{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T07:31:30Z","timestamp":1764401490561},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2008,2,20]],"date-time":"2008-02-20T00:00:00Z","timestamp":1203465600000},"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":[[2008,9]]},"DOI":"10.1007\/s10689-008-9187-7","type":"journal-article","created":{"date-parts":[[2008,2,19]],"date-time":"2008-02-19T15:59:07Z","timestamp":1203436747000},"page":"275-279","source":"Crossref","is-referenced-by-count":27,"title":["Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba"],"prefix":"10.1007","volume":"7","author":[{"given":"Rolando Comacho","family":"Rodriguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Alejandro","family":"Esperon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon","family":"Ropero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Caridad","family":"Rubio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa M.","family":"Ortiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan J. Lence","family":"Anta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"de los Rios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deyanira","family":"Carnesolta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria C.","family":"del Olivera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somalia Stiu","family":"Vansam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Royer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad R.","family":"Akbari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talia","family":"Donenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Narod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,2,20]]},"reference":[{"key":"9187_CR1","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/S0140-6736(94)91578-4","volume":"343","author":"D Ford","year":"1994","unstructured":"Ford D, Easton DF, Bishop DT et al (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692\u2013695","journal-title":"Lancet"},{"key":"9187_CR2","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1200\/JCO.2006.09.1066","volume":"25","author":"S Chen","year":"2007","unstructured":"Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329\u20131333","journal-title":"J Clin Oncol"},{"key":"9187_CR3","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/375033","volume":"72","author":"A Antoniou","year":"2003","unstructured":"Antoniou A, Pharoah PD, Narod S et al (2003) 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. Am J Hum Genet 72:1117\u20131130","journal-title":"Am J Hum Genet"},{"key":"9187_CR4","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1086\/318181","volume":"68","author":"D Thompson","year":"2001","unstructured":"Thompson D, Easton D, Breast Cancer Linkage Consortium (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68:410\u2013419","journal-title":"Am J Hum Genet"},{"key":"9187_CR5","first-page":"329","volume":"11","author":"D Thompson","year":"2002","unstructured":"Thompson D, Easton D, Breast Cancer Linkage Consortium (2002) Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 11:329\u2013336","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"9187_CR6","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1126\/science.1088759","volume":"302","author":"M-C King","year":"2003","unstructured":"King M-C, Marks JH, Mandell JB, New York Breast Cancer Study Group (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643\u2013646","journal-title":"Science"},{"key":"9187_CR7","first-page":"957","volume":"57","author":"S Narod","year":"1997","unstructured":"Narod S, Ford D, Devilee P, Barkardottir RB, Eyfjord J, Lenoir G, Serova O, Easton D, Goldgar D, Breast Cancer Linkage Consortium (1997) Genetic heterogeneity of breast-ovarian cancer revisited. Am J Hum Genet 57:957\u2013958","journal-title":"Am J Hum Genet"},{"key":"9187_CR8","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/nrc1431","volume":"4","author":"S Narod","year":"2004","unstructured":"Narod S, Foulkes W (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665\u2013676","journal-title":"Nat Rev Cancer"},{"key":"9187_CR9","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1034\/j.1399-0004.2000.570307.x","volume":"57","author":"G Kuperstein","year":"2000","unstructured":"Kuperstein G, Foulkes WD, Ghadirian P, Hakimi J, Narod SA (2000) A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 57:213\u2013220","journal-title":"Clin Genet"},{"key":"9187_CR10","doi-asserted-by":"crossref","unstructured":"BRCA1 Exon 13 Duplication Screening Group (2000) The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 67:207\u2013212","DOI":"10.1086\/302974"},{"key":"9187_CR11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1089\/gte.2006.10.1","volume":"10","author":"G Kuperstein","year":"2006","unstructured":"Kuperstein G, Jack E, Risch H, McLaughlin J, Narod SA (2006) A fluorescent multiplexed-DGGE (FMD) screening test for the BRCA1 gene. Genet Test 10:1\u20137","journal-title":"Genet Test"},{"key":"9187_CR12","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1126\/science.297.5588.1837","volume":"297","author":"H Yang","year":"2002","unstructured":"Yang H, Jeffrey PD, Miller J et al (2002) BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 297:1837\u20131848","journal-title":"Science"},{"key":"9187_CR13","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/hmg\/ddg266","volume":"12","author":"S Hussain","year":"2003","unstructured":"Hussain S, Witt E, Huber PA, Medhurst AL, Ashworth A, Mathew CG (2003) Direct interaction of the Fanconi anaemia protein FANCG with BRCA2\/FANCD1. Hum Mol Genet 12:2503\u20132510","journal-title":"Hum Mol Genet"},{"key":"9187_CR14","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","volume":"10","author":"S Sunyaev","year":"2001","unstructured":"Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591\u2013597","journal-title":"Hum Mol Genet"},{"key":"9187_CR15","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1126\/science.1073834","volume":"297","author":"NG Howlett","year":"2002","unstructured":"Howlett NG, Taniguchi T, Olson S et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606\u2013609","journal-title":"Science"},{"key":"9187_CR16","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.cancergencyto.2005.08.019","volume":"166","author":"L Jara","year":"2006","unstructured":"Jara L, Ampuero S, Santibanez E et al (2006) BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 166:36\u201345","journal-title":"Cancer Genet Cytogenet"},{"key":"9187_CR17","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10549-005-9047-1","volume":"95","author":"M Gallardo","year":"2006","unstructured":"Gallardo M, Silva A, Rubio L et al (2006) Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast\/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 95:81\u201387","journal-title":"Breast Cancer Res Treat"},{"key":"9187_CR18","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10549-006-9370-1","volume":"103","author":"D Torres","year":"2007","unstructured":"Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, Tawil M, Torregrosa L, Briceno I, Hamann U (2007) High proportion of BRCA1\/2 founder mutations in Hispanic breast\/ovarian cancer families from Colombia. Breast Cancer Res Treat 103:225\u2013232","journal-title":"Breast Cancer Res Treat"},{"key":"9187_CR19","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s10549-006-9378-6","volume":"103","author":"MC Gomes","year":"2007","unstructured":"Gomes MC, Costa MM, Borojevic R et al (2007) Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 103:349\u2013353","journal-title":"Breast Cancer Res Treat"},{"key":"9187_CR20","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/humu.1136","volume":"17","author":"A Vega","year":"2001","unstructured":"Vega A, Campos B, Bressac-De-Paillerets B et al (2001) The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17:520\u2013521","journal-title":"Hum Mutat"},{"key":"9187_CR21","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1086\/318787","volume":"68","author":"HA Risch","year":"2001","unstructured":"Risch HA, McLaughlin JR, Cole DEC et al (2001) Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Human Genet 68:700\u2013710","journal-title":"Am J Human Genet"},{"key":"9187_CR22","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1086\/303076","volume":"67","author":"MA Unger","year":"2000","unstructured":"Unger MA, Nathanson KL, Calzone K et al (2000) Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67:841\u2013850","journal-title":"Am J Hum Genet"},{"key":"9187_CR23","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1001\/jama.295.12.1379","volume":"295","author":"T Walsh","year":"2006","unstructured":"Walsh T, Casadei S, Coats KH et al (2006) Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379\u20131388","journal-title":"JAMA"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9187-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-008-9187-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9187-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:45:57Z","timestamp":1559252757000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-008-9187-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,20]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["9187"],"URL":"https:\/\/doi.org\/10.1007\/s10689-008-9187-7","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,20]]}}}