BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history
In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast...
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| Veröffentlicht in: | PloS one 2008-04, Vol.3 (4), p.e2024-e2024 |
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| creator | Toh, Gaik Theng Kang, Peter Lee, Sharlene S W Lee, Daphne Shin-Chi Lee, Sheau Yee Selamat, Suhaida Mohd Taib, Nur Aishah Yoon, Sook-Yee Yip, Cheng Har Teo, Soo-Hwang |
| description | In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised.
Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease ( |
| doi_str_mv | 10.1371/journal.pone.0002024 |
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Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease (<or=40 years) and no reported family history. Mutational analysis of BRCA1 and BRCA2 was conducted by full sequencing of all exons and intron-exon junctions.
Here, we report a total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel (3 BRCA1 and 5 BRCA2). One deleterious BRCA1 mutation and 2 deleterious BRCA2 mutations, all of which are novel mutations, were identified in 3 of 37 individuals. This represents a prevalence of 2.7% and 5.4% respectively, which is consistent with other studies in other Asian ethnic groups (4-9%).</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0002024</identifier><identifier>PMID: 18431501</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Age ; Age of Onset ; BRCA1 protein ; BRCA1 Protein - genetics ; BRCA2 protein ; BRCA2 Protein - genetics ; Breast cancer ; Breast carcinoma ; Breast Neoplasms - epidemiology ; Breast Neoplasms - genetics ; Cancer ; Cancer genetics ; Disease susceptibility ; Exons ; Family ; Female ; Gene mutation ; Genetic aspects ; Genetics ; Genetics and Genomics/Cancer Genetics ; Genetics and Genomics/Medical Genetics ; Genetics and Genomics/Population Genetics ; Germ-Line Mutation ; Health risk assessment ; Humans ; Malaysia - epidemiology ; Minority & ethnic groups ; Multiculturalism ; Mutation ; Ovarian cancer</subject><ispartof>PloS one, 2008-04, Vol.3 (4), p.e2024-e2024</ispartof><rights>COPYRIGHT 2008 Public Library of Science</rights><rights>2008 Toh et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Toh et al. 2008</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c662t-ca7a4c4ddaacf3a84777bd93d8b9363968623e67179e51b6260e4c0df5c7d7423</citedby><cites>FETCH-LOGICAL-c662t-ca7a4c4ddaacf3a84777bd93d8b9363968623e67179e51b6260e4c0df5c7d7423</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2295262/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2295262/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18431501$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Carter, Dee A.</contributor><creatorcontrib>Toh, Gaik Theng</creatorcontrib><creatorcontrib>Kang, Peter</creatorcontrib><creatorcontrib>Lee, Sharlene S W</creatorcontrib><creatorcontrib>Lee, Daphne Shin-Chi</creatorcontrib><creatorcontrib>Lee, Sheau Yee</creatorcontrib><creatorcontrib>Selamat, Suhaida</creatorcontrib><creatorcontrib>Mohd Taib, Nur Aishah</creatorcontrib><creatorcontrib>Yoon, Sook-Yee</creatorcontrib><creatorcontrib>Yip, Cheng Har</creatorcontrib><creatorcontrib>Teo, Soo-Hwang</creatorcontrib><title>BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised.
Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease (<or=40 years) and no reported family history. Mutational analysis of BRCA1 and BRCA2 was conducted by full sequencing of all exons and intron-exon junctions.
Here, we report a total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel (3 BRCA1 and 5 BRCA2). One deleterious BRCA1 mutation and 2 deleterious BRCA2 mutations, all of which are novel mutations, were identified in 3 of 37 individuals. This represents a prevalence of 2.7% and 5.4% respectively, which is consistent with other studies in other Asian ethnic groups (4-9%).</description><subject>Adult</subject><subject>Age</subject><subject>Age of Onset</subject><subject>BRCA1 protein</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 protein</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast cancer</subject><subject>Breast carcinoma</subject><subject>Breast Neoplasms - epidemiology</subject><subject>Breast Neoplasms - genetics</subject><subject>Cancer</subject><subject>Cancer genetics</subject><subject>Disease susceptibility</subject><subject>Exons</subject><subject>Family</subject><subject>Female</subject><subject>Gene mutation</subject><subject>Genetic aspects</subject><subject>Genetics</subject><subject>Genetics and Genomics/Cancer Genetics</subject><subject>Genetics and Genomics/Medical Genetics</subject><subject>Genetics and Genomics/Population Genetics</subject><subject>Germ-Line Mutation</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>Malaysia - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Toh, Gaik Theng</au><au>Kang, Peter</au><au>Lee, Sharlene S W</au><au>Lee, Daphne Shin-Chi</au><au>Lee, Sheau Yee</au><au>Selamat, Suhaida</au><au>Mohd Taib, Nur Aishah</au><au>Yoon, Sook-Yee</au><au>Yip, Cheng Har</au><au>Teo, Soo-Hwang</au><au>Carter, Dee A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2008-04-23</date><risdate>2008</risdate><volume>3</volume><issue>4</issue><spage>e2024</spage><epage>e2024</epage><pages>e2024-e2024</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised.
Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease (<or=40 years) and no reported family history. Mutational analysis of BRCA1 and BRCA2 was conducted by full sequencing of all exons and intron-exon junctions.
Here, we report a total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel (3 BRCA1 and 5 BRCA2). One deleterious BRCA1 mutation and 2 deleterious BRCA2 mutations, all of which are novel mutations, were identified in 3 of 37 individuals. This represents a prevalence of 2.7% and 5.4% respectively, which is consistent with other studies in other Asian ethnic groups (4-9%).</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>18431501</pmid><doi>10.1371/journal.pone.0002024</doi><tpages>e2024</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Age Age of Onset BRCA1 protein BRCA1 Protein - genetics BRCA2 protein BRCA2 Protein - genetics Breast cancer Breast carcinoma Breast Neoplasms - epidemiology Breast Neoplasms - genetics Cancer Cancer genetics Disease susceptibility Exons Family Female Gene mutation Genetic aspects Genetics Genetics and Genomics/Cancer Genetics Genetics and Genomics/Medical Genetics Genetics and Genomics/Population Genetics Germ-Line Mutation Health risk assessment Humans Malaysia - epidemiology Minority & ethnic groups Multiculturalism Mutation Ovarian cancer |
| title | BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history |
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