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

• Main Authors: Llombart Pilar (Author), Garcia Ana (Author), Llopis Francisco (Author), Rubio Luis (Author), Fernandez-Serra Antonio (Author), Romero Ignacio (Author), Garcia-Casado Zaida (Author), Lopez-Guerrero Jose A (Author)
• Format: Book
• Published: BMC, 2011-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Germline mutations in either of the two tumor-suppressor genes, <it>BRCA1 </it>and <it>BRCA2</it>, 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.</p> <p>Methods</p> <p>We analysed <it>BRCA1 </it>and <it>BRCA2 </it>genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the <it>BRCA1 </it>deletion by Array CGH.</p> <p>Results</p> <p>We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a <it>de novo </it>complete <it>BRCA1 </it>gene deletion in the germinal line. The detected deletion started from the region surrounding the <it>VAT1 </it><it>locus </it>to the beginning of <it>NBR1 </it>gene, including the <it>RND2</it>, Ψ<it>BRCA1</it>, <it>BRCA1 </it>and <it>NBR2 </it>complete genes.</p> <p>Conclusion</p> <p>This finding supports the large genomic rearrangement screening of <it>BRCA </it>genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.</p>

Item Description

10.1186/1471-2350-12-134
1471-2350