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FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment.
(SPRINGER, 2018-08-01)
BACKGROUND: Bio-banked formalin-fixed paraffin-embedded (FFPE) tissues provide an excellent opportunity for translational genomic research. Historically matched blood has not always been collected as a source of germline ...
Familial risks of acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.
(AMER SOC HEMATOLOGY, 2018-08-30)
Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.
(NATURE RESEARCH, 2018-08-13)
Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 ...
Identification of nine new susceptibility loci for endometrial cancer.
(NATURE PUBLISHING GROUP, 2018-08-09)
Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ...
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 ...
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 ...
Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
(NATURE PUBLISHING GROUP, 2017-02-06)
Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed ...
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 ...
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, ...