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Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
(IMPACT JOURNALS LLC, 2016-12-06)
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory ...
Length of FMR1 repeat alleles within the normal range does not substantially affect the risk of early menopause.
(OXFORD UNIV PRESS, 2016-10-01)
STUDY QUESTION: Is the length of FMR1 repeat alleles within the normal range associated with the risk of early menopause? SUMMARY ANSWER: The length of repeat alleles within the normal range does not substantially affect ...
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
(SPRINGERNATURE, 2018-07-03)
BACKGROUND: Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ...
Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
(WILEY, 2017-11-01)
Investigating the most likely causal variants identified by fine-mapping analyses may improve the power to detect gene-environment interactions. We assessed the interplay between 70 single nucleotide polymorphisms identified ...
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
(IMPACT JOURNALS LLC, 2017-05-30)
The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ...
Functional variants in DCAF4 associated with lung cancer risk in European populations.
(OXFORD UNIV PRESS, 2017-05-01)
Cullin-RING ubiquitin ligases (CRLs) responsible for substrate specificity of ubiquitination play a key role in cell-cycle control and DNA damage response. In this study, we assessed associations between 16 599 SNPs in 115 ...
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
(PUBLIC LIBRARY SCIENCE, 2016-08-24)
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
A Novel Statistical Method to Diagnose, Quantify and Correct Batch Effects in Genomic Studies.
(NATURE PORTFOLIO, 2017-09-07)
Genome projects now generate large-scale data often produced at various time points by different laboratories using multiple platforms. This increases the potential for batch effects. Currently there are several batch ...
An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk.
(NATURE PUBLISHING GROUP, 2020-08-06)
It remains elusive whether some of the associations identified in genome-wide association studies of prostate cancer (PrCa) may be due to regulatory effects of genetic variants on CpG sites, which may further influence ...
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
(BMJ PUBLISHING GROUP, 2016-12-01)
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ...