{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T22:50:23Z","timestamp":1761519023146},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,9,15]],"date-time":"2011-09-15T00:00:00Z","timestamp":1316044800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2012,3]]},"DOI":"10.1007\/s10689-011-9481-7","type":"journal-article","created":{"date-parts":[[2011,9,14]],"date-time":"2011-09-14T08:00:19Z","timestamp":1315987219000},"page":"49-56","source":"Crossref","is-referenced-by-count":7,"title":["Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population"],"prefix":"10.1007","volume":"11","author":[{"given":"Inmaculada","family":"de Juan Jim\u00e9nez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Esteban Carde\u00f1osa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarai","family":"Palanca Suela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Barrag\u00e1n Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ismael","family":"Aznar Carretero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blanca","family":"Mun\u00e1rriz Gand\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Santaballa Bertran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Dolores","family":"Torregrosa Maicas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Guill\u00e9n Ponce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Beatriz","family":"S\u00e1nchez Heras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Bay\u00f3n Lara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar","family":"Fuster Lluch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascual","family":"Bolufer Gilabert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,9,15]]},"reference":[{"key":"9481_CR1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1093\/annonc\/mdi098","volume":"16","author":"P Boyley","year":"2004","unstructured":"Boyley P, Ferlay J (2004) Cancer incidence and mortality in Europe. Ann Oncol 16:481\u2013488","journal-title":"Ann Oncol"},{"key":"9481_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":"9481_CR3","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","volume":"78","author":"R Wooster","year":"1995","unstructured":"Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 78:789\u2013792","journal-title":"Nature"},{"key":"9481_CR4","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1086\/301749","volume":"62","author":"D Ford","year":"1998","unstructured":"Ford D, Easton DF, Stratton MR et al (1998) The breast cancer linkage consortium: genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676\u2013689","journal-title":"Am J Hum Genet"},{"key":"9481_CR5","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/ng1107","volume":"33","author":"A Balmain","year":"2003","unstructured":"Balmain A, Gray J, Ponder B (2003) The genetics and genomics of cancer. Nat Genet 33:238\u2013244","journal-title":"Nat Genet"},{"key":"9481_CR6","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1200\/JCO.1998.16.1.115","volume":"16","author":"E Garcia-Pati\u00f1o","year":"1998","unstructured":"Garcia-Pati\u00f1o E, Gomendio B, Provencio M, Silva JM et al (1998) Germ-line BRCAl mutations in women with sporadic breast cancer: clinical correlations. J Clin Oncol 16:115\u2013120","journal-title":"J Clin Oncol"},{"key":"9481_CR7","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1002\/humu.9275","volume":"24","author":"JH Seo","year":"2004","unstructured":"Seo JH, Cho DY, Ahn SH et al (2004) BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. Hum Mutat 24:350","journal-title":"Hum Mutat"},{"key":"9481_CR8","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1111\/j.1399-0004.2006.00717.x","volume":"70","author":"SH Han","year":"2006","unstructured":"Han SH, Lee KR, Lee DG et al (2006) Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. Clin Genet 70:496\u2013501","journal-title":"Clin Genet"},{"key":"9481_CR9","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1002\/(SICI)1097-0142(19991201)86:11+<2575::AID-CNCR15>3.0.CO;2-F","volume":"86","author":"SL Neuhausen","year":"1999","unstructured":"Neuhausen SL (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:2575\u20132582","journal-title":"Cancer"},{"key":"9481_CR10","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.9188","volume":"22","author":"JI Mart\u00ednez-Ferrandis","year":"2003","unstructured":"Mart\u00ednez-Ferrandis JI, Vega A, Chirivella I et al (2003) Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. Hum Mutat 22:417\u2013418","journal-title":"Hum Mutat"},{"key":"9481_CR11","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/humu.10260","volume":"22","author":"O Diez","year":"2003","unstructured":"Diez O, Osorio A, Duran 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"},{"key":"9481_CR12","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s10549-009-0680-y","volume":"121","author":"E Esteban","year":"2010","unstructured":"Esteban E, Bolufer P, de Juan I et al (2010) Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population. Breast Cancer Res Treat 121:257\u2013260","journal-title":"Breast Cancer Res Treat"},{"key":"9481_CR13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10549-007-9818-y","volume":"112","author":"E Esteban","year":"2008","unstructured":"Esteban E, Bolufer P, Palanca S et al (2008) Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and\/or ovarian cancer families of Eastern Spain. Breast Cancer Res Treat 112:69\u201373","journal-title":"Breast Cancer Res Treat"},{"key":"9481_CR14","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, Miner C, Velasco E (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast\/ovarian cancer patients from Castilla-Le\u00f3n (central Spain). J Hum Genet 51:611\u2013617","journal-title":"J Hum Genet"},{"key":"9481_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-Hernandez JJ, Sanchez-Valdivieso E et al (2006) BRCA1\u20132 mutations in breast cancer: identification of nine new variants of BRCA1\u20132 genes in a population from central Western Spain. Cancer Lett 233:172\u2013177","journal-title":"Cancer Lett"},{"key":"9481_CR16","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1157\/13070435","volume":"124","author":"P Bolufer","year":"2005","unstructured":"Bolufer P, Mun\u00e1rriz B, Santaballa A et al (2005) Mutaciones en BRCA1 y BRCA2 en pacientes con historia familiar de c\u00e1ncer de mama. Med Clin (Barc) 124:10\u201312","journal-title":"Med Clin (Barc)"},{"key":"9481_CR17","unstructured":"World Medical Association Declaration of Helsinki. Ethical principles for medical research involving human subjects (ver.2004): [ http:\/\/www.wma.net\/e\/policy\/pdf\/17c.pdf ]"},{"key":"9481_CR18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s10549-008-0073-7","volume":"115","author":"I Juan de","year":"2009","unstructured":"de Juan I, Esteban E, Palanca S, Barrag\u00e1n E, Bolufer P (2009) High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res Treat 115:405\u2013414","journal-title":"Breast Cancer Res Treat"},{"key":"9481_CR19","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.cca.2010.12.007","volume":"412","author":"I Juan de","year":"2011","unstructured":"de Juan I, Esteban E, Palanca S et al (2011) Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes. Clin Chim Acta 412:578\u2013582","journal-title":"Clin Chim Acta"},{"key":"9481_CR20","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1373\/clinchem.2003.023614","volume":"50","author":"E Esteban-Carde\u00f1osa","year":"2004","unstructured":"Esteban-Carde\u00f1osa E, Dur\u00e1n M, Infante M, Velasco E, Miner C (2004) A high-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis. Clin Chem 50:313\u2013320","journal-title":"Clin Chem"},{"key":"9481_CR21","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT Dunnen den","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7\u201312","journal-title":"Hum Mutat"},{"key":"9481_CR22","unstructured":"Berkeley Drosophila Genome Project: [ http:\/\/www.fruitfly.org\/seq_tools\/splice.html ]"},{"key":"9481_CR23","unstructured":"ESEfinder: [ http:\/\/rulai.cshl.edu\/cgi-bin\/tools\/ESE3\/esefinder.cgi?process=home] ]"},{"key":"9481_CR24","unstructured":"ESRsearch: [ http:\/\/esrsearch.tau.ac.il\/ ]"},{"key":"9481_CR25","unstructured":"RESCUE-ESE: [ http:\/\/genes.mit.edu\/burgela\/rescue-ese\/ ]"},{"key":"9481_CR26","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1136\/jmg.2004.024711","volume":"42","author":"CM Phelan","year":"2005","unstructured":"Phelan CM, Dapic V, Tice B et al (2005) Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 42:138\u2013146","journal-title":"J Med Genet"},{"key":"9481_CR27","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1001\/jama.279.12.922","volume":"279","author":"KE Malone","year":"1998","unstructured":"Malone KE, Daling JR, Thompson JD et al (1998) BRCA1 mutations and breast cancer in the general population: analyses in women before age 35\u00a0years and in women before age 45\u00a0years with first-degree family history. JAMA 279:922","journal-title":"JAMA"},{"key":"9481_CR28","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/ijc.1627","volume":"97","author":"M la Hoya De","year":"2002","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","journal-title":"Int J Cancer"},{"key":"9481_CR29","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1001\/jama.279.12.915","volume":"279","author":"B Newman","year":"1998","unstructured":"Newman B, Mu H, Butler LM et al (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279:915\u2013921","journal-title":"JAMA"},{"key":"9481_CR30","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":"9481_CR31","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1146\/annurev.pathol.3.121806.151422","volume":"4","author":"AR Venkitaraman","year":"2009","unstructured":"Venkitaraman AR (2009) Linking the cellular functions of BRCA genes to cancer pathogenesis and treatment. Annu Rev Pathol Mech Dis 4:461\u2013487","journal-title":"Annu Rev Pathol Mech Dis"},{"key":"9481_CR32","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1159\/000123846","volume":"75","author":"J Palacios","year":"2008","unstructured":"Palacios J, Robles-Fr\u00edas MJ, Castilla MA, L\u00f3pez-Garc\u00eda MA, Ben\u00edtez J (2008) The molecular pathology of hereditary breast cancer. Pathobiology 75:85\u201394","journal-title":"Pathobiology"},{"key":"9481_CR33","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ctrv.2009.12.002","volume":"36","author":"A Bosch","year":"2010","unstructured":"Bosch A, Eroles P, Zaragoza R, Vi\u00f1a JR, Lluch A (2010) Triple-negative breast cancer: molecular features, pathogenesis, treatment and current lines of research. Cancer Treat Rev 36:206\u2013215","journal-title":"Cancer Treat Rev"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-011-9481-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-011-9481-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-011-9481-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,15]],"date-time":"2019-06-15T09:55:54Z","timestamp":1560592554000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-011-9481-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,15]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["9481"],"URL":"https:\/\/doi.org\/10.1007\/s10689-011-9481-7","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,15]]}}}