A family history of breast cancer is one of the most important risk factors for the disease. Over the last decades many genetic loci associated with breast cancer risk have been discovered. In... Show moreA family history of breast cancer is one of the most important risk factors for the disease. Over the last decades many genetic loci associated with breast cancer risk have been discovered. In spite of this, only approximately half of the familial relative risk (FRR) for breast cancer can be explained by the currently known genetic risk factor. In this thesis we have explored the role of rare genetic variants in familial breast cancer with the help of next generation sequencing. Through this approach we have not been able to identify any novel high-risk breast cancer susceptibility alleles. Although there are likely still several extremely rare risk alleles to be discovered and the presence of high-risk alleles outside of protein-coding regions cannot be excluded, it seems presently unlikely that these will explain a substantial proportion of familial breast cancer. Both our work and that of others has suggested that most non BRCA1/2 familial breast cancer cases are likely explained by a combination of low-, and moderate-risk susceptibility alleles. Show less
Bodo, S.; Colas, C.; Buhard, O.; Collura, A.; Tinat, J.; Lavoine, N.; ... ; European Consortium Care CMMRD 2015
This thesis provides a comparison of mostly perceptual development during vocal learning in songbirds (zebra finches) and human infants. The aim is to disentangle experience dependent and... Show moreThis thesis provides a comparison of mostly perceptual development during vocal learning in songbirds (zebra finches) and human infants. The aim is to disentangle experience dependent and independent processes during vocal learning. In both human infants and juvenile songbirds, a perceptual preference for __universal__ sounds was found, independent of adult auditory input. Later in development, both infants and juvenile songbirds show a change is preference. The juvenile songbirds clearly change their preference towards sounds they have been auditorily exposed to (chapter 3). In human infants in the influence of experience is less clear in this thesis. In combination with previous literature the most likely scenario is a combination of experience dependent and independent processes (chapter 2). To further compare human and birdsong phonology, a __typology__ of zebra finch song elements was performed (chapter 4). The results of this study indicate commonality as well as variation between populations in terms of phonology. In the order of elements within a sequence however, there is little evidence for common patterns across populations and there is variation within and between populations. In summary, this thesis shows similarities in developmental mechanisms in two vocally learning species. There might be a link between development and typology. Show less
