Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients

Department of Surgery, The University of Hong Kong, Hong Kong SAR, China, .
Breast Cancer Research and Treatment (Impact Factor: 3.94). 10/2012; 136(3). DOI: 10.1007/s10549-012-2292-1
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Available from: James Ford, Dec 30, 2013
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    • "However studies done in these populations are limited. Several deletions and duplications have been reported from Singapore [9], Korea [8], Malaysia [10] and China [11]. There are no published reports on the analysis of BRCA1 and BRCA2 large genomic rearrangements in Sri Lankans and this study examined the possibility of such genomic rearrangements in a cohort in which point mutations and sequence variants in BRCA1 and BRCA2 were previously described [5,6]. "
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    ABSTRACT: Background Majority of mutations found to date in the BRCA1/BRCA2 genes in breast and/or ovarian cancer families are point mutations or small insertions and deletions scattered over the coding sequence and splice junctions. Such mutations and sequence variants of BRCA1 and BRCA2 genes were previously identified in a group of Sri Lankan breast cancer patients. Large genomic rearrangements have been characterized in BRCA1 and BRCA2 genes in several populations but these have not been characterized in Sri Lankan breast cancer patients. Findings A cohort of familial breast cancer patients (N = 57), at risk individuals (N = 25) and healthy controls (N = 23) were analyzed using multiplex ligation-dependent probe amplification method to detect BRCA1 and BRCA2 large genomic rearrangements. One familial breast cancer patient showed an ambiguous deletion in exon 6 of BRCA1 gene. Full sequencing of the ambiguous region was used to confirm MLPA results. Ambiguous deletion detected by MLPA was found to be a false positive result confirming that BRCA1 large genomic rearrangements were absent in the subjects studied. No BRCA2 rearrangement was also identified in the cohort. Conclusion Thus this study demonstrates that BRCA1 and BRCA2 large genomic rearrangements are unlikely to make a significant contribution to aetiology of breast cancer in Sri Lanka.
    BMC Research Notes 06/2014; 7(1):344. DOI:10.1186/1756-0500-7-344
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    • "Furthermore, LGRs account for 6.3% of the total mutations in BRCA1/2 genes in a Malaysian cohort [47]. A recent report from southern China found that 0.7% (4/555) of high-risk breast or ovarian cancer patients had LGRs in their BRCA genes, representing 5.8% of overall BRCA1/2 mutations in their cohort [48]. These studies suggest that LGRs in the BRCA genes of Asian high-risk patients amount to less than 7% of all BRCA mutations. "
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    ABSTRACT: Breast cancer is the most prevalent cancer in Asian females, and the incidence of breast cancer has been increasing in Asia. Because Asian patients develop breast cancer at a younger age than their Caucasian counterparts, the contributions of BRCA1 and BRCA2 (BRCA1/2) mutations in Asians are expected to be different than in Caucasians. The prevalence of BRCA1/2 mutations in the Asian population varies among countries and studies. Most Asian studies have reported more frequent mutations in BRCA2 than in BRCA1, with the exception of studies from India and Pakistan. In addition, the contribution of large genomic rearrangements of BRCA1/2 genes is relatively small in Asian populations in comparison to other ethnic populations. Various statistical models for the prediction of BRCA1/2 mutations have underestimated the risk of having these genetic mutations in Asians, especially in predicting BRCA2 gene mutation. Until recently, BRCA1/2 mutation analyses in Asia were mostly conducted by independent single institutions with different patient selection criteria and using various genotyping methods. However, a couple of Asian groups have initiated nationwide studies collecting BRCA1/2 mutational data. These national collaborative studies will help a comprehensive understanding of the prevalence of BRCA1/2 mutations in the Asian population.
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