Article
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
European journal of human genetics : EJHG - 1 Feb 2014
Ricci Maria Teresa, Pennese Loredana, Gismondi Viviana, Perfumo Chiara, Grasso Marina, Gennaro Elena, Bruzzi Paolo, Varesco Liliana
Abstract excerpt
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...
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