{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T07:05:55Z","timestamp":1765609555936},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T00:00:00Z","timestamp":1365120000000},"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":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We sought to identify the full range of founder mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic> in the Bahamas and to estimate the proportion of all <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic> mutations that are accounted for by founder mutations. We studied 214 Bahamian women with invasive breast cancer, unselected for age or family history. A founder mutation had previously been identified in 49 patients. We conducted full sequencing of the <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic> genes and multiplex ligation\u2010dependent probe amplification (<jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>) for 156 patients. A novel founder mutation in <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic> (exon 17 <jats:styled-content style=\"fixed-case\">818delA<\/jats:styled-content>) was seen in four different patients and five other unique mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic>, including a large deletion (exons 8\u20139) in <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic>. In total, a mutation was seen in 58 of the 214 patients (27%); 92% of carriers carried one of the seven founder mutations. Approximately 27% of unselected cases of breast cancer in the Bahamian population are attributable to a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic>, a prevalence which far exceeds that of any other country. The majority of women who carry a mutation in the Bahamas, carry one of the seven founder mutations, making it possible to offer genetic testing to all women at risk for breast cancer in the Bahamas.<\/jats:p>","DOI":"10.1111\/cge.12132","type":"journal-article","created":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T01:50:51Z","timestamp":1362448251000},"page":"64-67","source":"Crossref","is-referenced-by-count":49,"title":["The spectrum of <i><scp>BRCA1<\/scp><\/i> and <i><scp>BRCA2<\/scp><\/i> mutations in breast cancer patients in the Bahamas"],"prefix":"10.1111","volume":"85","author":[{"given":"MR","family":"Akbari","sequence":"first","affiliation":[{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Donenberg","sequence":"additional","affiliation":[{"name":"Sylvester Comprehensive Cancer Center University of Miami  Miami FL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Lunn","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology Doctors Hospital  Nassau Bahamas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Curling","sequence":"additional","affiliation":[{"name":"Department of Oncology Princess Margaret Hospital  Nassau Bahamas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Turnquest","sequence":"additional","affiliation":[{"name":"Department of Oncology Princess Margaret Hospital  Nassau Bahamas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Krill\u2010Jackson","sequence":"additional","affiliation":[{"name":"Mount Sinai Comprehensive Cancer Center  Miami FL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SA","family":"Narod","sequence":"additional","affiliation":[{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hurley","sequence":"additional","affiliation":[{"name":"Sylvester Comprehensive Cancer Center University of Miami  Miami FL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1156-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.24200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.27326"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.295.12.1379"},{"key":"e_1_2_6_6_1","unstructured":"Breast Cancer Information Core (BIC). An open access online breast cancer mutation data base. Accessed on November 20 2012 fromhttp:\/\/www.nhgri.nih.gov\/Intramural_research\/Lab_transfer\/BIC\/"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.14.1241"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(20010520)95:3<189::AID-IJC1032>3.0.CO;2-N"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302922"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-0503"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.25.0712"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-006-9261-5"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-011-1941-0"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12132","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12132","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T22:23:02Z","timestamp":1694643782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1111\/cge.12132"],"URL":"https:\/\/doi.org\/10.1111\/cge.12132","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,5]]}}}