{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:56:13Z","timestamp":1790880973274,"version":"4.1.0"},"reference-count":55,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,11,13]],"date-time":"2018-11-13T00:00:00Z","timestamp":1542067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004097","name":"Fondation ARC pour la Recherche sur le Cancer","doi-asserted-by":"publisher","award":["PJA 20151203365"],"award-info":[{"award-number":["PJA 20151203365"]}],"id":[{"id":"10.13039\/501100004097","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2019,4,15]]},"abstract":"<jats:p>Pathogenic variants in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of cost\u2010effectiveness, multigene panel testing is often performed even if the clinical utility of testing most of the genes remains questionable. The purpose of our study was to assess the contribution of rare, deleterious\u2010predicted variants in DNA repair genes in familial breast cancer (BC) in a well\u2010characterized and homogeneous population. We analyzed 113 DNA repair genes selected from either an exome sequencing or a candidate gene approach in the GENESIS study, which includes familial BC cases with no <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> mutation and having a sister with BC (<jats:italic>N<\/jats:italic> = 1,207), and general population controls (<jats:italic>N<\/jats:italic> = 1,199). Sequencing data were filtered for rare loss\u2010of\u2010function variants (LoF) and likely deleterious missense variants (MV). We confirmed associations between LoF and MV in <jats:italic>PALB2<\/jats:italic>, <jats:italic>ATM<\/jats:italic> and <jats:italic>CHEK2<\/jats:italic> and BC occurrence. We also identified for the first time associations between <jats:italic>FANCI<\/jats:italic>, <jats:italic>MAST1<\/jats:italic>, <jats:italic>POLH<\/jats:italic> and <jats:italic>RTEL1<\/jats:italic> and BC susceptibility. Unlike other associated genes, carriers of an <jats:italic>ATM<\/jats:italic> LoF had a significantly higher risk of developing BC than carriers of an <jats:italic>ATM<\/jats:italic> MV (OR<jats:sub>LoF<\/jats:sub> = 17.4 <jats:italic>vs.<\/jats:italic> OR<jats:sub>MV<\/jats:sub> = 1.6; <jats:italic>p<\/jats:italic><jats:sub>\n<jats:italic>Het<\/jats:italic><\/jats:sub> = 0.002). Hence, our approach allowed us to specify BC relative risks associated with deleterious\u2010predicted variants in <jats:italic>PALB2<\/jats:italic>, <jats:italic>ATM<\/jats:italic> and <jats:italic>CHEK2<\/jats:italic> and to add <jats:italic>MAST1<\/jats:italic>, <jats:italic>POLH<\/jats:italic>, <jats:italic>RTEL1<\/jats:italic> and <jats:italic>FANCI<\/jats:italic> to the list of DNA repair genes possibly involved in BC susceptibility. We also highlight that different types of variants within the same gene can lead to different risk estimates.<\/jats:p>","DOI":"10.1002\/ijc.31921","type":"journal-article","created":{"date-parts":[[2018,10,10]],"date-time":"2018-10-10T18:06:22Z","timestamp":1539194782000},"page":"1962-1974","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":78,"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"],"prefix":"10.1002","volume":"144","author":[{"given":"Elodie","family":"Girard","sequence":"first","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Eon\u2010Marchais","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Olaso","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Laure","family":"Renault","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Damiola","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biopathologie Centre L\u00e9on B\u00e9rard  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Gabrielle","family":"Dondon","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Barjhoux","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biopathologie Centre L\u00e9on B\u00e9rard  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Goidin","sequence":"additional","affiliation":[{"name":"Life Sciences and Diagnostics Group Agilent Technologies France  Les Ulis France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Meyer","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Le Gal","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juana","family":"Beauvallet","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noura","family":"Mebirouk","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Lonjou","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Coignard","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"},{"name":"Universit\u00e9 Paris Sud  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgane","family":"Marcou","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"Cavaciuti","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Baulard","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Th\u00e9r\u00e8se","family":"Bihoreau","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Cohen\u2010Haguenauer","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint\u2010Louis  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Leroux","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique CHU de Grenoble, H\u00f4pital Couple\u2010Enfant  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clotilde","family":"Penet","sequence":"additional","affiliation":[{"name":"Consultation d'Oncog\u00e9n\u00e9tique Institut Jean\u2010Godinot &amp; ICC Courlancy  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Fert\u2010Ferrer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier de Chamb\u00e9ry  Chamb\u00e9ry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystelle","family":"Colas","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re APHP  Paris France"},{"name":"Service de G\u00e9n\u00e9tique, Institut Curie  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Universitaire de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Eisinger","sequence":"additional","affiliation":[{"name":"Institut Paoli Calmette, D\u00e9partement d'Anticipation et de Suivi des Cancers, Oncog\u00e9n\u00e9tique Clinique Institut Paoli\u2010Calmettes &amp; Aix Marseille Universit\u00e9, Inserm, IRD, SESSTIM  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Adenis","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Oscar\u2010Lambret  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Fajac","sequence":"additional","affiliation":[{"name":"Service d'Oncog\u00e9n\u00e9tique, H\u00f4pital Tenon  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Gladieff","sequence":"additional","affiliation":[{"name":"Service d'Oncologie M\u00e9dicale Institut Claudius Regaud \u2013 IUCT\u2010Oncopole  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Tinat","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Universitaire de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Floquet","sequence":"additional","affiliation":[{"name":"Institut Bergoni\u00e9  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Chiesa","sequence":"additional","affiliation":[{"name":"CHRU H\u00f4pital Caremeau  N\u00eemes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Giraud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Hospices Civils de Lyon, Groupement Hospitalier EST  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Mortemousque","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pital Bretonneau  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Soubrier","sequence":"additional","affiliation":[{"name":"H\u00f4pital Tenon  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Audebert\u2010Bellanger","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale en P\u00e9diatrie CHU Brest H\u00f4pital Morvan  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marc","family":"Limacher","sequence":"additional","affiliation":[{"name":"Service d'Onco\u2010h\u00e9matologie H\u00f4pital Pasteur  Colmar France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Lasset","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Claude Bernard Lyon 1, Villeurbanne; CNRS UMR 5558 Unit\u00e9 de Pr\u00e9vention et Epid\u00e9miologie G\u00e9n\u00e9tique  Lyon Centre, L\u00e9on B\u00e9rard France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Lejeune\u2010Dumoulin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Guy Fontaine H\u00f4pital Jeanne de Flandre  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dreyfus","sequence":"additional","affiliation":[{"name":"Clinique Sainte Catherine, Avignon &amp; CHU de Grenoble, D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Couple\u2010Enfant  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves\u2010Jean","family":"Bignon","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Clermont Auvergne; Inserm, U1240 Centre Jean Perrin  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Longy","sequence":"additional","affiliation":[{"name":"Institut Bergoni\u00e9  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Pujol","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale et Oncog\u00e9n\u00e9tique H\u00f4pital Arnaud de Villeneuve, CHU Montpellier &amp; INSERM 896  CRCM Val d'Aurelle, Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Venat\u2010Bouvet","sequence":"additional","affiliation":[{"name":"Service d'Oncologie M\u00e9dicale H\u00f4pital Universitaire Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Bonadona","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Claude Bernard Lyon 1, Villeurbanne; CNRS UMR 5558 Unit\u00e9 de Pr\u00e9vention et Epid\u00e9miologie G\u00e9n\u00e9tique  Lyon Centre, L\u00e9on B\u00e9rard France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascaline","family":"Berthet","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Pathologie Gyn\u00e9cologique Centre Fran\u00e7ois Baclesse  Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Luporsi","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique UF4128 CHR Metz\u2010Thionville H\u00f4pital de Mercy  Metz France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Maugard","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux Universitaires de Strasbourg, UF1422 Oncog\u00e9n\u00e9tique mol\u00e9culaire Laboratoire d'Oncobiologie &amp; UF6948 Oncog\u00e9n\u00e9tique Evaluation familiale et suivi  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Nogu\u00e8s","sequence":"additional","affiliation":[{"name":"Institut Paoli Calmette, D\u00e9partement d'Anticipation et de Suivi des Cancers, Oncog\u00e9n\u00e9tique Clinique Institut Paoli\u2010Calmettes &amp; Aix Marseille Universit\u00e9, Inserm, IRD, SESSTIM  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Delnatte","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Oncog\u00e9n\u00e9tique Centre Ren\u00e9 Gauducheau  Nantes, Saint Herblain France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fricker","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Oncologie Centre Paul Strauss  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gesta","sequence":"additional","affiliation":[{"name":"Service d'Oncog\u00e9n\u00e9tique R\u00e9gional Poitou\u2010Charentes  Niort France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Institut GIMI, CHU de Dijon, H\u00f4pital d'Enfants Oncog\u00e9n\u00e9tique &amp; Centre de Lutte contre le Cancer Georges Fran\u00e7ois Leclerc  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Lortholary","sequence":"additional","affiliation":[{"name":"Service d'Oncologie M\u00e9dicale Centre Catherine de Sienne  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Buecher","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Institut Curie  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Caron","sequence":"additional","affiliation":[{"name":"Gustave Roussy, Universit\u00e9 Paris\u2010Saclay D\u00e9partement de M\u00e9decine Oncologique  Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Gauthier\u2010Villars","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Institut Curie  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Coupier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale et Oncog\u00e9n\u00e9tique H\u00f4pital Arnaud de Villeneuve, CHU Montpellier &amp; INSERM 896  CRCM Val d'Aurelle, Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Servant","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Mazoyer","sequence":"additional","affiliation":[{"name":"Inserm, U1028, CNRS UMR5292 Centre de Recherche en Neurosciences de Lyon  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine Institut de Biologie Fran\u00e7ois Jacob  CEA, Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Stoppa\u2010Lyonnet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Institut Curie  Paris France"},{"name":"Inserm, U830 Institut Curie  Paris France"},{"name":"Universit\u00e9 Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Andrieu","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7404-4549","authenticated-orcid":false,"given":"Fabienne","family":"Lesueur","sequence":"additional","affiliation":[{"name":"Inserm  Paris France"},{"name":"Institut Curie  Paris France"},{"name":"Mines ParisTech  Fontainebleau France"},{"name":"PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)90806-5"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6604305"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-011-0042-4"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.63.7454"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2796"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1959"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-3958"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1400382"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.018"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1837"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2810"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.569"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0021-2"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.027"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-14-0212"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr3669"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101191"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-016-3944-3"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1501341"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.26390"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.2217\/bmm.13.143"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-015-2028-9"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.20.8390"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_8_26_1","first-page":"3907","article-title":"G. Haplotype\u2010based variant detection from short\u2010read sequencing. ar Xiv. preprint","volume":"1207","author":"Garrison EM","year":"2012","journal-title":"ArXiv"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_8_32_1","first-page":"20","article-title":"Sunyaev SR. predicting functional effect of human missense mutations using poly Phen\u20102. Curr Protoc Hum Genet","volume":"7","author":"Adzhubei I","year":"2013","journal-title":"Chapter 7: Unit"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20896"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.75"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2580"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2003.00124.x"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38340"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-017-0244-7"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2017.00449"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00040115"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201408-1510OC"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3278"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.167056"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2810"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22022"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr3392"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20415"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2919"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103839"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2013.421"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-016-0762-9"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21478"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_2_8_56_1","first-page":"1","article-title":"Using ClinVar as a resource to support variant interpretation","volume":"89","author":"Harrison SM","year":"2016","journal-title":"Curr Protoc Hum Genet"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.31921","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.31921","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ijc.31921","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.31921","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T03:47:37Z","timestamp":1694231257000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.31921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,13]]},"references-count":55,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,4,15]]}},"alternative-id":["10.1002\/ijc.31921"],"URL":"https:\/\/doi.org\/10.1002\/ijc.31921","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,13]]},"assertion":[{"value":"2018-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}