Time filter

Source Type

Barcelona, Spain

Hernan I.,Molecular Genetics Unit | Mane B.,Molecular Genetics Unit | Borras E.,Molecular Genetics Unit | de Sousa Dias M.,Molecular Genetics Unit | And 5 more authors.
Clinical and Translational Oncology

Purpose: To analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology. Methods: A population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed for germline mutations in BRCA1 and BRCA2 genes. The methodology relies on a 5 multiplex PCR assay coupled to NGS. Results: Ten pathogenic mutations (four in BRCA1 and six in BRCA2 gene) were identified in a Spanish population. The deletion c.1792delA, in exon 10, and the duplication c.5869dupA, in exon 11 of BRCA2 gene were not previously reported and should be considered as pathogenic due to its frameshift nature. Conclusion: Two novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS. © 2015, Federación de Sociedades Españolas de Oncología (FESEO). Source

Diez O.,University of Barcelona | Diez O.,Vall dHebron Institute of Oncology VHIO | Gutierrez-Enriquez S.,Vall dHebron Institute of Oncology VHIO | Gutierrez-Enriquez S.,University of Barcelona | And 5 more authors.
Breast Cancer Research and Treatment

We report a novel complex mutation that consists of a deletion of 12 bp and an insertion of 2 bp (c.8402-8413del12ins2bp) in the exon 18 of the BRCA2 gene. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon downstream in the 2729 position of the BRCA2 protein. The mutation was present in a Spanish hereditary male/female breast cancer family. © 2010 Springer Science+Business Media, LLC. Source

Discover hidden collaborations