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Now showing items 111-120 of 132
Genome-wide homozygosity signature and risk of Hodgkin lymphoma.
(NATURE PORTFOLIO, 2015-09-22)
Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated ...
Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.
(BMC, 2023-01-13)
BACKGROUND: Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze ...
Runs of homozygosity and testicular cancer risk.
(WILEY, 2019-07-01)
BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ...
Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.
(ELSEVIER SCIENCE BV, 2018-09-01)
UNLABELLED: Testicular germ cell tumour (TGCT) is the most common cancer in young men. Multiplex TGCT families have been well reported and analyses of population cancer registries have demonstrated a four- to eightfold ...
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
(NATURE PORTFOLIO, 2018-04-09)
Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform ...
Genetic predisposition to mosaic Y chromosome loss in blood.
(NATURE PORTFOLIO, 2019-11-28)
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, ...
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
(NATURE PORTFOLIO, 2022-11-01)
The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in ...
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
(BMC, 2019-10-29)
BACKGROUND: We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. METHODS: Published and individual participant ...
Disease consequences of higher adiposity uncoupled from its adverse metabolic effects using Mendelian randomisation.
(eLIFE SCIENCES PUBL LTD, 2022-01-25)
BACKGROUND: Some individuals living with obesity may be relatively metabolically healthy, whilst others suffer from multiple conditions that may be linked to adverse metabolic effects or other factors. The extent to which ...
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
(ELSEVIER, 2022-12-01)
BACKGROUND: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional ...