of nasopharyngeal carcinoma: a comprehensive meta-analysis of studies conducted between 1979 and 2011","volume":"178","author":"Xue","year":"2013","journal-title":"Am J Epidemiol."},{"key":"2022121307571767500_djac177-B106","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1186\/1471-2407-10-446","article-title":"Traditional Cantonese diet and nasopharyngeal carcinoma risk: a large-scale case-control study in Guangdong, China","volume":"10","author":"Jia","year":"2010","journal-title":"BMC Cancer."}],"container-title":["JNCI: Journal of the National Cancer Institute"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jnci\/advance-article-pdf\/doi\/10.1093\/jnci\/djac177\/46442058\/djac177.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jnci\/article-pdf\/114\/12\/1689\/47762026\/djac177.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jnci\/article-pdf\/114\/12\/1689\/47762026\/djac177.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T05:40:08Z","timestamp":1727934008000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnci\/article\/114\/12\/1689\/6692718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,6]]},"references-count":106,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,9,6]]},"published-print":{"date-parts":[[2022,12,8]]}},"URL":"https:\/\/doi.org\/10.1093\/jnci\/djac177","relation":{},"ISSN":["0027-8874","1460-2105"],"issn-type":[{"value":"0027-8874","type":"print"},{"value":"1460-2105","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,12,1]]},"published":{"date-parts":[[2022,9,6]]}}}