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Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
Hernan, I; Mañé, B; Borràs, E; Sousa Dias, M. de; Llort, G; Yagüe, C; Gamundi, MJ; Arcusa, A; Carballo, M.
Affiliation
  • Hernan, I; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
  • Mañé, B; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
  • Borràs, E; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
  • Sousa Dias, M. de; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
  • Llort, G; Coorci Sanitari de Terrassa. Vallès Oncologic Institute. Genetic Counseling Unit. Spain
  • Yagüe, C; Coorci Sanitari de Terrassa. Vallès Oncologic Institute. Genetic Counseling Unit. Spain
  • Gamundi, MJ; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
  • Arcusa, A; Hospital de Terrassa. Oncology Service. Terrassa. Spain
  • Carballo, M; Hospital de Terrassa. Molecular Genetics Unit. Terrassa. Spain
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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Subject(s)
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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
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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
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