http://repub.eur.nl/res/aut/48308/ List of Publications en http://repub.eur.nl/static-eur/img/logo.png http://repub.eur.nl http://repub.eur.nl/res/pub/40057/ 2013-05-08T00:00:00Z The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found in the cohort of 1434 sporadic breast cancer patients, suggesting an increased breast cancer risk for 1100delC homozygotes (odds ratio 3.4, 95% confidence interval 0.4-32.6, P=0.3). Another 1100delC homozygote was found in 592 individuals from 108 non-BRCA1/2 breast cancer families, and two more were found after testing 1706 breast tumors and confirming homozygosity on their wild-type DNA. Follow-up data was available for five homozygous patients, and remarkably, three of them had developed contralateral breast cancer. A possible relationship between 1100delC and lung cancer risk was investigated in 457 unrelated lung cancer patients but could not be confirmed. Due to the small number of 1100delC homozygotes identified, the breast cancer risk estimate associated with this genotype had limited accuracy but is probably higher than the risk in heterozygous females. Screening for CHEK2 1100delC could be beneficial in countries with a relatively high allele frequency.European Journal of Human Genetics advance online publication, 8 May 2013; doi:10.1038/ejhg.2013.85. http://repub.eur.nl/res/pub/32618/ 2012-02-01T00:00:00Z Thinking about the abstract concept power may automatically activate the spatial up-down image schema (powerful up; powerless down) and consequently direct spatial attention to the image schema-congruent location. Participants indicated whether a word represented a powerful or powerless person (e.g. 'king' or 'servant'). Following each decision, they identified a target at the top or bottom of the visual field. In Experiment 1 participants identified the target faster when their spatial position was congruent with the perceived power of the preceding word than when it was incongruent. In Experiment 2 ERPs showed a higher N1 amplitude for congruent spatial positions. These results support the view that attention is driven to the image schema congruent location of a power word. Thus, power is partially understood in terms of vertical space, which demonstrates that abstract concepts are grounded in sensory-motor processing.