{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:58:52Z","timestamp":1788872332350,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T00:00:00Z","timestamp":1398729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"General Secretariat of Research and Technology, Ministry of Education, Lifelong Learning and Religious Affairs, Hellenic Republic (Greece)","award":["ARISTEIA I \/ 39"],"award-info":[{"award-number":["ARISTEIA I \/ 39"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"\n Currently, hereditary breast cancer is being attributed to more than 20 genes of differing penetrance. Although\n \n BRCA1<\/jats:styled-content>\n <\/jats:italic>\n and\n \n BRCA2<\/jats:styled-content>\n <\/jats:italic>\n are still the genes of reference for breast cancer susceptibility, extreme breast cancer phenotypes may be the result of deleterious alleles of other genes. Here, we report three families with early\u2010onset breast cancer that were initially referred for\n \n BRCA1<\/jats:styled-content>\n <\/jats:italic>\n \/\n \n BRCA2<\/jats:styled-content>\n <\/jats:italic>\n genetic testing. They were diagnosed with breast cancer at an extraordinarily early age. On the basis of their extensive family history, which included multiple cancer types, and their Her2 status, they were suspected for Li\u2013Fraumeni syndrome. Indeed, all three probands were found to harbor\n \n TP53<\/jats:styled-content>\n <\/jats:italic>\n tumor suppressor gene mutations. These included p.\n C275X<\/jats:styled-content>\n , described here for the first time, as well as p.\n R213X<\/jats:styled-content>\n and p.\n Y220C<\/jats:styled-content>\n , which have been described in the past. Our conclusion is that decisions on genetic analysis for inherited early onset breast cancer should always be based on detailed pedigree information, combined with Her2 status.\n <\/jats:p>","DOI":"10.1111\/cge.12397","type":"journal-article","created":{"date-parts":[[2014,4,7]],"date-time":"2014-04-07T04:58:36Z","timestamp":1396846716000},"page":"383-387","source":"Crossref","is-referenced-by-count":6,"title":["Genetic evaluation based on family history and Her2 status correctly identifies\n \n TP53<\/scp>\n <\/i>\n mutations in very early onset breast cancer cases"],"prefix":"10.1111","volume":"87","author":[{"given":"F.","family":"Fostira","sequence":"first","affiliation":[{"name":"Molecular Diagnostics Laboratory, INRaSTES National Center for Scientific Research \u201cDemokritos\u201d Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Konstantopoulou","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory, INRaSTES National Center for Scientific Research \u201cDemokritos\u201d Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Mavroudis","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology University Hospital of Heraklion Crete Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Tryfonopoulos","sequence":"additional","affiliation":[{"name":"2nd Department of Medical Oncology \u201cSaint Savvas\u201d Anticancer Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Yannoukakos","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory, INRaSTES National Center for Scientific Research \u201cDemokritos\u201d Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.E.","family":"Voutsinas","sequence":"additional","affiliation":[{"name":"Laboratory of Environmental Mutagenesis and Carcinogenesis, Institute of Biosciences and Applications National Center for Scientific Research \u201cDemokritos\u201d Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,29]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"5358","article-title":"A cancer family syndrome in twenty\u2010four kindreds","volume":"48","author":"Li FP","year":"1988","journal-title":"Cancer Res"},{"key":"e_1_2_6_3_1","first-page":"83","article-title":"Germ\u2010line p53 mutations predispose to a wide spectrum of early\u2010onset cancers","volume":"10","author":"Nichols KE","year":"2001","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2005.11.032"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.16.6959"},{"key":"e_1_2_6_6_1","first-page":"747318","article-title":"Hereditary breast cancer: the era of new susceptibility genes","author":"Apostolou P","year":"2013","journal-title":"Biomed Res Int"},{"key":"e_1_2_6_7_1","first-page":"1","article-title":"Tumors associated with p53 germline mutations: a synopsis of 91 families","volume":"150","author":"Kleihues P","year":"1997","journal-title":"Am J Pathol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/90.8.606"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207714"},{"key":"e_1_2_6_10_1","first-page":"6643","article-title":"Li\u2010Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype","volume":"63","author":"Olivier M","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204621"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1167"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.078113"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.26377"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.43"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-09-0851"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-009-9287-z"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12397","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T07:59:12Z","timestamp":1696319952000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,29]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/cge.12397"],"URL":"https:\/\/doi.org\/10.1111\/cge.12397","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,29]]}}}