Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients
Thirty patients with early onset breast cancer or familial breast cancer from Malaysia were analysed for germline mutation in the early onset breast cancer I gene (BRCA1). Direct sequencing of the entire coding region of BRCA1 identified a frameshift mutation, c.5447-5448insC (insC5447) (codon 1776...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Stamford Publishing Pte Ltd / Singapore Medical Association
2002
|
| Subjects: | |
| Online Access: | http://eprints.um.edu.my/3725/1/Mutational_analysis_of_the_BRCA1_gene_in.pdf |
| _version_ | 1825718847216287744 |
|---|---|
| author | Balraj, P. Khoo, A.S.B. Volpi, L. Tan, J.A.M.A. Nair, S. Abdullah, H. |
| author_facet | Balraj, P. Khoo, A.S.B. Volpi, L. Tan, J.A.M.A. Nair, S. Abdullah, H. |
| author_sort | Balraj, P. |
| collection | UM |
| description | Thirty patients with early onset breast cancer or familial breast cancer from Malaysia were analysed for germline mutation in the early onset breast cancer I gene (BRCA1). Direct sequencing of the entire coding region of BRCA1 identified a frameshift mutation, c.5447-5448insC (insC5447) (codon 1776 of exon 21) in a patient aged 32 of the Malay ethnic origin, who had no family history of breast and/or ovarian cancer. Eight polymorphisms (2201C > T, 2430T > C, P871L, E1038G, K1183R, 4427T > C, S1613G and IVS8-57delT) were identified in the samples tested. |
| first_indexed | 2024-03-06T05:10:36Z |
| format | Article |
| id | um.eprints-3725 |
| institution | Universiti Malaya |
| language | English |
| last_indexed | 2024-03-06T05:10:36Z |
| publishDate | 2002 |
| publisher | Stamford Publishing Pte Ltd / Singapore Medical Association |
| record_format | dspace |
| spelling | um.eprints-37252019-01-14T01:21:11Z http://eprints.um.edu.my/3725/ Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients Balraj, P. Khoo, A.S.B. Volpi, L. Tan, J.A.M.A. Nair, S. Abdullah, H. R Medicine Thirty patients with early onset breast cancer or familial breast cancer from Malaysia were analysed for germline mutation in the early onset breast cancer I gene (BRCA1). Direct sequencing of the entire coding region of BRCA1 identified a frameshift mutation, c.5447-5448insC (insC5447) (codon 1776 of exon 21) in a patient aged 32 of the Malay ethnic origin, who had no family history of breast and/or ovarian cancer. Eight polymorphisms (2201C > T, 2430T > C, P871L, E1038G, K1183R, 4427T > C, S1613G and IVS8-57delT) were identified in the samples tested. Stamford Publishing Pte Ltd / Singapore Medical Association 2002 Article PeerReviewed application/pdf en http://eprints.um.edu.my/3725/1/Mutational_analysis_of_the_BRCA1_gene_in.pdf Balraj, P. and Khoo, A.S.B. and Volpi, L. and Tan, J.A.M.A. and Nair, S. and Abdullah, H. (2002) Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients. Singapore Medical Journal, 43 (4). pp. 194-197. ISSN 0037-5675, |
| spellingShingle | R Medicine Balraj, P. Khoo, A.S.B. Volpi, L. Tan, J.A.M.A. Nair, S. Abdullah, H. Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title | Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title_full | Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title_fullStr | Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title_full_unstemmed | Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title_short | Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients |
| title_sort | mutation analysis of the brca1 gene in malaysian breast cancer patients |
| topic | R Medicine |
| url | http://eprints.um.edu.my/3725/1/Mutational_analysis_of_the_BRCA1_gene_in.pdf |
| work_keys_str_mv | AT balrajp mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients AT khooasb mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients AT volpil mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients AT tanjama mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients AT nairs mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients AT abdullahh mutationanalysisofthebrca1geneinmalaysianbreastcancerpatients |