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Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
(2018-06)
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms.
(2018-11)
Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from ...
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
(NATURE PUBLISHING GROUP, 2015-01-22)
Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ...
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
(OXFORD UNIV PRESS, 2016-06-01)
To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ...
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
(2018-09-13)
Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ...
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study.
(PUBLIC LIBRARY SCIENCE, 2019-01-03)
BACKGROUND: Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as ...
Shared heritability and functional enrichment across six solid cancers.
(NATURE PORTFOLIO, 2019-01-25)
Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ...
Second primary cancers in patients with acute lymphoblastic, chronic lymphocytic and hairy cell leukaemia.
(WILEY, 2019-04-01)
Improvement of survival in lymphocytic leukaemia has been accompanied by the occurrence of second primary cancer (SPCs). Based on Swedish Family Cancer Database, we applied bi-directional analyses in which relative risks ...
Low expression of hexokinase-2 is associated with false-negative FDG-positron emission tomography in multiple myeloma.
(AMER SOC HEMATOLOGY, 2017-07-06)
18F-Fluorodeoxyglucose (FDG)-positron emission tomography (PET) and diffusion-weighted magnetic resonance imaging with background signal suppression (DWIBS) are 2 powerful functional imaging modalities in the evaluation ...
Influence of obesity-related risk factors in the aetiology of glioma.
(SPRINGERNATURE, 2018-04-01)
BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation ...