Abstract
Studies in the Polish population provided evidence that four founder mutations in CHEK2 gene (1100delC, IVS2+1G>A, I157T, del5395) are associated with increased risk of cancers including breast, prostate, colon, kidney and thyroid. The substantial variability in cancer penetrance in mutation carriers can probably be explained by the influence of other genetic and/or environmental factors. Selenium is an essential component of several major metabolic pathways, including the antioxidant defense system and the immune system. It has been suggested that selenium and variations in selected selenoprotein genes may be risk factors for several cancer types.
Highlights
Studies in the Polish population provided evidence that four founder mutations in CHEK2 gene (1100delC, IVS2 +1G>A, I157T, del5395) are associated with increased risk of cancers including breast, prostate, colon, kidney and thyroid
In the group of the matched CHEK2 carriers mean selenium level was significantly lower in cancer patients than in healthy controls: 73.2μg/l vs. 78.5μg/l (p=0.002)
We found that the cancer risk decreased with increased Se concentration: individuals in IVth quartile (>86.28 μg/l) in comparison to those in Ist quartile (
Summary
Studies in the Polish population provided evidence that four founder mutations in CHEK2 gene (1100delC, IVS2 +1G>A, I157T, del5395) are associated with increased risk of cancers including breast, prostate, colon, kidney and thyroid. The substantial variability in cancer penetrance in mutation carriers can probably be explained by the influence of other genetic and/or environmental factors. Selenium is an essential component of several major metabolic pathways, including the antioxidant defense system and the immune system. It has been suggested that selenium and variations in selected selenoprotein genes may be risk factors for several cancer types
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