Browsing Genetics and Epidemiology by author "Houlston, Richard"
Now showing items 141-160 of 179
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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Wang, Y; McKay, JD; Rafnar, T; Wang, Z; Timofeeva, MN; et al. (NATURE PUBLISHING GROUP, 2014-09-11)We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ... -
Realistic expectations are key to realising the benefits of polygenic scores.
Sud, A; Horton, RH; Hingorani, AD; Tzoulaki, I; Turnbull, C; et al. (BMJ PUBLISHING GROUP, 2023-02-28)We must not let enthusiasm around polygenic scores allow us to forget other factors that are bigger, more modifiable, and relevant for everyone, argue Amit Sud, Rachel Horton, and colleagues -
Regions of homozygosity as risk factors for multiple myeloma.
Went, M; Sud, A; Li, N; Johnson, DC; Mitchell, JS; et al. (WILEY, 2019-07-01)Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed ... -
Relationship between genetically determined telomere length and glioma risk.
Saunders, CN; Kinnersley, B; Culliford, R; Cornish, AJ; Law, PJ; et al. (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 ... -
Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History.
Sud, A; Thomsen, H; Sundquist, K; Houlston, RS; Hemminki, K (AMER SOC CLINICAL ONCOLOGY, 2017-05-10)Purpose Although advances in Hodgkin lymphoma (HL) treatment have led to improved disease-free survival, this has been accompanied by an increased risk of second cancers. We sought to quantify the second cancer risks and ... -
Risk of second primary cancer following myeloid neoplasia and risk of myeloid neoplasia as second primary cancer: a nationwide, observational follow up study in Sweden.
Chattopadhyay, S; Zheng, G; Sud, A; Yu, H; Sundquist, K; et al. (ELSEVIER SCI LTD, 2018-08-01)BACKGROUND: Although advances in the treatment of myeloid neoplasms have led to improved patient survival, this improvement has been accompanied by an increased risk of second primary cancer (ie, the risk of another cancer ... -
Runs of homozygosity and testicular cancer risk.
Loveday, C; Sud, A; Litchfield, K; Levy, M; Holroyd, A; et al. (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 ... -
Search for AL amyloidosis risk factors using Mendelian randomization.
Saunders, CN; Chattopadhyay, S; Huhn, S; Weinhold, N; Hoffmann, P; et al. (ELSEVIER, 2021-07-13)In amyloid light chain (AL) amyloidosis, amyloid fibrils derived from immunoglobulin light chain are deposited in many organs, interfering with their function. The etiology of AL amyloidosis is poorly understood. Summary ... -
Search for multiple myeloma risk factors using Mendelian randomization.
Went, M; Cornish, AJ; Law, PJ; Kinnersley, B; van Duin, M; et al. (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 ... -
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
Scales, M; Chubb, D; Dobbins, SE; Johnson, DC; Li, N; et al. (IMPACT JOURNALS LLC, 2017-05-30)The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ... -
Searching for causal relationships of glioma: a phenome-wide Mendelian randomisation study.
Saunders, CN; Cornish, AJ; Kinnersley, B; Law, PJ; Houlston, RS; et al. (SPRINGERNATURE, 2021-01-19)BACKGROUND: The aetiology of glioma is poorly understood. Summary data from genome-wide association studies (GWAS) can be used in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to search for glioma ... -
Second cancer risk following Hodgkin lymphoma.
Sud, A; Hemminki, K; Houlston, RS (IMPACT JOURNALS LLC, 2017-10-03) -
Second primary cancers in non-Hodgkin lymphoma: Family history and survival.
Chattopadhyay, S; Zheng, G; Sud, A; Sundquist, K; Sundquist, J; et al. (WILEY, 2020-02)Second primary cancers (SPCs) account for an increasing proportion of all cancer diagnoses and family history of cancer may be a risk factor for SPCs. Using the Swedish Family-Cancer Database on non-Hodgkin lymphoma (NHL), ... -
Second primary cancers in patients with acute lymphoblastic, chronic lymphocytic and hairy cell leukaemia.
Zheng, G; Chattopadhyay, S; Sud, A; Sundquist, K; Sundquist, J; et al. (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 ... -
Sex-specific gene and pathway modeling of inherited glioma risk.
Ostrom, QT; Coleman, W; Huang, W; Rubin, JB; Lathia, JD; et al. (OXFORD UNIV PRESS INC, 2019-01-01)BACKGROUND: To date, genome-wide association studies (GWAS) have identified 25 risk variants for glioma, explaining 30% of heritable risk. Most histologies occur with significantly higher incidence in males, and this ... -
Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.
Ostrom, QT; Kinnersley, B; Wrensch, MR; Eckel-Passow, JE; Armstrong, G; et al. (NATURE PORTFOLIO, 2018-05-09)Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous ... -
Shared heritability and functional enrichment across six solid cancers.
Jiang, X; Finucane, HK; Schumacher, FR; Schmit, SL; Tyrer, JP; et al. (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 ... -
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
Peyre, M; Miyagishima, D; Bielle, F; Chapon, F; Sierant, M; et al. (MASSACHUSETTS MEDICAL SOC, 2021-09-09)BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), ... -
Subclonal TP53 copy number is associated with prognosis in multiple myeloma.
Shah, V; Johnson, DC; Sherborne, AL; Ellis, S; Aldridge, FM; et al. (AMER SOC HEMATOLOGY, 2018-12-06)Multiple myeloma (MM) is a genetically heterogeneous cancer of bone marrow plasma cells with variable outcome. To assess the prognostic relevance of clonal heterogeneity of TP53 copy number, we profiled tumors from 1777 ... -
Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs.
Zhou, F; Wang, Y; Liu, H; Ready, N; Han, Y; et al. (WILEY, 2017-04-01)PURPOSE: mRNA degradation is an important regulatory step for controlling gene expression and cell functions. Genetic abnormalities involved in mRNA degradation genes were found to be associated with cancer risks. Therefore, ...