Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
Clin. transl. oncol. (Print)
; 17(7): 576-580, jul. 2015. tab, ilus
Article
in English
| IBECS
| ID: ibc-138455
Responsible library:
ES1.1
Localization: BNCS
ABSTRACT
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 (AU)
RESUMEN
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Breast Neoplasms
/
BRCA1 Protein
/
BRCA2 Protein
/
Genes, BRCA2
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
Language:
English
Journal:
Clin. transl. oncol. (Print)
Year:
2015
Document type:
Article
Institution/Affiliation country:
Coorci Sanitari de Terrassa/Spain
/
Hospital de Terrassa/Spain