Abstract:
BACKGROUND:Breast cancer is increasing in Indonesia and other developing countries. Germline mutations in the BRCA1/2 genes are most strongly associated with a high risk for breast cancer development. There have been no reports on BRCA1/2 gene mutations in the Indonesian population. Genetic research yielding insight into mutations affecting the Indonesian population can help in risk assessment of individual patients. AIMS:To screen the BRCA1/2 genes for mutations in early onset Indonesian breast cancer patients and their families with a new, simple, and sensitive BRCA1/2 mutation screening strategy based on denaturing gradient gel electrophoresis (DGGE) and targeted sequencing. METHODS:DNA was isolated from the blood of four Indonesian breast cancer patients from high risk families and seven family members, and the polymerase chain reaction was performed with specially designed primers throughout the BRCA1/2 coding sequences to produce fragments suitable for pooled DGGE analysis. The aberrantly migrating samples were reamplified and sequenced. RESULTS:Two mutations were found in exons 13 and 16 of BRCA1 and two mutations in exons 2 and 14 of BRCA2, which turned out to be established polymorphisms according to the Breast Cancer Information Core. In addition, a novel 6 bp deletion in exon 11, leading to a premature stop, was found in BRCA2. CONCLUSION:Pooled DGGE and targeted sequencing revealed four BRCA1/2 polymorphisms and one novel BRCA2 mutation in a group of Indonesian patients at high risk of hereditary breast cancer. This illustrates that the proposed method is sensitive and particularly suited for screening unknown populations.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Purnomosari D,Paramita DK,Aryandono T,Pals G,van Diest PJdoi
10.1136/jcp.2004.020388keywords:
subject
Has Abstractpub_date
2005-05-01 00:00:00pages
493-9issue
5eissn
0021-9746issn
1472-4146pii
58/5/493journal_volume
58pub_type
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journal_title:Journal of clinical pathology
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journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
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更新日期:2008-10-01 00:00:00
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doi:10.1136/jcp.31.7.654
更新日期:1978-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:1982-05-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1970-10-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-06-01 00:00:00
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