"Sequencing-grade" screening for BRCA1 variants by oligo-arrays

Alessandro Monaco, Filippo Menolascina, Yingdong Zhao, Stefania Tommasi, Marianna Sabatino, Ross Fasano, Angelo Paradiso, Francesco M Marincola, Ena Wang

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping. This cost-effective, high-throughput strategy has high sensitivity and the same degree of accuracy as direct sequencing, the current gold standard for genetic screening. We used the BRCA1 breast and ovarian cancer predisposing gene model for the validation of the accuracy and efficiency of our strategy. This process could detect point mutations, insertions or deletions of any length, of known and unknown variants even in heterozygous conditions without affecting sensitivity and specificity. The system could be applied to other disorders and can also be custom-designed to include a number of genes related to specific clinical conditions. This system is particularly useful for the screening of long genomic regions with relatively infrequent but clinically relevant variants, while drastically cutting time and costs in comparison to high-throughput sequencing.

Original languageEnglish
Pages (from-to)64
JournalJournal of translational medicine
Publication statusPublished - 2008

Keywords / Materials (for Non-textual outputs)

  • BRCA1 Protein
  • Base Sequence
  • Breast Neoplasms
  • Chromosomes, Human
  • DNA Mutational Analysis
  • Female
  • Genome, Human
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Ovarian Neoplasms
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Sensitivity and Specificity


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