A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer
| Autor: | Luis Rubio, Francisco Llopis, Ana García, José Antonio López-Guerrero, Zaida García-Casado, Pilar Llombart, Antonio Fernandez-Serra, Ignacio A. Romero |
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| Přispěvatelé: | UAM. Departamento de Biología Molecular |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male lcsh:Internal medicine lcsh:QH426-470 endocrine system diseases Nonsense mutation Genes BRCA2 Genes BRCA1 Spanish woman Locus (genetics) Breast Neoplasms Biology Breast cancer Germline mutation medicine Genetics Humans Genetics(clinical) Multiplex ligation-dependent probe amplification lcsh:RC31-1245 skin and connective tissue diseases Gene Genetics (clinical) Comparative Genomic Hybridization medicine.disease BRCA1 Biología y Biomedicina / Biología Pedigree lcsh:Genetics Female Ovarian cancer Gene Deletion Comparative genomic hybridization Research Article |
| Zdroj: | BMC Medical Genetics Biblos-e Archivo. Repositorio Institucional de la UAM instname BMC Medical Genetics, Vol 12, Iss 1, p 134 (2011) |
| ISSN: | 1471-2350 |
| Popis: | 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 by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH. Results 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 de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes. Conclusion This 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. |
| Databáze: | OpenAIRE |
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