Browsing Genetics and Epidemiology by title
Now showing items 198-217 of 519
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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
(AMER SOC CLINICAL ONCOLOGY, 2018-01-01)PURPOSE: To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network ... -
Genetic Variants in Epigenetic Pathways and Risks of Multiple Cancers in the GAME-ON Consortium.
(AMER ASSOC CANCER RESEARCH, 2017-06-01)Background: Epigenetic disturbances are crucial in cancer initiation, potentially with pleiotropic effects, and may be influenced by the genetic background.Methods: In a subsets (ASSET) meta-analytic approach, we investigated ... -
Genetic variants of PTPN2 are associated with lung cancer risk: a re-analysis of eight GWASs in the TRICL-ILCCO consortium.
(NATURE PORTFOLIO, 2017-04-11)The T-cell protein tyrosine phosphatase (TCPTP) pathway consists of signaling events mediated by TCPTP. Mutations and genetic variants of some genes in the TCPTP pathway are associated with lung cancer risk and survival. ... -
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
(BMC, 2014-05-26)INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ... -
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
(MDPI, 2021-10-20)BACKGROUND: Acute pancreatitis (AP) is a serious, mechanistically not entirely resolved side effect of L-asparaginase-containing treatment for acute lymphoblastic leukemia (ALL). To find new candidate variations for AP, ... -
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.
(WILEY, 2022-09-15)Cancer patients treated with capecitabine and oxaliplatin (XELOX) often develop hand-foot syndrome (HFS) or palmar-plantar erythrodysesthesia. Genetic variation in ST6GAL1 is a risk factor for type-2 diabetes (T2D), a ... -
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
(PUBLIC LIBRARY SCIENCE, 2016-08-23)BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is ... -
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study.
(SPRINGERNATURE, 2021-03-30)BACKGROUND: We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through changes ... -
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.
(OXFORD UNIV PRESS INC, 2018-10-09)BACKGROUND: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only ... -
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 ... -
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.
(NATURE PORTFOLIO, 2017-01-23)B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, ... -
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
(NATURE PORTFOLIO, 2019-04-15)Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue ... -
Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.
(PUBLIC LIBRARY SCIENCE, 2021-03-05)Squamous cell carcinomas (SqCC) of the aerodigestive tract have similar etiological risk factors. Although genetic risk variants for individual cancers have been identified, an agnostic, genome-wide search for shared genetic ... -
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.
(SPRINGER, 2016-08-01)Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer ... -
Genome-Wide Association Studies in Glioma.
(AMER ASSOC CANCER RESEARCH, 2018-04-01)Since the first reports in 2009, genome-wide association studies (GWAS) have been successful in identifying germline variants associated with glioma susceptibility. In this review, we describe a chronological history of ... -
Genome-wide association studies of cancer: current insights and future perspectives.
(NATURE PORTFOLIO, 2017-11-01)Genome-wide association studies (GWAS) provide an agnostic approach for investigating the genetic basis of complex diseases. In oncology, GWAS of nearly all common malignancies have been performed, and over 450 genetic ... -
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 ...