Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/13866
Title: BRCA1 mutations in the family history clinic
Authors: IAU TSAU CHOONG, PHILIP
Keywords: BRCA, mutation screening, founder mutations, breast cancer.
Issue Date: 30-Apr-2004
Source: IAU TSAU CHOONG, PHILIP (2004-04-30). BRCA1 mutations in the family history clinic. ScholarBank@NUS Repository.
Abstract: The aim of this study is to assess the prevalence of BRCA1 mutation carriers based on epidemiological and histopathological risk factors. Affected individuals with a four times the risk of breast cancer, as well as patients with medullary breast cancers, and malay patients with early onset and and/or ovarian cancers underwent gene testing using a combination of protein truncation test and heteroduplex analysis. Ten percent of patients (20/199) with increased familial risk were found to be mutation carriers, suggesting that gene testing may be offered to such patients in the future. Among medullary breast cancer patients, 4.8% (2/42) were carriers, both of whom had significant epidemiological risk, suggesting the histopathological factors may not be effective as a selection criteria for screening. In the malay study group, evidence of a founder mutation was found. The clinical implications of these results, and the areas of future research are discussed.
URI: http://scholarbank.nus.edu.sg/handle/10635/13866
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