{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T12:18:08Z","timestamp":1784290688810,"version":"3.55.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003980","name":"Istituto Toscano Tumori","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003980","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gynecologiconcology-online.net","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gynecologic Oncology"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.ygyno.2012.03.007","type":"journal-article","created":{"date-parts":[[2012,3,13]],"date-time":"2012-03-13T02:46:40Z","timestamp":1331606800000},"page":"687-692","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":47,"title":["BRCA1 and BRCA2 germline mutations in Moroccan breast\/ovarian cancer families: Novel mutations and unclassified variants"],"prefix":"10.1016","volume":"125","author":[{"given":"Amal","family":"Tazzite","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Jouhadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sellama","family":"Nadifi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Aretini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Falaschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Collavoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdellatif","family":"Benider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Adelaide","family":"Caligo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ygyno.2012.03.007_bb0005","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1111\/j.1349-7006.2004.tb02195.x","article-title":"Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage","volume":"95","author":"Yoshida","year":"2004","journal-title":"Cancer Sci"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0010","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","article-title":"A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1","volume":"266","author":"Miki","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0015","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","article-title":"Identification of the breast cancer gene BRCA2","volume":"378","author":"Wooster","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0020","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0396-333","article-title":"The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds","volume":"12","author":"Tavtigian","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0025","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1200\/JCO.2006.09.1066","article-title":"Meta-analysis of BRCA1 and BRCA2 Penetrance","volume":"25","author":"Chen","year":"2007","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0030","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/annonc\/mdm234","article-title":"Founder mutations in BRCA1 and BRCA2 genes","volume":"18","author":"Ferla","year":"2007","journal-title":"Ann Oncol"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0035","doi-asserted-by":"crossref","first-page":"2893","DOI":"10.1002\/ijc.25516","article-title":"Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008","volume":"127","author":"Ferlay","year":"2010","journal-title":"Int J Cancer"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0040","series-title":"Registre des cancers de la r\u00e9gion du Grand Casablanca, Ann\u00e9e 2004","author":"Benider","year":"2007"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0045","series-title":"Registre des Cancers de Rabat. Incidence des Cancers \u00e0 Rabat, Ann\u00e9e 2005","author":"Tazi","year":"2009"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0050","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s12558-010-0075-3","article-title":"Registre du cancer de S\u00e9tif (Alg\u00e9rie): incidence, tendance et survie, 1986\u20132005","volume":"2","author":"Hamdi Cherif","year":"2010","journal-title":"J Afr Cancer"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0055","first-page":"417","article-title":"Cancer du sein en Tunisie: caract\u00e9ristiques \u00e9pid\u00e9miologiques et tendance \u00e9volutive de l'incidence","volume":"87","author":"Ben Abdallah","year":"2009","journal-title":"Tunis Med"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0060","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1093\/annonc\/mdq334","article-title":"Cancer profile in eastern Libya: incidence and mortality in the year 2004","volume":"21","author":"El Mistiri","year":"2010","journal-title":"Ann Oncol"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0065","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1503\/cmaj.080760","article-title":"Cancer in Canada in 2008","volume":"179","author":"Marrett","year":"2008","journal-title":"CMAJ"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0070","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1016\/S0959-8049(03)00118-7","article-title":"Breast cancer incidence and mortality trends in 16 European countries","volume":"39","author":"Botha","year":"2003","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0075","first-page":"69","article-title":"Global cancer statistics","volume":"61","author":"Jemal","year":"2011","journal-title":"CA Cancer J Clin"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0080","series-title":"The history and geography of human genes","author":"Cavalli-Sforza","year":"1994"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0085","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0090","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0095","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral","volume":"43","author":"Tavtigian","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0100","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4","article-title":"UMD (universal mutation database): a generic software to build and analyze locus-specific databases","volume":"15","author":"B\u00e9roud","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0105","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/humu.20210","article-title":"UMD (universal mutation database): 2005 update","volume":"26","author":"B\u00e9roud","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0110","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0115","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1007\/s10038-007-0195-5","article-title":"Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia","volume":"52","author":"Troudi","year":"2007","journal-title":"J Hum Genet"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0120","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1155\/2010\/585278","article-title":"BRCA1 and BRCA2 germline mutations screening in Algerian breast\/ovarian cancer families","volume":"28","author":"Cherbal","year":"2010","journal-title":"Dis Markers"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0125","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/nrc2054","article-title":"Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations","volume":"7","author":"Fackenthal","year":"2007","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0150","doi-asserted-by":"crossref","first-page":"197","DOI":"10.7150\/ijms.5.197","article-title":"BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases","volume":"5","author":"Uhrhammer","year":"2008","journal-title":"Int J Med Sci"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0155","article-title":"Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population","author":"Mahfoudh","year":"2011","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0160","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1001\/jama.298.24.2869","article-title":"Prevalence of pathogenic BRCA1 mutation carriers in 5 U.S. racial\/ethnic groups","volume":"298","author":"John","year":"2007","journal-title":"JAMA"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0165","first-page":"89","article-title":"Ten years of BRCA testing in calabrian population","volume":"20","author":"Baudi","year":"2009","journal-title":"Ann Oncol"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0170","doi-asserted-by":"crossref","first-page":"7795","DOI":"10.1074\/jbc.273.14.7795","article-title":"The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain","volume":"273","author":"Brzovic","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0175","doi-asserted-by":"crossref","first-page":"41399","DOI":"10.1074\/jbc.M106551200","article-title":"BRCA1 Ring domain cancer-predisposing mutations. Structural consequences and effects on protein\u2013protein interactions","volume":"44","author":"Brzovic","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0180","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s13167-010-0037-y","article-title":"Founder BRCA1\/2 mutations in the Europe: implications for hereditary breast\u2013ovarian cancer prevention and control","volume":"1","author":"Janavi\u010dius","year":"2010","journal-title":"EPMA J"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0185","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1093\/hmg\/10.4.353","article-title":"Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families","volume":"10","author":"Vallon-Christersson","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0190","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1086\/521032","article-title":"A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes","volume":"81","author":"Easton","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0195","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1200\/JCO.2007.13.2118","article-title":"BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy","volume":"26","author":"Malacrida","year":"2008","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0200","doi-asserted-by":"crossref","first-page":"7030","DOI":"10.1158\/0008-5472.CAN-09-1440","article-title":"Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del","volume":"69","author":"De Nicolo","year":"2009","journal-title":"Cancer Res"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0205","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.dnarep.2004.03.008","article-title":"DNA recombination, chromosomal stability and carcinogenesis: insights into the role of BRCA2","volume":"3","author":"Shivji","year":"2004","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.ygyno.2012.03.007_bb0210","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1086\/303076","article-title":"Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by confirmation-sensitive gel electrophoresis or sequencing","volume":"67","author":"Unger","year":"2000","journal-title":"Am J Hum Genet"}],"container-title":["Gynecologic Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090825812001783?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090825812001783?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T03:29:48Z","timestamp":1758770988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0090825812001783"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0090825812001783"],"URL":"https:\/\/doi.org\/10.1016\/j.ygyno.2012.03.007","relation":{},"ISSN":["0090-8258"],"issn-type":[{"value":"0090-8258","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"BRCA1 and BRCA2 germline mutations in Moroccan breast\/ovarian cancer families: Novel mutations and unclassified variants","name":"articletitle","label":"Article Title"},{"value":"Gynecologic Oncology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygyno.2012.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}