{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T02:00:16Z","timestamp":1780624816392,"version":"3.54.1"},"reference-count":23,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sao Paulo Med. J."],"published-print":{"date-parts":[[2005]]},"abstract":"<jats:p>CONTEXT AND OBJECTIVE: BRCA1 and BRCA2 are the two principal hereditary breast cancer susceptibility genes, and the prevalence of their mutations among Brazilian women is unknown. The objective was to detect BRCA1 and BRCA2 mutations in Brazilian patients with breast cancer, so as to establish genetic profiles. DESIGN AND SETTING: Cross-sectional study, in Centro de Aten\u00e7\u00e3o Integral \u00e0 Sa\u00fade da Mulher, Universidade Estadual de Campinas, Brazil, and Institute of Pathology and Molecular Immunology, University of Porto, Portugal. METHODS: Thirty-one breast cancer patients with positive family history (criteria from the Breast Cancer Linkage Consortium) were studied, and genomic DNA was extracted from peripheral blood. Single-strand conformation polymorphism was used for the analysis of exons 2, 3, 5, and 20 of BRCA1. Cases showing PCR products with abnormal bands were sequenced. Exon 11 of BRCA1 and exons 10 and 11 of BRCA2 were directly sequenced in both directions. RESULTS: Four mutations were detected: one in BRCA1 and three in BRCA2. The BRCA1 mutation is a frameshift located at codon 1756 of exon 20: 5382 ins C. Two BRCA2 mutations were nonsense mutations located at exon 11: S2219X and the other was an unclassified variant located at exon 11: C1290Y. CONCLUSION: The BRCA1 or BRCA2 mutation prevalence found among women with breast cancer and such family history was 13% (4\/31). Larger studies are needed to establish the significance of BRCA mutations among Brazilian women and the prevalence of specific mutations.<\/jats:p>","DOI":"10.1590\/s1516-31802005000400007","type":"journal-article","created":{"date-parts":[[2006,1,9]],"date-time":"2006-01-09T12:46:41Z","timestamp":1136810801000},"page":"192-197","source":"Crossref","is-referenced-by-count":34,"title":["Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history"],"prefix":"10.1590","volume":"123","author":[{"given":"Rozany Mucha","family":"Dufloth","sequence":"first","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil; University of Porto,  Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00edlvia","family":"Carvalho","sequence":"additional","affiliation":[{"name":"University of Porto,  Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Karina","family":"Heinrich","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falia Yoriko","family":"Shinzato","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar Cabello dos","family":"Santos","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Carlos","family":"Zeferino","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Schmitt","sequence":"additional","affiliation":[{"name":"University of Porto,  Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev.genet.32.1.95","article-title":"The genetics of breast cancer susceptibility","volume":"32","author":"Rahman N","year":"1998","journal-title":"Annu Rev Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0066-4197","issn-type":"print"},{"issue":"1","key":"ref2","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S0959-437X(98)80056-7","article-title":"Functions of BRCA1 and BRCA2 genes","volume":"8","author":"Bertwistle D","year":"1998","journal-title":"Curr Opin Genet Dev","ISSN":"https:\/\/id.crossref.org\/issn\/0959-437X","issn-type":"print"},{"issue":"8759","key":"ref3","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/0140-6736(91)90076-2","article-title":"Familial breast-ovarian cancer locus on chromosome 17q12-q23","volume":"338","author":"Narod SA","year":"1991","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0099-5355","issn-type":"print"},{"issue":"2","key":"ref4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/BF01810778","article-title":"Clinical\/genetic features in hereditary breast cancer","volume":"15","author":"Lynch HT","year":"1990","journal-title":"Breast Cancer Res Treat","ISSN":"https:\/\/id.crossref.org\/issn\/0167-6806","issn-type":"print"},{"issue":"4","key":"ref5","first-page":"678","article-title":"Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium","volume":"52","author":"Easton DF","year":"1993","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"407","DOI":"10.3109\/02841869609109913","article-title":"Genetic heterogeneity in breast cancer susceptibility","volume":"35","author":"Andersen TI","year":"1996","journal-title":"Acta Oncol","ISSN":"https:\/\/id.crossref.org\/issn\/0284-186X","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1146\/annurev.med.49.1.425","article-title":"Hereditary breast cancer","volume":"49","author":"Ellisen LW","year":"1998","journal-title":"Annu Rev Med","ISSN":"https:\/\/id.crossref.org\/issn\/0066-4219","issn-type":"print"},{"issue":"5","key":"ref8","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1002\/(SICI)1097-0215(19970529)71:5<800::AID-IJC18>3.0.CO;2-B","article-title":"Family history and the risk of breast cancer: a systematic review and meta-analysis","volume":"71","author":"Pharoah PD","year":"1997","journal-title":"Int J Cancer","ISSN":"https:\/\/id.crossref.org\/issn\/0020-7136","issn-type":"print"},{"issue":"3","key":"ref9","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1097\/00005792-199805000-00006","article-title":"Breast cancer susceptibility genes: BRCA1 and BRCA2","volume":"77","author":"Brody LC","year":"1998","journal-title":"Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0025-7974","issn-type":"print"},{"issue":"4988","key":"ref10","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1126\/science.2270482","article-title":"Linkage of early-onset familial breast cancer to chromosome 17q21","volume":"250","author":"Hall JM","year":"1990","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"5182","key":"ref11","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 Y","year":"1994","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"5181","key":"ref12","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1126\/science.8091231","article-title":"Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13","volume":"265","author":"Wooster R","year":"1994","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"6559","key":"ref13","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","article-title":"Identification of the breast cancer susceptibility gene BRCA2","volume":"378","author":"Wooster R","year":"1995","journal-title":"Nature","ISSN":"https:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"key":"ref14","series-title":"An open access on-line breast cancer mutation data base: An International Collaborative Effort hosted by NHGRI"},{"issue":"9064","key":"ref15","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1016\/S0140-6736(96)10109-4","article-title":"Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium","volume":"349","year":"1997","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0099-5355","issn-type":"print"},{"key":"ref16","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook J","year":"1989","edition":"2nd"},{"issue":"20","key":"ref17","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1056\/NEJM199705153362001","article-title":"The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews","volume":"336","author":"Struewing JP","year":"1997","journal-title":"N Engl J Med","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"4","key":"ref18","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1186\/bcr305","article-title":"Breast cancer mortality among Ashkenazi Jewish women in S\u00e3o Paulo and Porto Alegre, Brazil","volume":"3","author":"Koifman S","year":"2001","journal-title":"Breast Cancer Res"},{"issue":"4","key":"ref19","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/humu.9126","article-title":"Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations","volume":"21","author":"Duran M","year":"2003","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"1","key":"ref20","first-page":"29","article-title":"Patolog\u00eda del c\u00e1ncer de mama hereditario","volume":"14","author":"Schmitt FC","year":"2001","journal-title":"Rev Senolog\u00eda y Patol Mam"},{"issue":"10","key":"ref21","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.4067\/S0034-98872002001000005","article-title":"Frecuencia de la mutaci\u00f3n 185delAG en el gen BRCA1 en mujeres chilenas sanas con antecedentes familiares de c\u00e1ncer de mama","volume":"130","author":"Jara L","year":"2002","journal-title":"Rev Med Chil","ISSN":"https:\/\/id.crossref.org\/issn\/0034-9887","issn-type":"print"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1155\/1999\/301601","article-title":"BRCA1 mutation analysis in a Portuguese population with early-onset breast and\/or ovarian cancer","volume":"15","author":"Soares R","year":"1999","journal-title":"Disease Markers","ISSN":"https:\/\/id.crossref.org\/issn\/0278-0240","issn-type":"print"},{"issue":"5","key":"ref23","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/S0014-2565(02)71047-3","article-title":"An\u00e1lisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con c\u00e1ncer de mama y ovario del norte de Portugal y Galicia","volume":"202","author":"Duarte F","year":"2002","journal-title":"Rev Clin Esp","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2565","issn-type":"print"}],"container-title":["Sao Paulo Medical Journal"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/spmj\/v123n4\/a07v1234.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T05:30:57Z","timestamp":1495690257000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1516-31802005000400007&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005]]}},"alternative-id":["S1516-31802005000400007"],"URL":"https:\/\/doi.org\/10.1590\/s1516-31802005000400007","relation":{},"ISSN":["1516-3180"],"issn-type":[{"value":"1516-3180","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}