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 Chines...

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Bibliographic Details
Published in:Familial cancer 2011-06, Vol.10 (2), p.233-237
Main Authors: Kwong, Ava, Ng, Enders K. O., Tang, Edmund Y. H., Wong, Chris L. P., Law, Fian B. F., Leung, Candy P. H., Chan, Aaron, Cheung, M. T., To, M. Y., Ma, Edmond S. K., West, Dee W., Ford, James M.
Format: Article
Language:English
Subjects:
Adult
Biomedical and Life Sciences
Biomedicine
Breast Neoplasms - genetics
Cancer Research
China
Epidemiology
Female
Genes, BRCA1
Genes, BRCA2
Human Genetics
Humans
Mutation
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-011-9429-y