title: Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Two novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS.
authors.affiliation: Molecular Genetics Unit, Hospital de Terrassa, Ctra.Torrebonica, 08227, Terrassa, Barcelona, Spain, ihernan@cst.cat.
authors.forename: I
authors.initials: I
authors.lastname: Hernan
authors.forename: B
authors.initials: B
authors.lastname: Mañé
authors.forename: E
authors.initials: E
authors.lastname: Borràs
authors.forename: M
authors.initials: M
authors.lastname: de Sousa Dias
authors.forename: G
authors.initials: G
authors.lastname: Llort
authors.forename: C
authors.initials: C
authors.lastname: Yagüe
authors.forename: M J
authors.initials: MJ
authors.lastname: Gamundi
authors.forename: À
authors.initials: À
authors.lastname: Arcusa
authors.forename: M
authors.initials: M
authors.lastname: Carballo
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation / Q000235:genetics; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008875:Middle Aged; D013030:Spain; D044465:White People / Q000235:genetics