BRCA unclassified variants: How can they be classified?

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Genetic screening of BRCA1 and BRCA2 genes is a recurrent practice in laboratories for counseling. In the last ~20 years, investigators have identified mutations with a founder effect, but also a series of private variants. Multi-component models have been developed to understand if a variant is deleterious or neutral. However, these models are not sufficient to understand the roles of UVs. In this review, we report results from genetic analyses, studies in animal models and bioinformatic analyses. To combine evidences from different approaches, consortia have been created (such as ENIGMA). There is a need to develop a reliable multi-factorial model. Furthermore, indirect assays and bioinformatic tools have to be improved in order to support such a model.

Original languageEnglish
Pages (from-to)30-37
Number of pages8
JournalCurrent Bioactive Compounds
Issue number1
Publication statusPublished - Jan 2012


  • BRCA1
  • BRCA2
  • Breast cancer
  • Consortia
  • UVs
  • Variants

ASJC Scopus subject areas

  • Pharmacology, Toxicology and Pharmaceutics(all)


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