{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:40:53Z","timestamp":1790959253769,"version":"4.1.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2008,7,16]],"date-time":"2008-07-16T00:00:00Z","timestamp":1216166400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2008,7,16]],"date-time":"2008-07-16T00:00:00Z","timestamp":1216166400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                        <jats:title>Introduction<\/jats:title>\n                        <jats:p>The cost of genetic testing and the limited knowledge about the <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes in different ethnic groups has limited its availability in medium- and low-resource countries, including Malaysia. In addition, the applicability of many risk-assessment tools, such as the Manchester Scoring System and BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) which were developed based on mutation rates observed primarily in Caucasian populations using data from multiplex families, and in populations where the rate of breast cancer is higher, has not been widely tested in Asia or in Asians living elsewhere. Here, we report the results of genetic testing for mutations in the <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> genes in a series of families with breast cancer in the multi-ethnic population (Malay, Chinese and Indian) of Malaysia.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Method<\/jats:title>\n                        <jats:p>A total of 187 breast cancer patients with either early-onset breast cancer (at age \u2264 40 years) or a personal and\/or family history of breast or ovarian cancer were comprehensively tested by full sequencing of both <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>. Two algorithms to predict the presence of mutations, the Manchester Scoring System and BOADICEA, were evaluated.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>Twenty-seven deleterious mutations were detected (14 in <jats:italic>BRCA1<\/jats:italic> and 13 in <jats:italic>BRCA2<\/jats:italic>), only one of which was found in two unrelated individuals (<jats:italic>BRCA2<\/jats:italic> 490 delCT). In addition, 47 variants of uncertain clinical significance were identified (16 in <jats:italic>BRCA1<\/jats:italic> and 31 in <jats:italic>BRCA2<\/jats:italic>). Notably, many mutations are novel (13 of the 30 <jats:italic>BRCA1<\/jats:italic> mutations and 24 of the 44 <jats:italic>BRCA2<\/jats:italic>). We report that while there were an equal proportion of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations in the Chinese population in our study, there were significantly more <jats:italic>BRCA2<\/jats:italic> mutations among the Malays. In addition, we show that the predictive power of the BOADICEA risk-prediction model and the Manchester Scoring System was significantly better for <jats:italic>BRCA1<\/jats:italic> than <jats:italic>BRCA2<\/jats:italic>, but that the overall sensitivity, specificity and positive-predictive value was lower in this population than has been previously reported in Caucasian populations.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusion<\/jats:title>\n                        <jats:p>Our study underscores the need for larger collaborative studies among non-Caucasian populations to validate the role of genetic testing and the use of risk-prediction models in ensuring that the other populations in the world may also benefit from the genomics and genetics era.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr2118","type":"journal-article","created":{"date-parts":[[2008,7,16]],"date-time":"2008-07-16T06:13:35Z","timestamp":1216188815000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":80,"title":["Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer"],"prefix":"10.1186","volume":"10","author":[{"given":"E","family":"Thirthagiri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SY","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DS","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GT","family":"Toh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Selamat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S-Y","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NA Mohd","family":"Taib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MK","family":"Thong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CH","family":"Yip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SH","family":"Teo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,7,16]]},"reference":[{"key":"2082_CR1","doi-asserted-by":"publisher","first-page":"5825","DOI":"10.1038\/sj.onc.1209881","volume":"25","author":"SM Domchek","year":"2006","unstructured":"Domchek SM, Weber BL: Clinical management of BRCA1 and BRCA2 mutation carriers. 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