, Volume 136, Issue 3, pp 931-933,
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Date: 26 Oct 2012

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

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To the Editor,

Breast cancer is the most frequently occurring malignancy in not only Western but also Asian women. Germline mutations in the breast cancer susceptibility genes, BRCA1 and BRCA2, are found in a significant proportion of patients affected by hereditary breast/ovarian cancer [1]. Pathogenic mutations in BRCA1 and BRCA2 are predominantly small deletions, insertions, and point mutations resulting in frame shift, nonsense, premature termination, or splice site alterations, which lead to the formation of a truncated BRCA protein. Owing to the richness of Alu sequences [2] in BRCA1 and BRCA2, albeit to a lesser extent in the latter gene, it is not surprising that BRCA1/2 genomic rearrangements are known to be mediated through Alu repeat sequences. Large genomic rearrangements (LGRs) have been increasingly reported and more than 80 different LGRs have been characterized in BRCA1, but less in BRCA2 [35]. One study in the United States reported that genetic testing, as currently c ...