{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T13:53:07Z","timestamp":1720446787800},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2007,1,30]],"date-time":"2007-01-30T00:00:00Z","timestamp":1170115200000},"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":[[2007,12]]},"DOI":"10.1007\/s10549-006-9489-0","type":"journal-article","created":{"date-parts":[[2007,2,2]],"date-time":"2007-02-02T17:43:16Z","timestamp":1170438196000},"page":"255-262","source":"Crossref","is-referenced-by-count":26,"title":["Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast\/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling"],"prefix":"10.1007","volume":"106","author":[{"given":"E.","family":"Beristain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Mart\u00ednez-Bouzas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Guerra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Viguera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Iba\u00f1ez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"D\u00edez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mallabiabarrena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Luj\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Gorostiaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"De Pablo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Mendizabal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. I.","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,1,30]]},"reference":[{"issue":"8","key":"9489_CR1","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1586\/14737140.6.8.1205","volume":"6","author":"JI Goldberg","year":"2006","unstructured":"Goldberg JI, Borgen JI (2006) Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 6(8):1205\u20131214","journal-title":"Expert Rev Anticancer Ther"},{"key":"9489_CR2","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66\u201371","journal-title":"Science"},{"key":"9489_CR3","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","volume":"378","author":"R Wooster","year":"1995","unstructured":"Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789\u2013792","journal-title":"Nature"},{"key":"9489_CR4","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1086\/424388","volume":"75","author":"DE Goldgar","year":"2004","unstructured":"Goldgar DE, Easton DF, Deffenbaugh AM et al (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75:535\u2013544","journal-title":"Am J Hum Genet"},{"issue":"2","key":"9489_CR5","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1158\/0008-5472.417.65.2","volume":"65","author":"K Wu","year":"2005","unstructured":"Wu K, Hinson SR, Ohashi A et al (2005) Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65(2):417\u2013426","journal-title":"Cancer Res"},{"key":"9489_CR6","first-page":"1013","volume":"60","author":"CI Szabo","year":"1997","unstructured":"Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013\u20131020","journal-title":"Am J Hum Genet"},{"key":"9489_CR7","unstructured":"Martinez-Bouzas C, Beristain E, Guerra I et al (2006) CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat. DOI 10.1007\/s10549-0069351-4"},{"issue":"3","key":"9489_CR8","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16(3):1215","journal-title":"Nucleic Acids Res"},{"key":"9489_CR9","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/humu.9126","volume":"21","author":"M Duran","year":"2003","unstructured":"Duran M, Esteban-Cardenosa E, Velasco E et al (2003) Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Le\u00f3n: identification of four novel truncating mutations. Hum Mutat 21:448","journal-title":"Hum Mutat"},{"key":"9489_CR10","doi-asserted-by":"crossref","first-page":"10325","DOI":"10.1073\/pnas.90.21.10325","volume":"90","author":"A Ganguly","year":"1993","unstructured":"Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci 90:10325\u201310329","journal-title":"Proc Natl Acad Sci"},{"issue":"3","key":"9489_CR11","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R","volume":"97","author":"F Tasonne","year":"2000","unstructured":"Tasonne F, Hagerman RJ, Chamberlain WD et al (2000) Transcription of the FMRN1 gene in individuals with fragile X syndrome. Am J Med Genet 97(3):195\u2013203","journal-title":"Am J Med Genet"},{"key":"9489_CR12","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s10038-006-0404-7","volume":"51","author":"M Infante","year":"2006","unstructured":"Infante M, Dur\u00e1n M, Esteban-Carde\u00f1osa E et al (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast cancer patients from Castilla-Le\u00f3n (central Spain). J Hum Genet 51:611\u2013617","journal-title":"J Hum Genet"},{"key":"9489_CR13","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/humu.10260","volume":"22","author":"O Diez","year":"2003","unstructured":"Diez O, Osorio A, Dur\u00e1n M et al (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"},{"issue":"1","key":"9489_CR14","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s10549-006-9225-9","volume":"100","author":"G Giannini","year":"2006","unstructured":"Giannini G, Capalbo C, Ristori E et al (2006) Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and\/or ovarian cancer families. Breast Cancer Res Treat 100(1):83\u201391","journal-title":"Breast Cancer Res Treat"},{"key":"9489_CR15","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.canlet.2005.03.006","volume":"233","author":"R Salazar","year":"2006","unstructured":"Salazar R, Cruz-Hern\u00e1ndez JJ, Sanchez-Valdivieso E et al (2006) BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. Cancer Lett 233:172\u2013177","journal-title":"Cancer Lett"},{"key":"9489_CR16","doi-asserted-by":"crossref","unstructured":"de la Hoya M, Osorio A, Godino J et al (2002) Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast\/ovarian cancer families: implications for genetic testing. Int J Cancer 97:466\u2013471","DOI":"10.1002\/ijc.1627"},{"issue":"4","key":"9489_CR17","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.9133","volume":"21","author":"B Campos","year":"2003","unstructured":"Campos B, Diez O, Odefrey F et al (2003) Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast\/ovarian cancer families from Spain. Hum Mutat 21(4):452\u2013457","journal-title":"Hum Mutat"},{"issue":"4","key":"9489_CR18","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/humu.9176","volume":"22","author":"B Campos","year":"2003","unstructured":"Campos B, Diez O, Dom\u00e8nech M et al (2003) RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast\/ovarian cancer families from Spain. Hum Mutat 22(4):337","journal-title":"Hum Mutat"},{"issue":"10","key":"9489_CR19","doi-asserted-by":"crossref","first-page":"5646","DOI":"10.1073\/pnas.0836054100","volume":"100","author":"PS Brzovic","year":"2003","unstructured":"Brzovic PS, Keeffe JR, Nishikawa H et al (2003) Binding and recognition in the assembly of an active BRCA1\/BARD1 ubiquitin\u2013ligase complex. PNAS 100(10):5646\u20135651","journal-title":"PNAS"},{"key":"9489_CR20","doi-asserted-by":"crossref","unstructured":"Osorio A, de la Hoya M, Rodriguez-Lopez R et al (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305\u2013309","DOI":"10.1002\/ijc.10337"},{"key":"9489_CR21","doi-asserted-by":"crossref","first-page":"3790","DOI":"10.1158\/0008-5472.CAN-03-3009","volume":"64","author":"N Mirkovic","year":"2004","unstructured":"Mirkovic N, Marti-Renom MA, Weber BL et al (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64:3790\u20133797","journal-title":"Cancer Res"},{"key":"9489_CR22","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/sj.onc.1206071","volume":"22","author":"JMS Wong","year":"2003","unstructured":"Wong JMS, Ionescu D, Ingles CJ (2003) Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2. Oncogene 22:28\u201333","journal-title":"Oncogene"},{"key":"9489_CR23","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/ng1196-253","volume":"14","author":"S Mazoyer","year":"1996","unstructured":"Mazoyer S, Dunning AM, Serova O et al (1996) A polymorphic stop codon in BRCA2. Nat Genet 14:253\u2013254","journal-title":"Nat Genet"},{"key":"9489_CR24","doi-asserted-by":"crossref","first-page":"3652","DOI":"10.1038\/sj.onc.1208411","volume":"24","author":"ST Martin","year":"2005","unstructured":"Martin ST, Matsubayashi H, Rogers CD et al (2005) Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24:3652\u20133656","journal-title":"Oncogene"},{"issue":"13","key":"9489_CR25","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/nar\/gkg616","volume":"31","author":"L Cartegni","year":"2003","unstructured":"Cartegni L, Wang J, Zhu Z et al (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568\u20133571","journal-title":"Nucleic Acids Res"},{"key":"9489_CR26","unstructured":"Baumbach L, Gayol L, Monteiro A et al (2004) BRCA1\/BRCA2 missense mutations in African-American breast cancer patients. Paper presented at the 2004 miami nature biotechnology winter symposium, the Cell Cycle, chromosomes and cancer, University of Miami, Miami, Florida, USA, 31 Jan\u20134 Feb 2004"},{"key":"9489_CR27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/345310","volume":"72","author":"SM Edwards","year":"2003","unstructured":"Edwards SM, Kote-jarai Z, Meitz J et al (2003) Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72:1\u201312","journal-title":"Am J Hum Genet"},{"issue":"3","key":"9489_CR28","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/gcc.10221","volume":"37","author":"K Claes","year":"2003","unstructured":"Claes K, Poppe B, Machackova E et al (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37(3):314\u2013320","journal-title":"Genes Chromosomes Cancer"},{"issue":"3","key":"9489_CR29","first-page":"405","volume":"41","author":"NA Grudinina","year":"2005","unstructured":"Grudinina NA, Golubkov VI, Tikhomirova OS et al (2005) Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg. Genetika 41(3):405\u2013410","journal-title":"Genetika"}],"container-title":["Breast Cancer Research and Treatment"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-006-9489-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10549-006-9489-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-006-9489-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T15:01:13Z","timestamp":1683730873000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10549-006-9489-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,30]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["9489"],"URL":"https:\/\/doi.org\/10.1007\/s10549-006-9489-0","relation":{},"ISSN":["0167-6806","1573-7217"],"issn-type":[{"value":"0167-6806","type":"print"},{"value":"1573-7217","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,30]]}}}