R Sund1, E Pukkala, K Patja. 1. National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland. reijo.sund@stakes.fi
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.
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.
Authors: Shahinaz M Gadalla; Marie Lund; Ruth M Pfeiffer; Sanne Gørtz; Christine M Mueller; Richard T Moxley; Sigurdur Y Kristinsson; Magnus Björkholm; Fatma M Shebl; James E Hilbert; Ola Landgren; Jan Wohlfahrt; Mads Melbye; Mark H Greene Journal: JAMA Date: 2011-12-14 Impact factor: 56.272
Authors: Suzanne McDermott; James W Hardin; Julie A Royer; Joshua R Mann; Xin Tong; Orgul D Ozturk; Lijing Ouyang Journal: Am J Intellect Dev Disabil Date: 2015-05