{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T21:24:12Z","timestamp":1782941052300,"version":"3.54.5"},"reference-count":89,"publisher":"Impact Journals, LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncotarget"],"published-print":{"date-parts":[[2023,2,7]]},"DOI":"10.18632\/oncotarget.28358","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T13:38:33Z","timestamp":1675777113000},"page":"111-125","source":"Crossref","is-referenced-by-count":3,"title":["The \u201cextreme phenotype approach\u201d applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles"],"prefix":"10.18632","volume":"14","author":[{"given":"Martin","family":"Chevarin","sequence":"first","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Unit\u00e9 Fonctionnelle Innovation diagnostique dans les maladies rares, laboratoire de g\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, Plateau Technique de Biologie, CHU Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Alcantara","sequence":"additional","affiliation":[{"name":"Human DNA Damage Response Disorders Group, University of Sussex, Genome Damage and Stability Centre, Brighton, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Albuisson","sequence":"additional","affiliation":[{"name":"Service d\u2019Oncog\u00e9n\u00e9tique, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"},{"name":"D\u00e9partement de biologie et pathologie des tumeurs, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Agn\u00e8s","family":"Collonge-Rame","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, CHU Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Populaire","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, CHU Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohair","family":"Selmani","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, CHU Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"Baurand","sequence":"additional","affiliation":[{"name":"Service d\u2019Oncog\u00e9n\u00e9tique, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Sawka","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey","family":"Bertolone","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Unit\u00e9 Fonctionnelle Innovation diagnostique dans les maladies rares, laboratoire de g\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, Plateau Technique de Biologie, CHU Dijon Bourgogne, Dijon, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Jonveaux","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U954, H\u00f4pitaux de Brabois, Vandoeuvre les Nancy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves-Jean","family":"Bignon","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019Oncologie Mol\u00e9culaire, Centre Jean Perrin, Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Coupier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d\u2019Oncog\u00e9n\u00e9tique, ICM Val d\u2019Aurel, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Cornelis","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bordeaux, IMB, UMR 5251, Talence, France"},{"name":"Service d\u2019imagerie diagnostique et interventionnelle de l\u2019adulte, H\u00f4pital Pellegrin, CHU de Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Cordier","sequence":"additional","affiliation":[{"name":"UF6948 oncog\u00e9n\u00e9tique, CHRU de Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Mozelle-Nivoix","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, CHU-Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, CHU Besan\u00e7on, Besan\u00e7on, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Boidot","sequence":"additional","affiliation":[{"name":"D\u00e9partement de biologie et pathologie des tumeurs, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Ghiringhelli","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019oncologie m\u00e9dicale, INSERM LNC U1231, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"O'Driscoll","sequence":"additional","affiliation":[{"name":"Human DNA Damage Response Disorders Group, University of Sussex, Genome Damage and Stability Centre, Brighton, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Service d\u2019Oncog\u00e9n\u00e9tique, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Nambot","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, Dijon, France"},{"name":"Service d\u2019Oncog\u00e9n\u00e9tique, Centre Georges Fran\u00e7ois Leclerc, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement de l\u2019Interr\u00e9gion Est, H\u00f4pital d\u2019Enfants, CHU Dijon Bourgogne, Dijon, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD), CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7892","published-online":{"date-parts":[[2023,2,7]]},"reference":[{"key":"1","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1186\/s13059-016-1110-1","article-title":"New insights into the generation and role of de novo mutations in health and disease","volume":"1","author":"Hoischen","year":"2016","journal-title":"Genome Biol"},{"key":"2","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"53","author":"Kosmicki","year":"2016","journal-title":"Nature"},{"key":"3","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","volume":"1","author":"MacKenzie","year":"2013","journal-title":"Nat Rev Genet"},{"key":"4","doi-asserted-by":"publisher","first-page":"11883","DOI":"10.1038\/ncomms11883","article-title":"Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer","volume":"7","author":"Dunlop","year":"2016","journal-title":"Nat Commun"},{"key":"5","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1038\/ng.861","article-title":"Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma","volume":"4","author":"Inglada-P\u00e9rez","year":"2011","journal-title":"Nat Genet"},{"key":"6","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/ng.2552","article-title":"Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas","volume":"4","author":"Evans","year":"2013","journal-title":"Nat Genet"},{"key":"7","doi-asserted-by":"publisher","first-page":"e0178450","DOI":"10.1371\/journal.pone.0178450","article-title":"Reanalysis of BRCA1\/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability","volume":"1","author":"Tainsky","year":"2017","journal-title":"PLoS One"},{"key":"8","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/s10689-017-9984-y","article-title":"A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers","volume":"1","author":"Else","year":"2017","journal-title":"Fam Cancer"},{"key":"9","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/humu.22489","article-title":"Germline mutations of inhibins in early-onset ovarian epithelial tumors","volume":"3","author":"Tinat","year":"2014","journal-title":"Hum Mutat"},{"key":"10","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1001\/jamaoncol.2018.2956","article-title":"Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing","volume":"5","author":"Dolinsky","year":"2019","journal-title":"JAMA Oncol"},{"key":"11","doi-asserted-by":"publisher","first-page":"e1002894","DOI":"10.1371\/journal.pgen.1002894","article-title":"Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles","volume":"8","author":"James","year":"2012","journal-title":"PLoS Genet"},{"key":"12","doi-asserted-by":"publisher","first-page":"1918","DOI":"10.1002\/ijc.27841","article-title":"An international comparison of male and female breast cancer incidence rates","volume":"13","author":"Cook","year":"2013","journal-title":"Int J Cancer"},{"key":"13","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1200\/JCO.2009.25.5729","article-title":"Multidisciplinary meeting on male breast cancer: summary and research recommendations","volume":"2","author":"McCaskill-Stevens","year":"2010","journal-title":"J Clin Oncol"},{"key":"14","unstructured":"Institut national du cancer. Oncog\u00e9n\u00e9tique en 2018 - Consultations, laboratoires et suivi (2017 et 2018). Available 2018 Apr 12, from http:\/\/www.e-cancer.fr\/Expertises-et-publications\/Catalogue-des-publications\/Oncogenetique-en-2016-Consultations-laboratoires-et-suivi."},{"key":"15","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1111\/his.12862","article-title":"The cancer genetics and pathology of male breast cancer","volume":"6","author":"Fox","year":"2016","journal-title":"Histopathology"},{"key":"16","first-page":"342","article-title":"BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy","volume":"6","author":"Bianchi","year":"2003","journal-title":"Cancer Res"},{"key":"17","first-page":"313","article-title":"Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population","volume":"6","author":"Anton-Culver","year":"1997","journal-title":"Am J Hum Genet"},{"key":"18","first-page":"995","article-title":"High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history","volume":"5","author":"Olah","year":"1999","journal-title":"Cancer Res"},{"key":"19","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/s10549-016-4085-4","article-title":"Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results","volume":"16","author":"LaDuca","year":"2017","journal-title":"Breast Cancer Res Treat"},{"key":"20","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1007\/s10689-015-9814-z","article-title":"BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study","volume":"1","author":"Garcia-Casado","year":"2015","journal-title":"Fam Cancer"},{"key":"21","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1093\/jnci\/djm203","article-title":"Breast cancer risk among male BRCA1 and BRCA2 mutation carriers","volume":"9","author":"Chen","year":"2007","journal-title":"J Natl Cancer Inst"},{"key":"22","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1038\/ng879","article-title":"Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations","volume":"3","author":"Bartels","year":"2002","journal-title":"Nat Genet"},{"key":"23","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1056\/NEJMoa1400382","article-title":"Breast-cancer risk in families with mutations in PALB2","volume":"37","author":"Teo","year":"2014","journal-title":"N Engl J Med"},{"key":"24","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1007\/s10549-008-0162-7","article-title":"CHEK2 1100delC and male breast cancer in the Netherlands","volume":"11","author":"Schutte","year":"2009","journal-title":"Breast Cancer Res Treat"},{"key":"25","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1002\/ijc.32106","article-title":"Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy","volume":"14","author":"Capalbo","year":"2019","journal-title":"Int J Cancer"},{"key":"26","first-page":"20","article-title":"Epidemiology of male breast cancer","volume":"1","author":"Swede","year":"2005","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"27","unstructured":"Orphanet: Syndrome de Klinefelter. Available 2016 Jul 25, from http:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=FR&Expert=484."},{"key":"28","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/ng0597-64","article-title":"Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome","volume":"1","author":"Parsons","year":"1997","journal-title":"Nat Genet"},{"key":"29","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1136\/jmg.38.3.159","article-title":"Male breast cancer in Cowden syndrome patients with germline PTEN mutations","volume":"3","author":"Olopade","year":"2001","journal-title":"J Med Genet"},{"key":"30","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1200\/JCO.2011.39.5590","article-title":"Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study","volume":"3","author":"Southey","year":"2012","journal-title":"J Clin Oncol"},{"key":"31","doi-asserted-by":"publisher","first-page":"2214","DOI":"10.1158\/1078-0432.CCR-09-3058","article-title":"Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry","volume":"1","author":"Suthers","year":"2010","journal-title":"Clin Cancer Res"},{"key":"32","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1023\/a:1006030116357","article-title":"Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome","volume":"5","author":"Lynch","year":"1999","journal-title":"Breast Cancer Res Treat"},{"key":"33","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/sj.bjc.6604860","article-title":"The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome","volume":"10","author":"Yu","year":"2009","journal-title":"Br J Cancer"},{"key":"34","doi-asserted-by":"publisher","first-page":"4345","DOI":"10.1038\/sj.emboj.7600896","article-title":"Distinct modes of ATR activation after replication stress and DNA double-strand breaks in Caenorhabditis elegans","volume":"2","author":"Boulton","year":"2005","journal-title":"EMBO J"},{"key":"35","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1101\/gad.1067403","article-title":"Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance","volume":"1","author":"Baltimore","year":"2003","journal-title":"Genes Dev"},{"key":"36","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1101\/gad.1301205","article-title":"Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint","volume":"1","author":"Cimprich","year":"2005","journal-title":"Genes Dev"},{"key":"37","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1016\/j.celrep.2016.01.018","article-title":"ATRIP Deacetylation by SIRT2 Drives ATR Checkpoint Activation by Promoting Binding to RPA-ssDNA","volume":"1","author":"Dhere","year":"2016","journal-title":"Cell Rep"},{"key":"38","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1038\/nrg1746","article-title":"The role of double-strand break repair - insights from human genetics","volume":"7","author":"Jeggo","year":"2006","journal-title":"Nat Rev Genet"},{"key":"39","doi-asserted-by":"publisher","first-page":"74","DOI":"10.3390\/genes8020074","article-title":"The Intra-S Checkpoint Responses to DNA Damage","volume":"8","author":"Rhind","year":"2017","journal-title":"Genes (Basel)"},{"key":"40","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/s0092-8674(02)01113-3","article-title":"ATR regulates fragile site stability","volume":"11","author":"Glover","year":"2002","journal-title":"Cell"},{"key":"41","doi-asserted-by":"publisher","first-page":"1768","DOI":"10.1158\/0008-5472.CAN-08-3016","article-title":"Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR\/BRCA1 pathway","volume":"6","author":"Komatsu","year":"2009","journal-title":"Cancer Res"},{"key":"42","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.yexcr.2014.09.030","article-title":"DNA replication stress: causes, resolution and disease","volume":"32","author":"Loizou","year":"2014","journal-title":"Exp Cell Res"},{"key":"43","first-page":"397","article-title":"ATR disruption leads to chromosomal fragmentation and early embryonic lethality","volume":"1","author":"Baltimore","year":"2000","journal-title":"Genes Dev"},{"key":"44","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1172\/JCI58928","article-title":"Oncogenic stress sensitizes murine cancers to hypomorphic suppression of ATR","volume":"12","author":"Brown","year":"2012","journal-title":"J Clin Invest"},{"key":"45","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1016\/j.cell.2011.02.013","article-title":"Hallmarks of cancer: the next generation","volume":"14","author":"Weinberg","year":"2011","journal-title":"Cell"},{"key":"46","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1101\/gad.452308","article-title":"ATR signaling can drive cells into senescence in the absence of DNA breaks","volume":"2","author":"Fernandez-Capetillo","year":"2008","journal-title":"Genes Dev"},{"key":"47","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1074\/jbc.M410873200","article-title":"Ataxia telangiectasia mutated (ATM) and ATM and Rad3-related protein exhibit selective target specificities in response to different forms of DNA damage","volume":"28","author":"O\u2019Reilly","year":"2005","journal-title":"J Biol Chem"},{"key":"48","doi-asserted-by":"publisher","first-page":"9693","DOI":"10.1158\/0008-5472.CAN-10-2286","article-title":"Combining ATR suppression with oncogenic Ras synergistically increases genomic instability, causing synthetic lethality or tumorigenesis in a dosage-dependent manner","volume":"7","author":"Brown","year":"2010","journal-title":"Cancer Res"},{"key":"49","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1038\/onc.2011.358","article-title":"Efficacy of CHK inhibitors as single agents in MYC-driven lymphoma cells","volume":"3","author":"McArthur","year":"2012","journal-title":"Oncogene"},{"key":"50","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1038\/nsmb.2189","article-title":"Exploiting oncogene-induced replicative stress for the selective killing of Myc-driven tumors","volume":"1","author":"Fernandez-Capetillo","year":"2011","journal-title":"Nat Struct Mol Biol"},{"key":"51","first-page":"1307","article-title":"Inhibition of ATR downregulates PD-L1 and sensitizes tumor cells to T cell-mediated killing","volume":"8","author":"Hung","year":"2018","journal-title":"Am J Cancer Res"},{"key":"52","doi-asserted-by":"publisher","first-page":"3392","DOI":"10.1158\/1078-0432.CCR-18-1821","article-title":"ATR Inhibition Potentiates the Radiation-induced Inflammatory Tumor Microenvironment","volume":"2","author":"Ragulan","year":"2019","journal-title":"Clin Cancer Res"},{"key":"53","doi-asserted-by":"publisher","first-page":"9092","DOI":"10.1073\/pnas.161281798","article-title":"ATR inhibition selectively sensitizes G1 checkpoint-deficient cells to lethal premature chromatin condensation","volume":"9","author":"Schreiber","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"54","doi-asserted-by":"publisher","first-page":"5678","DOI":"10.1093\/nar\/gkp593","article-title":"Inhibition of ATR protein kinase activity by schisandrin B in DNA damage response","volume":"3","author":"Konishi","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"55","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.3390\/ph3051311","article-title":"Prospects for the Use of ATR Inhibitors to Treat Cancer","volume":"3","author":"Kaufmann","year":"2010","journal-title":"Pharmaceuticals (Basel)"},{"key":"56","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.ccell.2021.02.014","article-title":"Therapeutic targeting of ATR yields durable regressions in small cell lung cancers with high replication stress","volume":"3","author":"Puc","year":"2021","journal-title":"Cancer Cell"},{"key":"57","doi-asserted-by":"publisher","first-page":"pl1","DOI":"10.1126\/scisignal.2004088","article-title":"Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal","volume":"6","author":"Schultz","year":"2013","journal-title":"Sci Signal"},{"key":"58","doi-asserted-by":"publisher","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":"Goldberg","year":"2012","journal-title":"Cancer Discov"},{"key":"59","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1002\/humu.22245","article-title":"Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations","volume":"3","author":"Durandy","year":"2013","journal-title":"Hum Mutat"},{"key":"60","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1038\/ng1129","article-title":"A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome","volume":"3","author":"Goodship","year":"2003","journal-title":"Nat Genet"},{"key":"61","doi-asserted-by":"publisher","first-page":"e1002945","DOI":"10.1371\/journal.pgen.1002945","article-title":"Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome","volume":"8","author":"Vasudevan","year":"2012","journal-title":"PLoS Genet"},{"key":"62","doi-asserted-by":"publisher","first-page":"e1003709","DOI":"10.1371\/journal.pgen.1003709","article-title":"Genic intolerance to functional variation and the interpretation of personal genomes","volume":"9","author":"Goldstein","year":"2013","journal-title":"PLoS Genet"},{"key":"63","doi-asserted-by":"publisher","first-page":"R495","DOI":"10.1186\/bcr1037","article-title":"Mutation analysis of the ATR gene in breast and ovarian cancer families","volume":"7","author":"Winqvist","year":"2005","journal-title":"Breast Cancer Res"},{"key":"64","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1186\/1471-2407-6-230","article-title":"Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast\/ovarian cancer families","volume":"6","author":"Plante","year":"2006","journal-title":"BMC Cancer"},{"key":"65","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1200\/JCO.2015.63.7454","article-title":"Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care","volume":"3","author":"Campbell","year":"2016","journal-title":"J Clin Oncol"},{"key":"66","volume-title":"Identifying New Genes for Inherited Breast Cancer by Exome Sequencing","author":"Spurrell","year":"2013"},{"key":"67","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.1002\/ijc.31921","article-title":"Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing","volume":"14","author":"Lonjou","year":"2019","journal-title":"Int J Cancer"},{"key":"68","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.ceb.2005.03.002","article-title":"Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells","volume":"1","author":"Maquat","year":"2005","journal-title":"Curr Opin Cell Biol"},{"key":"69","doi-asserted-by":"publisher","first-page":"3067","DOI":"10.1038\/emboj.2009.281","article-title":"Emerging common themes in regulation of PIKKs and PI3Ks","volume":"2","author":"Halazonetis","year":"2009","journal-title":"EMBO J"},{"key":"70","doi-asserted-by":"publisher","first-page":"1416","DOI":"10.1101\/gad.1685108","article-title":"How ATR turns on: TopBP1 goes on ATRIP with ATR","volume":"2","author":"Elledge","year":"2008","journal-title":"Genes Dev"},{"key":"71","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1126\/science.1065521","article-title":"ATR and ATRIP: partners in checkpoint signaling","volume":"29","author":"Elledge","year":"2001","journal-title":"Science"},{"key":"72","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/s0960-9822(00)00447-4","article-title":"Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice","volume":"1","author":"Hoeijmakers","year":"2000","journal-title":"Curr Biol"},{"key":"73","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1038\/labinvest.3700235","article-title":"Alterations of DNA damage-response genes ATM and ATR in pyothorax-associated lymphoma","volume":"8","author":"Aozasa","year":"2005","journal-title":"Lab Invest"},{"key":"74","first-page":"999","article-title":"ATR alterations in Hodgkin\u2019s lymphoma","volume":"1","author":"Aozasa","year":"2008","journal-title":"Oncol Rep"},{"key":"75","doi-asserted-by":"publisher","first-page":"7091","DOI":"10.1158\/0008-5472.CAN-05-1019","article-title":"Heterozygous ATR mutations in mismatch repair-deficient cancer cells have functional significance","volume":"6","author":"Cliby","year":"2005","journal-title":"Cancer Res"},{"key":"76","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1002\/gcc.20486","article-title":"Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase 1 DNA damage response axis in colon cancers","volume":"4","author":"Cliby","year":"2007","journal-title":"Genes Chromosomes Cancer"},{"key":"77","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1086\/518696","article-title":"Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling","volume":"8","author":"Jeggo","year":"2007","journal-title":"Am J Hum Genet"},{"key":"78","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/j.ajhg.2012.01.007","article-title":"Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome","volume":"9","author":"McGrath","year":"2012","journal-title":"Am J Hum Genet"},{"key":"79","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/jnci\/dji141","article-title":"Cancer risks and mortality in heterozygous ATM mutation carriers","volume":"9","author":"Easton","year":"2005","journal-title":"J Natl Cancer Inst"},{"key":"80","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1038\/ng1837","article-title":"ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles","volume":"3","author":"Eccles","year":"2006","journal-title":"Nat Genet"},{"key":"81","doi-asserted-by":"publisher","first-page":"R73","DOI":"10.1186\/bcr2919","article-title":"Rare variants in the ATM gene and risk of breast cancer","volume":"1","author":"and","year":"2011","journal-title":"Breast Cancer Res"},{"key":"82","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1038\/ng.420","article-title":"A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging","volume":"4","author":"Fernandez-Capetillo","year":"2009","journal-title":"Nat Genet"},{"key":"83","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1038\/nature10275","article-title":"A continuum model for tumour suppression","volume":"47","author":"Pandolfi","year":"2011","journal-title":"Nature"},{"key":"84","doi-asserted-by":"publisher","first-page":"pkab044","DOI":"10.1093\/jncics\/pkab044","article-title":"Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network","volume":"5","author":"Wiesner","year":"2021","journal-title":"JNCI Cancer Spectr"},{"key":"85","doi-asserted-by":"publisher","first-page":"2308","DOI":"10.1002\/humu.24491","article-title":"SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing","volume":"4","author":"Vaur","year":"2022","journal-title":"Hum Mutat"},{"key":"86","doi-asserted-by":"publisher","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"3","author":"B\u00e9roud","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"87","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"4","author":"Shendure","year":"2014","journal-title":"Nat Genet"},{"key":"88","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Sunyaev","year":"2010","journal-title":"Nat Methods"},{"key":"89","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"1","author":"Sidow","year":"2005","journal-title":"Genome Res"}],"container-title":["Oncotarget"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.28358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T13:38:46Z","timestamp":1675777126000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.28358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,7]]},"references-count":89,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,2,7]]}},"alternative-id":["28358"],"URL":"https:\/\/doi.org\/10.18632\/oncotarget.28358","relation":{},"ISSN":["1949-2553"],"issn-type":[{"value":"1949-2553","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,7]]}}}