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- Publisher
- Springer Journals
- Copyright
- Copyright © 2011 by The Author(s)
- Subject
- Biomedicine; Cancer Research ; Biomedicine general; Epidemiology; Human Genetics
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-011-9429-y
- pmid
- 21404118
- Publisher site
- See Article on Publisher Site
Abstract
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.
Journal
Familial Cancer – Springer Journals
Published: Mar 15, 2011