{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T05:15:58Z","timestamp":1777526158625,"version":"3.51.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,3,25]],"date-time":"2008-03-25T00:00:00Z","timestamp":1206403200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res Treat"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1007\/s10549-008-9978-4","type":"journal-article","created":{"date-parts":[[2008,3,24]],"date-time":"2008-03-24T11:11:26Z","timestamp":1206357086000},"page":"31-38","source":"Crossref","is-referenced-by-count":51,"title":["The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern\/central Portugal"],"prefix":"10.1007","volume":"114","author":[{"given":"Ana","family":"Peixoto","sequence":"first","affiliation":[]},{"given":"Catarina","family":"Santos","sequence":"additional","affiliation":[]},{"given":"Patr\u00edcia","family":"Rocha","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Pinheiro","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Pr\u00edncipe","sequence":"additional","affiliation":[]},{"given":"Deolinda","family":"Pereira","sequence":"additional","affiliation":[]},{"given":"Helena","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Fernando","family":"Castro","sequence":"additional","affiliation":[]},{"given":"Joaquim","family":"Abreu","sequence":"additional","affiliation":[]},{"given":"Leonor","family":"Gusm\u00e3o","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Amorim","sequence":"additional","affiliation":[]},{"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2008,3,25]]},"reference":[{"key":"9978_CR1","first-page":"189","volume":"57","author":"P Tonin","year":"1995","unstructured":"Tonin P, Serova O, Lenoir G et\u00a0al (1995) BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57:189","journal-title":"Am J Hum Genet"},{"key":"9978_CR2","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1136\/jmg.33.10.814","volume":"33","author":"F Durocher","year":"1996","unstructured":"Durocher F, Tonin P, Shattuck-Eidens D et\u00a0al (1996) Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. J Med Genet 33:814\u2013819","journal-title":"J Med Genet"},{"key":"9978_CR3","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1086\/302099","volume":"63","author":"PN Tonin","year":"1998","unstructured":"Tonin PN, Mes-Masson AM, Futreal PA et\u00a0al (1998) Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 63:1341\u20131351","journal-title":"Am J Hum Genet"},{"key":"9978_CR4","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0959-8049(99)00050-7","volume":"35","author":"A D\u00f8rum","year":"1999","unstructured":"D\u00f8rum A, Hovig E, Trop\u00e9 C et\u00a0al (1999) Three per cent of Norwegian ovarian cancers are caused by BRCA1 1675delA or1135insA. Eur J Cancer 35:779\u2013781","journal-title":"Eur J Cancer"},{"key":"9978_CR5","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000472203","volume":"4","author":"T Peelen","year":"1996","unstructured":"Peelen T, Cornelis RS, van Vliet M et\u00a0al (1996) The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1or BRCA2. Eur J Hum Genet 4:225\u2013230","journal-title":"Eur J Hum Genet"},{"key":"9978_CR6","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/ng1197-341","volume":"17","author":"A Petrij-Bosch","year":"1997","unstructured":"Petrij-Bosch A, Peelen T, van Vliet M et\u00a0al (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341\u2013345","journal-title":"Nat Genet"},{"key":"9978_CR7","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1002\/ijc.20162","volume":"110","author":"B G\u00f3rski","year":"2004","unstructured":"G\u00f3rski B, Jakubowska A, Huzarski T et\u00a0al (2004) A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 110:683\u2013686","journal-title":"Int J Cancer"},{"key":"9978_CR8","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s10549-007-9571-2","volume":"107","author":"I Konstantopoulou","year":"2008","unstructured":"Konstantopoulou I, Rampias T, Ladopoulou A et\u00a0al (2008) Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast\/ovarian cancer patients. Breast Cancer Res Treat 107:431\u2013441","journal-title":"Breast Cancer Res Treat"},{"key":"9978_CR9","doi-asserted-by":"crossref","unstructured":"Anagnostopoulos T, Pertesi M, Konstantopoulou I et\u00a0al (2007) G1738R is a BRCA1 founder mutation in Greek breast\/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history. Breast Cancer Res Treat. doi: 10.1007\/s10549-007-9729-y","DOI":"10.1007\/s10549-007-9729-y"},{"key":"9978_CR10","doi-asserted-by":"crossref","first-page":"2788","DOI":"10.1016\/j.ejca.2004.09.008","volume":"40","author":"T Rafnar","year":"2004","unstructured":"Rafnar T, Benediktsdottir KR, Eldon BJ et\u00a0al (2004) BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. Eur J Cancer 40:2788\u20132793","journal-title":"Eur J Cancer"},{"key":"9978_CR11","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.9133","volume":"21","author":"B Campos","year":"2003","unstructured":"Campos B, D\u00edez O, Odefrey F et\u00a0al (2003) Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast\/ovarian cancer families from Spain. Hum Mutat 21:452","journal-title":"Hum Mutat"},{"key":"9978_CR12","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/humu.10260","volume":"22","author":"O D\u00edez","year":"2003","unstructured":"D\u00edez O, Osorio A, Dur\u00e1n M et\u00a0al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast\/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301\u2013312","journal-title":"Hum Mutat"},{"key":"9978_CR13","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/sj.ejhg.5200704","volume":"9","author":"A Bergman","year":"2001","unstructured":"Bergman A, Einbeigi Z, Olofsson U et\u00a0al (2001) The western Swedish BRCA1 founder mutation 3171ins5; a 3.7\u00a0cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Eur J Hum Genet 9:787\u2013793","journal-title":"Eur J Hum Genet"},{"key":"9978_CR14","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/s10689-006-0009-5","volume":"5","author":"A Peixoto","year":"2006","unstructured":"Peixoto A, Salgueiro N, Santos C et\u00a0al (2006) BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast\/ovarian cancer families. Fam Cancer 5:379\u2013387","journal-title":"Fam Cancer"},{"key":"9978_CR15","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/humu.9366","volume":"26","author":"E Teugels","year":"2005","unstructured":"Teugels E, De Brakeleer S, Goelen G et\u00a0al (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 26:284","journal-title":"Hum Mutat"},{"key":"9978_CR16","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1200\/JCO.2006.06.9443","volume":"25","author":"PM Machado","year":"2007","unstructured":"Machado PM, Brand\u00e3o RD, Cavaco BM et\u00a0al (2007) Screening for a BRCA2 rearrangement in high-risk breast\/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027\u20132034","journal-title":"J Clin Oncol"},{"key":"9978_CR17","doi-asserted-by":"crossref","first-page":"5035","DOI":"10.1200\/JCO.2007.13.4346","volume":"25","author":"O D\u00edez","year":"2007","unstructured":"D\u00edez O, Guti\u00e9rrez-Enr\u00edquez S, Ram\u00f3n y Cajal T et\u00a0al (2007) Caution should be used when interpreting alterations affecting the exon 3 of the BRCA2 gene in breast\/ovarian cancer families. J Clin Oncol 25:5035\u20135036","journal-title":"J Clin Oncol"},{"key":"9978_CR18","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1086\/301670","volume":"62","author":"G Parmigiani","year":"1998","unstructured":"Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145\u2013158","journal-title":"Am J Hum Genet"},{"key":"9978_CR19","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/humu.20340","volume":"27","author":"AH Hout van der","year":"2006","unstructured":"van der Hout AH, van den Ouweland AM, van der Luijt RB et\u00a0al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27:654\u2013666","journal-title":"Hum Mutat"},{"key":"9978_CR20","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1038\/sj.bjc.6601656","volume":"90","author":"K Claes","year":"2004","unstructured":"Claes K, Poppe B, Coene I et\u00a0al (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast\/ovarian cancer families. Br J Cancer 90:1244\u20131251","journal-title":"Br J Cancer"},{"key":"9978_CR21","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/humu.9139","volume":"21","author":"M Perkowska","year":"2003","unstructured":"Perkowska M, BroZek I, Wysocka B et\u00a0al (2003) BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland. Hum Mutat 21:553\u2013554","journal-title":"Hum Mutat"},{"key":"9978_CR22","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1200\/JCO.2002.20.4.994","volume":"20","author":"HA Shih","year":"2002","unstructured":"Shih HA, Couch FJ, Nathanson KL et\u00a0al (2002) BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol 20:994\u2013999","journal-title":"J Clin Oncol"},{"key":"9978_CR23","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.mrfmmm.2004.07.024","volume":"573","author":"T Judkins","year":"2005","unstructured":"Judkins T, Hendrickson BC, Deffenbaugh AM et\u00a0al (2005) Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Mutat Res 573:168\u2013179","journal-title":"Mutat Res"},{"key":"9978_CR24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1023\/A:1004099605261","volume":"108","author":"DJ Rowold","year":"2000","unstructured":"Rowold DJ, Herrera RJ (2000) Alu elements and the human genome. Genetica 108:57\u201372","journal-title":"Genetica"},{"key":"9978_CR25","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1471-2350-7-23","volume":"7","author":"KK Oros","year":"2006","unstructured":"Oros KK, Leblanc G, Arcand SL et\u00a0al (2006) Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and\/ovarian cancer families. BMC Med Genet 7:23","journal-title":"BMC Med Genet"}],"container-title":["Breast Cancer Research and Treatment"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-008-9978-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10549-008-9978-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-008-9978-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T12:32:14Z","timestamp":1559219534000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10549-008-9978-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3,25]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["9978"],"URL":"https:\/\/doi.org\/10.1007\/s10549-008-9978-4","relation":{},"ISSN":["0167-6806","1573-7217"],"issn-type":[{"value":"0167-6806","type":"print"},{"value":"1573-7217","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3,25]]}}}