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  1. Article

    Open Access

    Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation

    Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial infarction primarily affecting women. It is not known to what extent SCAD is genetically distinct from other cardiovascular ...

    David Adlam, Takiy-Eddine Berrandou, Adrien Georges… in Nature Genetics (2023)

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  2. No Access

    Article

    Tau polygenic risk scoring: a cost-effective aid for prognostic counseling in Alzheimer’s disease

    Tau deposition is one of two hallmark features of biologically defined Alzheimer’s disease (AD) and is more closely related to cognitive decline than amyloidosis. Further, not all amyloid-positive individuals ...

    Vijay K. Ramanan, Michael G. Heckman, Timothy G. Lesnick… in Acta Neuropathologica (2022)

  3. Article

    Open Access

    8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness

    The four most commonly-mutated genes in clear cell renal cell carcinoma (ccRCC) tumors are BAP1, PBRM1, SETD2 and VHL. And, there are currently 14 known RCC germline variants that have been reproducibly shown to ...

    Jeanette E. Eckel-Passow, Huihuang Yan, Matthew L. Kosel, Daniel Serie… in BMC Urology (2020)

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  4. No Access

    Article

    Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

    Beatrice Melin, Richard Houlston, Melissa Bondy and colleagues report results of a large-scale genome-wide association study of glioma. They identify five new risk loci for glioblastoma and eight new risk loci...

    Beatrice S Melin, Jill S Barnholtz-Sloan, Margaret R Wrensch… in Nature Genetics (2017)

  5. No Access

    Article

    Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk

    Kyle Walsh and colleagues identify a variant near TERC associated with glioma susceptibility. They further show that glioma risk alleles near TERC and TERT are associated with longer mean telomere length in leuko...

    Kyle M Walsh, Veryan Codd, Ivan V Smirnov, Terri Rice, Paul A Decker… in Nature Genetics (2014)

  6. No Access

    Article

    A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation

    Robert Jenkins and colleagues report fine map** of the glioma risk region at 8q24.21. They identify a new low-frequency variant in the region that is strongly associated with risk of oligodendroglial tumors ...

    Robert B Jenkins, Yuanyuan **ao, Hugues Sicotte, Paul A Decker… in Nature Genetics (2012)

  7. No Access

    Article

    A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

    Simon Stacey, Kari Stefansson and colleagues show that a germline variant in the TP53 polyadenylation signal is associated with increased risk of basal cell carcinoma and other solid tumors.

    Simon N Stacey, Patrick Sulem, Aslaug Jonasdottir, Gisli Masson… in Nature Genetics (2011)

  8. No Access

    Article

    Association of genetic variation in mitotic kinases with breast cancer risk

    An RNAi-based functional screening of mitotic kinases in Drosophila recently identified a number of members of the kinome that are required for normal cell division. Depletion of these kinases resulted in a numbe...

    **anshu Wang, Zachary S. Fredericksen… in Breast Cancer Research and Treatment (2010)

  9. No Access

    Article

    Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

    Margaret Wrensch and colleagues report a genome-wide association and replication study for high-grade glioma. They show that common variants in the CDKN2B and RTEL1 regions are associated with risk of this aggres...

    Margaret Wrensch, Robert B Jenkins, Jeffrey S Chang, Ru-Fang Yeh… in Nature Genetics (2009)