Valles Oncologic Institute

Barcelona, Spain

Valles Oncologic Institute

Barcelona, Spain
SEARCH FILTERS
Time filter
Source Type

Hernan I.,Hospital Of Terrassa | Mane B.,Hospital Of Terrassa | Borras E.,Hospital Of Terrassa | de Sousa Dias M.,Hospital Of Terrassa | And 5 more authors.
Clinical and Translational Oncology | Year: 2015

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).


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 | Year: 2010

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.

Loading Valles Oncologic Institute collaborators
Loading Valles Oncologic Institute collaborators