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  • Title: Cancer incidence among persons with fragile X syndrome in Finland: a population-based study.
    Author: Sund R, Pukkala E, Patja K.
    Journal: J Intellect Disabil Res; 2009 Jan; 53(1):85-90. PubMed ID: 18705633.
    Abstract:
    BACKGROUND: Fragile X syndrome is a common inheritable cause of intellectual disability (ID) and is characterised by a large number of CGG repeats at the gene FMR1 located on the X-chromosome. It has been reported that this genetic mechanism may protect against malignant transformations. METHODS: We extracted from the Finnish registry on persons with ID a cohort of 302 persons with a fragile X diagnosis during 1982-1986. Follow-up for cancer incidence was performed in the Finnish Cancer Registry until the end of the year 2005. RESULTS: There were 11 reported cancers during the mean follow-up of 21.4 years per person. The expected number of cancers based on the average Finnish population was 13.8 and no statistically significant protective effect was detected [standardised incidence ratios (SIR) 0.80, confidence interval (CI) 95% 0.40-1.4]. An increased risk for lip cancer was found (SIR 23, CI 95% 2.8-85). CONCLUSIONS: Confirmation of hypotheses about the mechanisms linking FXS and cancer needs further research.
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