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Cancer incidence among persons with fragile X syndrome in Finland: a population‐based study
Author(s) -
Sund R.,
Pukkala E.,
Patja K.
Publication year - 2009
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.2008.01116.x
Subject(s) - fragile x syndrome , incidence (geometry) , cancer registry , intellectual disability , confidence interval , medicine , fmr1 , cancer , cohort , population , cohort study , demography , epidemiology , pediatrics , genetics , psychiatry , fragile x , biology , gene , environmental health , sociology , optics , physics
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.