Publications by authors named "Merel Braspenning"

Article Synopsis
  • - The study investigated how a 313-variant Polygenic Risk Score (PRS) could enhance breast cancer (BC) risk predictions in non-Dutch families, beyond standard genetic testing.
  • - It included data from nearly 4,000 BC cases and analyzed the relationship between the PRS and BC occurrence, revealing a significant link that could adjust screening recommendations for up to 58% of individuals across different guidelines.
  • - The findings suggest that incorporating the PRS could be beneficial for managing BC risk in families with unknown genetic predispositions and those with known moderate-risk gene variants.
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Purpose: Because is a high-risk breast/ovarian cancer susceptibility gene, sequence variants of uncertain clinical significance (VUS) complicate genetic counseling. As most VUS are rare, reliable classification based on clinical and genetic data is often impossible. However, all pathogenic variants analyzed result in defective homologous recombination DNA repair (HRR).

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Objective: The notion of distinguishable processing mechanisms for spatial and spatiotemporal information has largely been neglected in the context of navigation. Only a recent neuropsychological case study has provided initial evidence for the idea that these elements can be differentiated at a functional level. The aim of the current study was therefore to critically verify this double dissociation by adopting a systematic, large-scale approach.

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In this large scale, individual differences study (N = 521), the effects of cardinal axes of an environment and the path taken between locations on distance comparisons were assessed. The main goal was to identify if and to what extent previous findings in simple 2D tasks can be generalized to a more dynamic, three-dimensional virtual reality environment. Moreover, effects of age and gender were assessed.

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