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Fletta eftir efnisorði "Cancer genomics"

Fletta eftir efnisorði "Cancer genomics"

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    Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 
    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdóttir, Sylvía; Sigurðsson, Ásgeir; Hampel, Heather; Snaebjornsson, Petur; Másson, Gísli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; sulem, patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurðsson, Fridbjörn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdóttir, Margrét; Alexíusdóttir, Kristín; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jónasson, Jón Gunnlaugur; Goldberg, Richard M.; Stefansson, Kari (Springer Nature, 2017-05-03)
    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
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    Epigenetic inactivation of the splicing RNA-binding protein CELF2 in human breast cancer 
    Piqué, Laia; Martinez de Paz, Alexia; Piñeyro, David; Martínez-Cardús, Anna; Castro de Moura, Manuel; Llinàs-Arias, Pere; Setien, Fernando; Gomez-Miragaya, Jorge; Gonzalez-Suarez, Eva; Sigurdsson, Stefan; Jónasson, Jón G.; Villanueva, Alberto; Vidal, August; Davalos, Veronica; Esteller, Manel (Springer Science and Business Media LLC, 2019-08-13)
    Human tumors show altered patterns of protein isoforms that can be related to the dysregulation of messenger RNA alternative splicing also observed in transformed cells. Although somatic mutations in core spliceosome components and their associated ...
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    Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma 
    Gudbjartsson, Daniel; Thorsteinsdottir, Unnur (Springer Science and Business Media LLC, 2018-09-13)
    Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, ...