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 <26) was observed. To confirm this hypothesis, we evaluated the distribution of FMR1 alleles and genotypes between BRCA mutation carriers and non-carriers in a cohort of 147 Italian women, free of cancer or affected by breast and/or ovarian cancer, who were tested for the presence of BRCA mutation in a clinical setting. The distribution of FMR1 CGG repeat numbers in the two groups was similar (lower allele median/mean were 30/27.4 and 30/27.9, respectively; Mann–Whitney test P=0.997) and no difference in the FMR1 genotype distribution was present (χ2=0.503, d.f.=2, P=0.78). This result is in contrast with literature data and suggests that FMR1 genetic testing is not a candidate BRCA prescreening tool.
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Acknowledgements
This work was supported by the Italian Association for Research on Cancer (AIRC) (Project IG 5706 2008). We thank Dr Francesca Faravelli for helpful discussions on the ethical implications of the study.
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Ricci, M., Pennese, L., Gismondi, V. et al. The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations. Eur J Hum Genet 22, 280–282 (2014). https://doi.org/10.1038/ejhg.2013.193
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DOI: https://doi.org/10.1038/ejhg.2013.193
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