Browsing Genetics and Epidemiology by title
Now showing items 471-490 of 510
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The National Cancer Institute Cohort Consortium: An International Pooling Collaboration of 58 Cohorts from 20 Countries.
(AMER ASSOC CANCER RESEARCH, 2018-11-01)Cohort studies have been central to the establishment of the known causes of cancer. To dissect cancer etiology in more detail-for instance, for personalized risk prediction and prevention, assessment of risks of subtypes ... -
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.
(NATURE PORTFOLIO, 2017-02-14)Genome-wide association studies have identified a great number of non-coding risk variants for colorectal cancer (CRC). To date, the majority of these variants have not been functionally studied. Identification of ... -
The NSD1 and EZH2 overgrowth genes, similarities and differences.
(2013-05)NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue ... -
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 ... -
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
(ELSEVIER SCIENCE INC, 2021-06-10)PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant ... -
The Premenopausal Breast Cancer Collaboration: A Pooling Project of Studies Participating in the National Cancer Institute Cohort Consortium.
(AMER ASSOC CANCER RESEARCH, 2017-09-01)Breast cancer is a leading cancer diagnosis among premenopausal women around the world. Unlike rates in postmenopausal women, incidence rates of advanced breast cancer have increased in recent decades for premenopausal ... -
The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer.
(WILEY, 2016-06-01)BACKGROUND: A better assessment of individualized prostate cancer (PrCa) risk is needed to improve screening. The use of the prostate-specific antigen (PSA) level for screening in the general population has limitations and ... -
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.
(2018-01)Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ... -
The Risk of Ovarian Cancer Increases with an Increase in the Lifetime Number of Ovulatory Cycles: An Analysis from the Ovarian Cancer Cohort Consortium (OC3).
(AMER ASSOC CANCER RESEARCH, 2020-03-01)Repeated exposure to the acute proinflammatory environment that follows ovulation at the ovarian surface and distal fallopian tube over a woman's reproductive years may increase ovarian cancer risk. To address this, analyses ... -
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
(F1000 Research Ltd, 2018-01-01)Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ... -
The use of germline genetic profiles to guide prostate cancer targeted screening and cancer care
(Institute of Cancer Research (University Of London), 2020-09-30)The genetic heritability of prostate cancer is contributed to by rarely occurring but high penetrant genetic variants, and moderate to commonly occurring variants conferring lower risks. Genome wide association studies and ... -
Timing of pubertal stages and breast cancer risk: the Breakthrough Generations Study.
(BIOMED CENTRAL LTD, 2014-02-04)INTRODUCTION: Breast development and hormonal changes at puberty might affect breast cancer risk, but epidemiological analyses have focussed largely on age at menarche and not at other pubertal stages. METHODS: We investigated ... -
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
(NATURE PORTFOLIO, 2021-01-04)Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 ... -
Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma.
(AMER ASSOC CANCER RESEARCH, 2019-04-15)Genome-wide association studies (GWAS) have so far identified 25 loci associated with glioma risk, with most showing specificity for either glioblastoma (GBM) or non-GBM tumors. The majority of these GWAS susceptibility ... -
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
(WILEY, 2020-07-01)Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer ... -
Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
(BMC, 2019-08-20)BACKGROUND: While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate ... -
Transcriptome-wide association study reveals candidate causal genes for lung cancer.
(WILEY, 2020-04-01)We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large-scale expression ... -
Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.
(OXFORD UNIV PRESS INC, 2017-08-01)Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. ... -
Two truncating variants in FANCC and breast cancer risk.
(NATURE PUBLISHING GROUP, 2019-08-29)Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk ... -
Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
(ELSEVIER, 2020-08-13)BACKGROUND: Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. OBJECTIVE: To detect new genetic variants associated with PCa, ...