The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations

Maria Teresa Ricci, Loredana Pennese, Viviana Gismondi, Chiara Perfumo, Marina Grasso, Elena Gennaro, Paolo Bruzzi, Liliana Varesco

Research output: Contribution to journalArticlepeer-review

Abstract

The identification of women with a high probability of being carriers of pathogenic BRCA mutation is not straightforward and a major improvement would be the availability of markers of mutations that could be directly evaluated in individuals asking for genetic testing. The FMR1 gene testing was recently proposed as a candidate prescreening tool because an association between BRCA pathogenic mutations and FMR1 genotypes with 'low alleles' (CGG repeat number

Original languageEnglish
Pages (from-to)280-282
Number of pages3
JournalEuropean Journal of Human Genetics
Volume22
Issue number2
DOIs
Publication statusPublished - Feb 2014

Keywords

  • BRCA
  • FMR1
  • HBOC
  • mutation screening

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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