{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T18:18:04Z","timestamp":1781029084509,"version":"3.54.1"},"reference-count":47,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T00:00:00Z","timestamp":1362960000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0058182","type":"journal-article","created":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T21:12:54Z","timestamp":1363036374000},"page":"e58182","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":23,"title":["Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases"],"prefix":"10.1371","volume":"8","author":[{"given":"Alexandra V.","family":"Stavropoulou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florentia","family":"Fostira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maroulio","family":"Pertesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianthi","family":"Tsitlaidou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerassimos E.","family":"Voutsinas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Triantafyllidou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aristotelis","family":"Bamias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meletios A.","family":"Dimopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Timotheadou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitrios","family":"Pectasides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Klouvas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Papadimitriou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Makatsoris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Pentheroudakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerasimos","family":"Aravantinos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassilis","family":"Karydakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drakoulis","family":"Yannoukakos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Fountzilas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Konstantopoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2013,3,11]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1126\/science.1088759","article-title":"Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2","volume":"302","author":"MC King","year":"2003","journal-title":"Science"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1086\/301749","article-title":"Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium","volume":"62","author":"D Ford","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/375033","article-title":"Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies","volume":"72","author":"A Antoniou","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1158\/1078-0432.CCR-1029-3","article-title":"Pathology of ovarian cancers in BRCA1 and BRCA2 carriers","volume":"10","author":"SR Lakhani","year":"2004","journal-title":"Clin Cancer Res"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1200\/JCO.2007.11.6905","article-title":"Effect of BRCA1\/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer","volume":"26","author":"A Chetrit","year":"2008","journal-title":"J Clin Oncol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1001\/jama.2011.1456","article-title":"Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer","volume":"306","author":"D Yang","year":"2011","journal-title":"JAMA"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1093\/annonc\/mdq628","article-title":"Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients","volume":"22","author":"PM Vencken","year":"2011","journal-title":"Ann Oncol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1056\/NEJMoa0900212","article-title":"Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers","volume":"361","author":"PC Fong","year":"2009","journal-title":"N Engl J Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/gyno.2001.6279","article-title":"The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer","volume":"82","author":"P Watson","year":"2001","journal-title":"Gynecol Oncol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1038\/bjc.2012.87","article-title":"Mutation analysis of RAD51D in non-BRCA1\/2 ovarian and breast cancer families","volume":"106","author":"DJ Osher","year":"2012","journal-title":"Br J Cancer"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/ng.893","article-title":"Germline mutations in RAD51D confer susceptibility to ovarian cancer","volume":"43","author":"C Loveday","year":"2011","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/ng.569","article-title":"Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene","volume":"42","author":"A Meindl","year":"2010","journal-title":"Nat Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"18032","DOI":"10.1073\/pnas.1115052108","article-title":"Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing","volume":"108","author":"T Walsh","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.ygyno.2011.01.020","article-title":"Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer","volume":"121","author":"S Zhang","year":"2011","journal-title":"Gynecol Oncol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1002\/cncr.21536","article-title":"BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases","volume":"104","author":"T Pal","year":"2005","journal-title":"Cancer"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1086\/302853","article-title":"BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer","volume":"66","author":"R Moslehi","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ejhg.2010.203","article-title":"On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations","volume":"19","author":"N Hamel","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s10549-007-9571-2","article-title":"Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast\/ovarian cancer patients","volume":"107","author":"I Konstantopoulou","year":"2008","journal-title":"Breast Cancer Res Treat"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/s10549-007-9729-y","article-title":"G1738R is a BRCA1 founder mutation in Greek breast\/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history","volume":"110","author":"T Anagnostopoulos","year":"2008","journal-title":"Breast Cancer Res Treat"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.ejca.2006.09.021","article-title":"Novel genomic rearrangements in the BRCA1 gene detected in Greek breast\/ovarian cancer patients","volume":"43","author":"S Armaou","year":"2007","journal-title":"Eur J Cancer"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/sj.bjc.6605115","article-title":"Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases","volume":"101","author":"S Armaou","year":"2009","journal-title":"Br J Cancer"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"4880","DOI":"10.1158\/0008-5472.CAN-09-4563","article-title":"Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays","volume":"70","author":"MS Lee","year":"2010","journal-title":"Cancer Res"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mrfmmm.2008.09.017","article-title":"Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1","volume":"660","author":"M Carvalho","year":"2009","journal-title":"Mutat Res"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"2737","DOI":"10.1093\/hmg\/ddh301","article-title":"Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition","volume":"13","author":"A Pavlicek","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"20080","DOI":"10.1074\/jbc.M109.088922","article-title":"Toward classification of BRCA1 missense variants using a biophysical approach","volume":"285","author":"PJ Rowling","year":"2010","journal-title":"J Biol Chem"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.ygyno.2011.10.027","article-title":"BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia","volume":"124","author":"AO Rodriguez","year":"2012","journal-title":"Gynecol Oncol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1158\/1078-0432.CCR-07-4806","article-title":"BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark","volume":"14","author":"M Soegaard","year":"2008","journal-title":"Clin Cancer Res"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"2654","DOI":"10.1200\/JCO.2011.39.8545","article-title":"BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group","volume":"30","author":"K Alsop","year":"2012","journal-title":"J Clin Oncol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.ygyno.2007.09.035","article-title":"High frequency of BRCA1\/2 germline mutations in consecutive ovarian cancer patients in Poland","volume":"108","author":"I Brozek","year":"2008","journal-title":"Gynecol Oncol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ejca.2003.09.016","article-title":"One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden","volume":"40","author":"S Malander","year":"2004","journal-title":"Eur J Cancer"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"12629","DOI":"10.1073\/pnas.1007983107","article-title":"Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing","volume":"107","author":"T Walsh","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/nature10166","article-title":"Integrated genomic analyses of ovarian carcinoma","volume":"474","author":"Network The Cancer Genome Atlas Research","year":"2011","journal-title":"Nature"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.molonc.2009.02.001","article-title":"The contribution of BRCA1 and BRCA2 to ovarian cancer","volume":"3","author":"SJ Ramus","year":"2009","journal-title":"Mol Oncol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"3921","DOI":"10.1073\/pnas.1117135109","article-title":"High-grade serous ovarian cancer arises from fallopian tube in a mouse model","volume":"109","author":"J Kim","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/path.2091","article-title":"A candidate precursor to serous carcinoma that originates in the distal fallopian tube","volume":"211","author":"Y Lee","year":"2007","journal-title":"J Pathol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3121\/cmr.2007.702","article-title":"Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer","volume":"5","author":"CP Crum","year":"2007","journal-title":"Clin Med Res"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1097\/PAS.0b013e3181cf3d79","article-title":"The origin and pathogenesis of epithelial ovarian cancer: a proposed unifying theory","volume":"34","author":"RJ Kurman","year":"2010","journal-title":"Am J Surg Pathol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/GCO.0b013e328011a21f","article-title":"The distal fallopian tube: a new model for pelvic serous carcinogenesis","volume":"19","author":"CP Crum","year":"2007","journal-title":"Curr Opin Obstet Gynecol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1097\/01.pas.0000180854.28831.77","article-title":"The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome","volume":"30","author":"F Medeiros","year":"2006","journal-title":"Am J Surg Pathol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"543","DOI":"10.2217\/whe.12.41","article-title":"BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations","volume":"8","author":"A Finch","year":"2012","journal-title":"Womens Health (Lond Engl)"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/nature09339","article-title":"Translating cancer research into targeted therapeutics","volume":"467","author":"JS de Bono","year":"2010","journal-title":"Nature"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1200\/JCO.2008.20.7019","article-title":"Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy","volume":"28","author":"T Byrski","year":"2010","journal-title":"J Clin Oncol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1196\/annals.1414.020","article-title":"The potential of PARP inhibitors in genetic breast and ovarian cancers","volume":"1138","author":"Y Drew","year":"2008","journal-title":"Ann N Y Acad Sci"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.coph.2008.06.016","article-title":"Targeted therapy for cancer using PARP inhibitors","volume":"8","author":"CJ Lord","year":"2008","journal-title":"Curr Opin Pharmacol"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1056\/NEJM199611073351901","article-title":"Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1","volume":"335","author":"SC Rubin","year":"1996","journal-title":"N Engl J Med"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1002\/cncr.11310","article-title":"Improved survival in women with BRCA-associated ovarian carcinoma","volume":"97","author":"I Cass","year":"2003","journal-title":"Cancer"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1136\/jmg.2009.074047","article-title":"The BRCA1 c.5434C\u2013>G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements","volume":"47","author":"P Gaildrat","year":"2010","journal-title":"J Med Genet"}],"updated-by":[{"DOI":"10.1371\/annotation\/159f0ba3-5a24-4de9-99be-1cd6d5037760","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2013,4,17]],"date-time":"2013-04-17T00:00:00Z","timestamp":1366156800000}}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0058182","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T12:48:47Z","timestamp":1540212527000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0058182"}},"subtitle":[],"editor":[{"given":"Paolo","family":"Peterlongo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2013,3,11]]},"references-count":47,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2013,3,11]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0058182","relation":{"correction":[{"id-type":"doi","id":"10.1371\/annotation\/159f0ba3-5a24-4de9-99be-1cd6d5037760","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,11]]}}}