title: Using MLPA for large genomic rearrangements detection in breast cancer predisposition genes.
abstract: Breast and ovarian cancer are common pathologies in women, with increasing incidences worldwide. In hereditary breast and ovarian cancer (HBOC) families, a large percentage of cases are attributable to hereditary factors compatibles with dominant autosomal transmission of a major tumour suppressor gene with incomplete penetrance. Screening for BRCA1 mutations is now standard practice for HBOC cases in western world, and permits medical follow-up and genetic counselling. Over 300 BRCA1 germinal mutations are stored in the Breast Cancer Information Core (BIC) mutation database.
  
  
  METHODS
  Estimates in different countries range from 5 to 15% the BRCA1 related cases of hereditary breast cancer due to copy number changes of one or more exons of this gene. Exon deletions and amplifications will usually not be detected by sequence analysis of the complete BRCA1 gene, therefore MLPA screening is needed.
  
  
  RESULTS
  Here we describe Multiplex Ligation-dependent Probe Amplification technique (MLPA) implementation for BRCA1 large genomic rearrangements.
  
  
  CONCLUSIONS
  We did not detect any BRCA1 mutation by analysis of 15 HBOC recruited patients.
authors.affiliation: School of Medicine, Department of Immunology, "Gr.T. Popa" University of Medicine and Pharmacy Iaşi.
authors.forename: L
authors.initials: L
authors.lastname: Negură
authors.forename: E
authors.initials: E
authors.lastname: Carasevici
authors.forename: V
authors.initials: V
authors.lastname: Artenie
authors.forename: Anca
authors.initials: A
authors.lastname: Negură
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity
chemical_list: D014408:Biomarkers, Tumor