Browsing Genetics and Epidemiology by title
Now showing items 214-233 of 519
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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
(WILEY, 2018-02-01)Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm ... -
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
(NATURE PUBLISHING GROUP, 2016-07-01)Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ... -
Genome-wide association study identifies risk loci for progressive chronic lymphocytic leukemia.
(NATURE RESEARCH, 2021-01-28)Prognostication in patients with chronic lymphocytic leukemia (CLL) is challenging due to heterogeneity in clinical course. We hypothesize that constitutional genetic variation affects disease progression and could aid ... -
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.
(NATURE PORTFOLIO, 2021-10-29)Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorporating a ... -
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 ... -
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
(AMER SOC HEMATOLOGY, 2018-11-08)To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL ... -
Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.
(OXFORD UNIV PRESS, 2019-04-15)Anti-Müllerian hormone (AMH) is required for sexual differentiation in the fetus, and in adult females AMH is produced by growing ovarian follicles. Consequently, AMH levels are correlated with ovarian reserve, declining ... -
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
(NATURE PUBLISHING GROUP, 2017-12-01)Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide ... -
Genome-wide association study of germline variants and breast cancer-specific mortality.
(NATURE PUBLISHING GROUP, 2019-03-19)BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models ... -
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
(NATURE PORTFOLIO, 2017-05-01)Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two ... -
Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.
(NATURE PUBLISHING GROUP, 2017-08-01)Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of ... -
Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population.
(NATURE PORTFOLIO, 2023-05-26)Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung ... -
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 ... -
Genome-wide interaction and pathway-based identification of key regulators in multiple myeloma.
(NATURE PORTFOLIO, 2019-03-04)Inherited genetic susceptibility to multiple myeloma has been investigated in a number of studies. Although 23 individual risk loci have been identified, much of the genetic heritability remains unknown. Here we carried ... -
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
(AMER ASSOC CANCER RESEARCH, 2016-09-01)UNLABELLED: Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining ... -
Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6.
(SPRINGERNATURE, 2022-04-13) -
Genomic evolution shapes prostate cancer disease type.
(ELSEVIER, 2024-03-13)The development of cancer is an evolutionary process involving the sequential acquisition of genetic alterations that disrupt normal biological processes, enabling tumor cells to rapidly proliferate and eventually invade ... -
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 ... -
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ...