{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T20:17:59Z","timestamp":1769631479600,"version":"3.49.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100012528","name":"Kazan Federal University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012528","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["CA63366"],"award-info":[{"award-number":["CA63366"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM084983"],"award-info":[{"award-number":["GM084983"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007322","name":"Fox Chase Cancer Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gastrojournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gastroenterology"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1053\/j.gastro.2015.08.052","type":"journal-article","created":{"date-parts":[[2015,9,4]],"date-time":"2015-09-04T22:10:29Z","timestamp":1441404629000},"page":"1872-1883.e9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas"],"prefix":"10.1053","volume":"149","author":[{"given":"Sanjeevani","family":"Arora","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iltaeg","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua-Ying","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biao","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowu","family":"Gai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dale L.","family":"Bodian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph G.","family":"Vockley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Handorf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian L.","family":"Egleston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark D.","family":"Andrake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Nicolas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilya G.","family":"Serebriiskii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy J.","family":"Yen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica A.","family":"Golemis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg H.","family":"Enders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.gastro.2015.08.052_bib1","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1053\/j.gastro.2010.01.054","article-title":"Hereditary and familial colon cancer","volume":"138","author":"Jasperson","year":"2010","journal-title":"Gastroenterology"},{"key":"10.1053\/j.gastro.2015.08.052_bib2","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.6004\/jnccn.2013.0180","article-title":"Colorectal cancer screening","volume":"11","author":"Burt","year":"2013","journal-title":"J\u00a0Natl Compr Canc Netw"},{"key":"10.1053\/j.gastro.2015.08.052_bib3","doi-asserted-by":"crossref","first-page":"8993","DOI":"10.1158\/0008-5472.CAN-08-1376","article-title":"Common familial colorectal cancer linked to chromosome 7q31:\u00a0a genome-wide analysis","volume":"68","author":"Neklason","year":"2008","journal-title":"Cancer Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib4","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1136\/jmg.2009.076091","article-title":"Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer","volume":"47","author":"Neklason","year":"2010","journal-title":"J\u00a0Med Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib5","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/ng.2293","article-title":"Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk","volume":"44","author":"Dunlop","year":"2012","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib6","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1053\/j.gastro.2012.12.020","article-title":"Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis","volume":"144","author":"Peters","year":"2013","journal-title":"Gastroenterology"},{"key":"10.1053\/j.gastro.2015.08.052_bib7","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1038\/ng.670","article-title":"Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33","volume":"42","author":"Houlston","year":"2010","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib8","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng.133","article-title":"Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21","volume":"40","author":"Tenesa","year":"2008","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib9","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/nature11252","article-title":"Comprehensive molecular characterization of human colon and rectal cancer","volume":"487","year":"2012","journal-title":"Nature"},{"key":"10.1053\/j.gastro.2015.08.052_bib10","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/386623a0","article-title":"Genetic instability in colorectal cancers","volume":"386","author":"Lengauer","year":"1997","journal-title":"Nature"},{"key":"10.1053\/j.gastro.2015.08.052_bib11","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/32688","article-title":"Mutations of mitotic checkpoint genes in human cancers","volume":"392","author":"Cahill","year":"1998","journal-title":"Nature"},{"key":"10.1053\/j.gastro.2015.08.052_bib12","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/nature11935","article-title":"Replication stress links structural and numerical cancer chromosomal instability","volume":"494","author":"Burrell","year":"2013","journal-title":"Nature"},{"key":"10.1053\/j.gastro.2015.08.052_bib13","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1056\/NEJMoa1006565","article-title":"Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia","volume":"363","author":"Rio Frio","year":"2010","journal-title":"N\u00a0Engl J Med"},{"key":"10.1053\/j.gastro.2015.08.052_bib14","doi-asserted-by":"crossref","first-page":"e94554","DOI":"10.1371\/journal.pone.0094554","article-title":"Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing","volume":"9","author":"Bodian","year":"2014","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2015.08.052_bib15","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1053\/j.gastro.2015.08.052_bib16","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.molcel.2009.10.027","article-title":"UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N- terminal autorepression","volume":"37","author":"Lake","year":"2010","journal-title":"Mol Cell"},{"key":"10.1053\/j.gastro.2015.08.052_bib17","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1053\/j.gastro.2015.08.052_bib18","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib19","first-page":"4671","article-title":"DNA double-strand breaks measured in individual cells subjected to gel electrophoresis","volume":"51","author":"Olive","year":"1991","journal-title":"Cancer Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib20","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.molcel.2009.06.021","article-title":"A\u00a0genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability","volume":"35","author":"Paulsen","year":"2009","journal-title":"Mol Cell"},{"key":"10.1053\/j.gastro.2015.08.052_bib21","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2015.08.052_bib22","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/S0047-6374(01)00248-2","article-title":"Unwinding the molecular basis of the Werner syndrome","volume":"122","author":"Shen","year":"2001","journal-title":"Mech Ageing Dev"},{"key":"10.1053\/j.gastro.2015.08.052_bib23","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1093\/nar\/28.2.648","article-title":"WRN helicase expression in Werner syndrome cell lines","volume":"28","author":"Moser","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib24","doi-asserted-by":"crossref","first-page":"e1003407","DOI":"10.1371\/journal.pgen.1003407","article-title":"ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair","volume":"9","author":"Cho","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib25","doi-asserted-by":"crossref","first-page":"e13786","DOI":"10.1371\/journal.pone.0013786","article-title":"The ERCC6 gene and age-related macular degeneration","volume":"5","author":"Baas","year":"2010","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2015.08.052_bib26","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1476-4598-11-26","article-title":"Non-specific chemical inhibition of the Fanconi anemia pathway sensitizes cancer cells to cisplatin","volume":"11","author":"Jacquemont","year":"2012","journal-title":"Mol Cancer"},{"key":"10.1053\/j.gastro.2015.08.052_bib27","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng.2503","article-title":"Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas","volume":"45","author":"Palles","year":"2013","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib28","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1126\/science.1243211","article-title":"Break-induced replication repair of damaged forks induces genomic duplications in human cells","volume":"343","author":"Costantino","year":"2014","journal-title":"Science"},{"key":"10.1053\/j.gastro.2015.08.052_bib29","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1053\/j.gastro.2015.05.056","article-title":"Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair","volume":"149","author":"Segui","year":"2015","journal-title":"Gastroenterology"},{"key":"10.1053\/j.gastro.2015.08.052_bib30","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/ng.2985","article-title":"Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk","volume":"46","author":"Zhang","year":"2014","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib31","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/88919","article-title":"Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis","volume":"28","author":"Howe","year":"2001","journal-title":"Nat Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib32","doi-asserted-by":"crossref","first-page":"e1002105","DOI":"10.1371\/journal.pgen.1002105","article-title":"Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer","volume":"7","author":"Tomlinson","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib33","doi-asserted-by":"crossref","first-page":"7816","DOI":"10.1128\/MCB.00455-07","article-title":"Accurate homologous recombination is a prominent double-strand break repair pathway in mammalian chromosomes and is modulated by mismatch repair protein Msh2","volume":"27","author":"Smith","year":"2007","journal-title":"Mol Cell Biol"},{"key":"10.1053\/j.gastro.2015.08.052_bib34","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1016\/j.dnarep.2007.06.002","article-title":"Double-strand breaks induce homologous recombinational repair of interstrand cross-links via cooperation of MSH2, ERCC1-XPF, REV3, and the Fanconi anemia pathway","volume":"6","author":"Zhang","year":"2007","journal-title":"DNA Repair (Amst)"},{"key":"10.1053\/j.gastro.2015.08.052_bib35","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.mrrev.2008.05.006","article-title":"Micronuclei frequency in peripheral blood lymphocytes of cancer patients: a meta-analysis","volume":"659","author":"Iarmarcovai","year":"2008","journal-title":"Mutat Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib36","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/mutage\/geq075","article-title":"Micronuclei frequency in peripheral blood lymphocytes and cancer risk: evidence from human studies","volume":"26","author":"Bonassi","year":"2011","journal-title":"Mutagenesis"},{"key":"10.1053\/j.gastro.2015.08.052_bib37","doi-asserted-by":"crossref","first-page":"6835","DOI":"10.3748\/wjg.14.6835","article-title":"Micronucleus analysis in patients with colorectal adenocarcinoma and colorectal polyps","volume":"14","author":"Karaman","year":"2008","journal-title":"World J Gastroenterol"},{"key":"10.1053\/j.gastro.2015.08.052_bib38","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/mutage\/geu007","article-title":"Micronucleus frequency in human peripheral blood lymphocytes as a biomarker for the early detection of colorectal cancer risk","volume":"29","author":"Maffei","year":"2014","journal-title":"Mutagenesis"},{"key":"10.1053\/j.gastro.2015.08.052_bib39","doi-asserted-by":"crossref","first-page":"e94554","DOI":"10.1371\/journal.pone.0094554","article-title":"Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing","volume":"9","author":"Bodian","year":"2014","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2015.08.052_bib40","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.1093\/bioinformatics\/btr330","article-title":"The variant call format and VCFtools","volume":"27","author":"Danecek","year":"2011","journal-title":"Bioinformatics"},{"key":"10.1053\/j.gastro.2015.08.052_bib41","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"},{"key":"10.1053\/j.gastro.2015.08.052_bib42","doi-asserted-by":"crossref","first-page":"D756","DOI":"10.1093\/nar\/gkt1114","article-title":"RefSeq: an update on mammalian reference sequences","volume":"42","author":"Pruitt","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.gastro.2015.08.052_bib43","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1158\/2159-8290.CD-12-0095","article-title":"The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data","volume":"2","author":"Cerami","year":"2012","journal-title":"Cancer Discov"},{"key":"10.1053\/j.gastro.2015.08.052_bib44","first-page":"7.22.1","article-title":"Generation of Epstein-Barr virus (EBV)-immortalized B cell lines","volume":"76","author":"Tosato","year":"2007","journal-title":"Curr Protoc Immunol"},{"key":"10.1053\/j.gastro.2015.08.052_bib45","doi-asserted-by":"crossref","first-page":"e98309","DOI":"10.1371\/journal.pone.0098309","article-title":"BioAssemblyModeler (BAM): user-friendly homology modeling of protein homo- and heterooligomers","volume":"9","author":"Shapovalov","year":"2014","journal-title":"PLoS One"},{"key":"10.1053\/j.gastro.2015.08.052_bib46","series-title":"Current protocols in molecular biology","author":"Ausubel","year":"1988"},{"key":"10.1053\/j.gastro.2015.08.052_bib47","doi-asserted-by":"crossref","first-page":"e1003407","DOI":"10.1371\/journal.pgen.1003407","article-title":"ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair","volume":"9","author":"Cho","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1053\/j.gastro.2015.08.052_bib48","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/1097-0142(1950)3:1<32::AID-CNCR2820030106>3.0.CO;2-3","article-title":"Index for rating diagnostic tests","volume":"3","author":"Youden","year":"1950","journal-title":"Cancer"}],"container-title":["Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508515012597?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508515012597?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:42:00Z","timestamp":1762162920000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0016508515012597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":48,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["S0016508515012597"],"URL":"https:\/\/doi.org\/10.1053\/j.gastro.2015.08.052","relation":{},"ISSN":["0016-5085"],"issn-type":[{"value":"0016-5085","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas","name":"articletitle","label":"Article Title"},{"value":"Gastroenterology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.gastro.2015.08.052","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 AGA Institute. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}