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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
(OXFORD UNIV PRESS, 2022-08-25)
Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic ...
Genomic landscape of platinum resistant and sensitive testicular cancers.
(NATURE PUBLISHING GROUP, 2020-05-04)
While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ...
Impact of mitochondrial DNA mutations in multiple myeloma.
(NATURE PUBLISHING GROUP, 2020-05-01)
Modifiable pathways for colorectal cancer: a mendelian randomisation analysis.
(ELSEVIER INC, 2020-01-01)
BACKGROUND: Epidemiological studies have linked lifestyle, cardiometabolic, reproductive, developmental, and inflammatory factors to the risk of colorectal cancer. However, which specific factors affect risk and the strength ...
An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics.
(SPRINGERNATURE, 2020-10-14)
Most patients with multiple myeloma (MM) die from progressive disease after relapse. To advance our understanding of MM evolution mechanisms, we performed whole-genome sequencing of 80 IGH-translocated tumour-normal newly ...
Search for multiple myeloma risk factors using Mendelian randomization.
(AMER SOC HEMATOLOGY, 2020-05-26)
The etiology of multiple myeloma (MM) is poorly understood. Summary data from genome-wide association studies (GWASs) of multiple phenotypes can be exploited in a Mendelian randomization (MR) phenome-wide association study ...
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes.
(SPRINGERNATURE, 2021-11-09)
To obtain a comprehensive picture of composite genetic driver events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ...
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
(SPRINGERNATURE, 2021-03-16)
BACKGROUND: Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of developing colorectal cancer (CRC) have been inconsistent. To address possible confounding ...
Relationship between genetically determined telomere length and glioma risk.
(OXFORD UNIV PRESS INC, 2022-02-01)
BACKGROUND: Telomere maintenance is increasingly recognized as being fundamental to glioma oncogenesis with longer leukocyte telomere length (LTL) reported to increase risk of glioma. To gain further insight into the ...
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
(OXFORD UNIV PRESS, 2022-08-23)
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel-Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the ...