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

BMC Medical Genetics

Research Article

Ana Garcia¹  Antonio Fernandez-Serra²  Zaida Garcia-Casado²  Luis Rubio²  Jose A Lopez-Guerrero²  Pilar Llombart³  Francisco Llopis⁴  Ignacio Romero⁵ 

[1] Gynecology Service, Fundación Instituto Valenciano de Oncología, Valencia, Spain;Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, Valencia, Spain;Psychology Unit, Fundación Instituto Valenciano de Oncología, Valencia, Spain;Service of General and Digestive Surgery, Fundación Instituto Valenciano de Oncología, Valencia, Spain;Unit of Genetic Counselling of hereditary cancer, Fundación Instituto Valenciano de Oncología, Valencia, Spain;

关键词: Comparative Genome Hybridization;    Array Comparative Genome Hybridization;    Congenital Diaphragmatic Hernia;    Strong Family History;    Large Genomic Rearrangement;   

DOI  :  10.1186/1471-2350-12-134

 received in 2011-06-14, accepted in 2011-10-11,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundGermline 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.MethodsWe analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH.ResultsWe describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes.ConclusionThis finding supports the large genomic rearrangement screening of BRCA 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.

【 授权许可】

Unknown   
© Garcia-Casado et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.