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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(2018-05)
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ...
Characterizing genetic variants for clinical action.
(2014-03-13)
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, ...
A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact.
(WILEY, 2011-07-18)
Genome wide association studies have identified several single nucleotide polymorphisms (SNPs) that are independently associated with small increments in risk of prostate cancer, opening up the possibility for using such ...
canSAR: an integrated cancer public translational research and drug discovery resource.
(OXFORD UNIV PRESS, 2012-01-01)
canSAR is a fully integrated cancer research and drug discovery resource developed to utilize the growing publicly available biological annotation, chemical screening, RNA interference screening, expression, amplification ...
Genetic and functional diversity of propagating cells in glioblastoma.
(CELL PRESS, 2015-01-13)
Glioblastoma (GBM) is a lethal malignancy whose clinical intransigence has been linked to extensive intraclonal genetic and phenotypic diversity and the common emergence of therapeutic resistance. This interpretation ...
Blood lipids and prostate cancer: a Mendelian randomization analysis.
(WILEY, 2016-06-01)
Genetic risk scores were used as unconfounded instruments for specific lipid traits (Mendelian randomization) to assess whether circulating lipids causally influence prostate cancer risk. Data from 22,249 prostate cancer ...
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants.
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2019-06-14)
PhyreRisk is an open-access, publicly accessible web application for interactively bridging genomic, proteomic and structural data facilitating the mapping of human variants onto protein structures. A major advance over ...
Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.
(BMJ PUBLISHING GROUP, 2017-10-31)
Objective To determine if circulating concentrations of vitamin D are causally associated with risk of cancer.Design Mendelian randomisation study.Setting Large genetic epidemiology networks (the Genetic Associations and ...
Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.
(OXFORD UNIV PRESS, 2019-04-15)
Anti-Müllerian hormone (AMH) is required for sexual differentiation in the fetus, and in adult females AMH is produced by growing ovarian follicles. Consequently, AMH levels are correlated with ovarian reserve, declining ...
Mendelian randomization provides support for obesity as a risk factor for meningioma.
(NATURE PORTFOLIO, 2019-01-22)
Little is known about the causes of meningioma. Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. We performed an analysis of genetic ...