, Volume 10, Issue 2, pp 233-237,
Open Access This content is freely available online to anyone, anywhere at any time.
Date: 15 Mar 2011

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer


Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression.

Oral presentation in part at the 16th Hong Kong International Cancer Congress November 4–6, 2009 and publication only presentation in part at ASCO meeting May 29–June 2, 2009, Abstract No: e22143.