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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 ...
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 ...
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 ...
Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region.
(ELSEVIER SCIENCE INC, 2019-08-01)
INTRODUCTION: Inherited susceptibility to lung cancer risk in never-smokers is poorly understood. The major reason for this gap in knowledge is that this disease is relatively uncommon (except in Asians), making it difficult ...
Testicular cancer in 2017: Sequencing advances understanding.
(NATURE PORTFOLIO, 2018-02-01)
Telomere structure and maintenance gene variants and risk of five cancer types.
(WILEY, 2016-12-15)
Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded ...
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
(SPRINGER, 2017-01-01)
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants ...
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.
(AMER ASSOC CANCER RESEARCH, 2017-01-01)
BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an ...
Quantifying the Genetic Correlation between Multiple Cancer Types.
(AMER ASSOC CANCER RESEARCH, 2017-09-01)
Background: Many cancers share specific genetic risk factors, including both rare high-penetrance mutations and common SNPs identified through genome-wide association studies (GWAS). However, little is known about the ...
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.
(SPRINGER, 2016-05-01)
PURPOSE: Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. METHODS: We constructed a genetic ...