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- Johnatty, S. E., et al.
(författare)
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No evidence that GATA3 rs570613 SNP modifies breast cancer risk
- 2009
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Ingår i: Breast Cancer Research and Treatment. - : Springer. - 0167-6806 .- 1573-7217. ; 117:2, s. 371-379
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Tidskriftsartikel (refereegranskat)abstract
- GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (P trend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269-2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-allele = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women.
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| 2. |
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Advances in Pattern-Based Ontology Engineering
- 2021
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Samlingsverk (redaktörskap) (refereegranskat)abstract
- Ontologies are the corner stone of data modeling and knowledge representation, and engineering an ontology is a complex task in which domain knowledge, ontological accuracy and computational properties need to be carefully balanced. As with any engineering task, the identification and documentation of common patterns is important, and Ontology Design Patterns (ODPs) provide ontology designers with a strong connection to requirements and a better communication of their semantic content and intent.This book, Advances in Pattern-Based Ontology Engineering, contains 23 extended versions of selected papers presented at the annual Workshop on Ontology Design and Patterns (WOP) between 2017 and 2020. This yearly event, which attracts a large number of researchers and professionals in the field of ontology engineering and ontology design patterns, covers issues related to quality aspects of ontology engineering and ODPs for data and knowledge representation, and is usually co-located with the International Semantic Web Conference (ISWC), apart from WOP 2020, which was held virtually due to the COVID-19 pandemic. Topics covered by the papers collected here focus on recent advances in ontology design and patterns, and range from a method to instantiate content patterns, through a proposal on how to document a content pattern, to a number of patterns emerging in ontology modeling in various situations and applications.The book provides an overview of important advances in ontology engineering and ontology design patterns, and will be of interest to all those working in the field.
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| 3. |
- Blomqvist, Eva, et al.
(författare)
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Preface
- 2021
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Ingår i: Advances in Pattern-Based Ontology Engineering. - Amsterdam : IOS Press. - 9781643681740 - 9781643681757 ; , s. i-viii
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Bokkapitel (refereegranskat)
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