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Novel complex genomic rearrangement of the BRCA1 gene

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2008
Initial BRCA1 and BRCA2 analyses conducted in breast and ovarian cancer families were focused on identification of mutations in coding sequences and splicing sites of the genes. Large genomic rearrangements as well as mutations in promoter or untranslated regions have been missed by standard detection strategies.
Michal, Zikan +4 more
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Ovarian Cancer Gene Therapy with BRCA1–An Overview

2003
The human breast and ovarian cancer susceptibility gene BRCA1 is a tumorsuppressor gene which is mutated and lost in hereditary breast and ovarian cancer, and has both alleles mutated in approximately 10-15% of cases of sporadic ovarian cancer. Studies of chromosome loss in ovarian cancer show that at least one allele of the BRCA1 gene is lost or ...
P S, Obermiller, J T, Holt
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Cloning and characterization of the BRCA1 gene

2012
Approximately 10% of all American women develop breast cancer during their lifetimes. A genetic trait which is passed through families in an autosomal dominant fashion is responsible for 5% to 10% of the cases. Women who care a breast cancer susceptibility gene have an 85% lifetime risk of breast cancer and also often have an increased risk of ...
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A human BRCA1 gene knockout