title: Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.
abstract: BACKGROUND
  Currently, multiplex ligation-dependent probe amplification (MLPA) is the most commonly used technique for the detection of large genomic rearrangements (LGRs) in the BRCA1/2 genes. However, a very fast assay, the BRCA1/2 multiplex amplicon quantification (MAQ), has been recently developed by Multiplicom.
  
  
  METHODS
  As no data regarding the application of MAQ method to BRCA1/2 genes are available in literature, here we compared for the first time the performance of the MAQ assay with MLPA by using several positive BRCA1/2 LGRs DNA samples (previously tested by MLPA).
  
  
  RESULTS
  MAQ method was able to detect all BRCA1/2 LGRs and no false-positive or -negative results were obtained in independent repetitive experiments.
  
  
  CONCLUSIONS
  We can affirm that MAQ, as well as MLPA method, results to be valid and reproducible tools for molecular diagnostics and we are confident that this assay can be used for BRCA1/2 mutational screening as a fast and safe alternative to MLPA, particularly in the first line of analysis.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Enrica
authors.initials: E
authors.lastname: Mello
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Giovanni
authors.initials: G
authors.lastname: Scambia
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D055088:Early Detection of Cancer; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D019398:Genes, BRCA1 / Q000502:physiology*; D023281:Genomics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*