A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

Abstract excerpt

BACKGROUND: Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes. METHODS: We analysed BRCA1 and BRCA2 genes...

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