BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

<h4>Background</h4>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 o...

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Autores principales:	Gaik Theng Toh, Peter Kang, Sharlene S W Lee, Daphne Shin-Chi Lee, Sheau Yee Lee, Suhaida Selamat, Nur Aishah Mohd Taib, Sook-Yee Yoon, Cheng Har Yip, Soo-Hwang Teo
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2008
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c19650f53499424dbf6174e45d705597
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spelling	oai:doaj.org-article:c19650f53499424dbf6174e45d7055972021-11-25T06:12:43ZBRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.1932-620310.1371/journal.pone.0002024https://doaj.org/article/c19650f53499424dbf6174e45d7055972008-04-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18431501/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methodology</h4>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.<h4>Conclusions</h4>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%).Gaik Theng TohPeter KangSharlene S W LeeDaphne Shin-Chi LeeSheau Yee LeeSuhaida SelamatNur Aishah Mohd TaibSook-Yee YoonCheng Har YipSoo-Hwang TeoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 4, p e2024 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Gaik Theng Toh Peter Kang Sharlene S W Lee Daphne Shin-Chi Lee Sheau Yee Lee Suhaida Selamat Nur Aishah Mohd Taib Sook-Yee Yoon Cheng Har Yip Soo-Hwang Teo BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
description	<h4>Background</h4>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.<h4>Methodology</h4>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.<h4>Conclusions</h4>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%).
format	article
author	Gaik Theng Toh Peter Kang Sharlene S W Lee Daphne Shin-Chi Lee Sheau Yee Lee Suhaida Selamat Nur Aishah Mohd Taib Sook-Yee Yoon Cheng Har Yip Soo-Hwang Teo
author_facet	Gaik Theng Toh Peter Kang Sharlene S W Lee Daphne Shin-Chi Lee Sheau Yee Lee Suhaida Selamat Nur Aishah Mohd Taib Sook-Yee Yoon Cheng Har Yip Soo-Hwang Teo
author_sort	Gaik Theng Toh
title	BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
title_short	BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
title_full	BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
title_fullStr	BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
title_full_unstemmed	BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
title_sort	brca1 and brca2 germline mutations in malaysian women with early-onset breast cancer without a family history.
publisher	Public Library of Science (PLoS)
publishDate	2008
url	https://doaj.org/article/c19650f53499424dbf6174e45d705597
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BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

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