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. (2002) Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients. Singapore medical journal, 43 (4). pp. 194-197. ISSN 0037-5675

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    Abstract

    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.

    Item Type: Article
    Creators:
    1. Balraj, P.
    2. Khoo, A.S.B.
    3. Volpi, L.
    4. Tan, J.A.M.A.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    5. Nair, S.
    6. Abdullah, H.
    Journal or Publication Title: Singapore medical journal
    Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
    Uncontrolled Keywords: BRCA1, Breast cancer, Ethnic, Mutation, Malaysian
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 08 Oct 2012 11:49
    Last Modified: 08 Oct 2012 11:49
    URI: http://eprints.um.edu.my/id/eprint/3725

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