High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations

Breast Cancer Res Treat. 2009 May;115(2):405-14. doi: 10.1007/s10549-008-0073-7. Epub 2008 Jun 5.

Abstract

The majority of BRCA1 and BRCA2 mutation detection procedures include screening methods, all of which are time-consuming. High-resolution melting (HRM) is a promising pre-screening method of gene scanning that combines simplicity and rapid identification of genetic variants. We evaluated HRM in the screening of BRCA1/2 Spanish mutations. We studied 40 BRCA1 and 47 BRCA2 DNA samples with different Spanish mutations. We included a group of 20 unknown DNAs from patients with sporadic breast cancer (BC). The assay was performed with the LightCycler 480 Instrument (Roche). The HRM discriminates all the BRCA1/2 Spanish mutations studied from wild-type DNA. Besides, 54 out of 87 mutations were clearly differentiated from each other. In sporadic BC 11 polymorphisms and three unclassified variants were found in both genes. HRM is a valuable method for rapid screening of BRCA1/2 Spanish mutations and is capable of differentiating new genetic variants in PCR products.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis / methods*
  • DNA Primers
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide
  • Spain
  • Transition Temperature

Substances

  • DNA Primers