{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:25:57Z","timestamp":1761488757826},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,10,5]],"date-time":"2011-10-05T00:00:00Z","timestamp":1317772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:p>Guti\u00e9rrez Espeleta GA, Llacuachaqui M, Garc\u00eda\u2010Jim\u00e9nez L, Aguilar Herrera M, Lo\u00e1iciga Vega K, Ortiz A, Royer R, Li S, Narod SA. <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations among familial breast cancer patients from Costa Rica.<\/jats:p><jats:p>The contribution of mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes to the burden of breast cancer in Costa Rica has not been studied. We estimated the frequency of <jats:italic>BRCA<\/jats:italic> mutations among 111 Costa Rican women with breast cancer and a family history of breast cancer. These women were mainly from the metropolitan area of San Jos\u00e9. A detailed family history was obtained from each patient and a blood sample was processed for DNA extraction. Mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> were sought using a combination of techniques and all mutations were confirmed by direct sequencing. Four different mutations were identified in five patients (four in <jats:italic>BRCA2<\/jats:italic> and one in <jats:italic>BRCA1<\/jats:italic>) representing 4.5% of the total. Two unrelated patients were found to have a <jats:italic>BRCA2<\/jats:italic> 5531delTT mutation. Other <jats:italic>BRCA2<\/jats:italic> mutations included C5507G and 6174delT. Only one <jats:italic>BRCA1<\/jats:italic> mutation was found (C3522T). The family with the <jats:italic>BRCA1<\/jats:italic> mutation had five cases of gastric cancer. Families with <jats:italic>BRCA2<\/jats:italic> mutations were also reported to have cases of gastric and prostate cancers; however, the full range of cancers associated with <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations in Costa Rica has not yet been established.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01774.x","type":"journal-article","created":{"date-parts":[[2011,9,5]],"date-time":"2011-09-05T17:39:13Z","timestamp":1315244353000},"page":"484-488","source":"Crossref","is-referenced-by-count":19,"title":["<i>BRCA1<\/i> and <i>BRCA2<\/i> mutations among familial breast cancer patients from Costa Rica"],"prefix":"10.1111","volume":"82","author":[{"given":"GA","family":"Guti\u00e9rrez Espeleta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Llacuachaqui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Garc\u00eda\u2010Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Aguilar Herrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Lo\u00e1iciga Vega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Ortiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Royer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SA","family":"Narod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,10,5]]},"reference":[{"key":"e_1_2_7_2_2","unstructured":"International Agency for Research on Cancer. 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