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1. Publisher Correction: Mosquitoes provide a transmission route between possums and humans for Buruli ulcer in southeastern Australia

Author

Mee, Peter T., Buultjens, Andrew H., Oliver, Jane, Brown, Karen, Crowder, Jodie C., Porter, Jessica L., Hobbs, Emma C., Judd, Louise M., Taiaroa, George, Puttharak, Natsuda, Williamson, Deborah A., Blasdell, Kim R., Tay, Ee Laine, Feldman, Rebecca, Muzari, Mutizwa Odwell, Sanders, Chris, Larsen, Stuart, Crouch, Simon R., Johnson, Paul D. R., Wallace, John R., Price, David J., Hoffmann, Ary A., Gibney, Katherine B., Stinear, Timothy P., and Lynch, Stacey E.

Published
2024
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2. Mosquitoes provide a transmission route between possums and humans for Buruli ulcer in southeastern Australia

Author

Mee, Peter T., Buultjens, Andrew H., Oliver, Jane, Brown, Karen, Crowder, Jodie C., Porter, Jessica L., Hobbs, Emma C., Judd, Louise M., Taiaroa, George, Puttharak, Natsuda, Williamson, Deborah A., Blasdell, Kim R., Tay, Ee Laine, Feldman, Rebecca, Muzari, Mutizwa Odwell, Sanders, Chris, Larsen, Stuart, Crouch, Simon R., Johnson, Paul D. R., Wallace, John R., Price, David J., Hoffmann, Ary A., Gibney, Katherine B., Stinear, Timothy P., and Lynch, Stacey E.

Published
2024
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6. Inflammatory profile of lower risk myelodysplastic syndromes.

Author

Topping, Joanne, Taylor, Adele, Nadat, Fatima, Crouch, Simon, Ibbotson, Alice, Čermák, Jaroslav, Symeonidis, Argiris, Tatic, Aurelia, Langemeijer, Saskia, Hellström‐Lindberg, Eva, Culligan, Dominic, Garelius, Hege Gravdahl, Ashcroft, John, Nga, Emma, Parker, Jane, Kolade, Seye, McDermott, Michael F., De Witte, Theo, Bowen, David, and Smith, Alexandra

Subjects
RED blood cell transfusion, MYELODYSPLASTIC syndromes, NLRP3 protein, INFLAMMASOMES, INTERFERONS
Abstract

Summary: The precise link between inflammation and pathogenesis of myelodysplastic syndrome (MDS) is yet to be fully established. We developed a novel method to measure ASC/NLRP3 protein specks which are specific for the NLRP3 inflammasome only. We combined this with cytokine profiling to characterise various inflammatory markers in a large cohort of patients with lower risk MDS in comparison to healthy controls and patients with defined autoinflammatory disorders (AIDs). The ASC/NLRP3 specks were significantly elevated in MDS patients compared to healthy controls (p < 0.001) and these levels were comparable to those found in patients with AIDs. The distribution of protein specks positive only for ASC was different to ASC/NLRP3 ones suggesting that other ASC‐containing inflammasome complexes might be important in the pathogenesis of MDS. Patients with MDS‐SLD had the lowest levels of interleukin (IL)‐1β, tumour necrosis factor (TNF), IL‐23, IL‐33, interferon (IFN) γ and IFN‐α2, compared to other diagnostic categories. We also found that inflammatory cytokine TNF was positively associated with MDS progression to a more aggressive form of disease and IL‐6 and IL‐1β with time to first red blood cell transfusion. Our study shows that there is value in analysing inflammatory biomarkers in MDS, but their diagnostic and prognostic utility is yet to be fully validated. [ABSTRACT FROM AUTHOR]

Published
2024
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7. A predictive algorithm using clinical and laboratory parameters may assist in ruling out and in diagnosing MDS

Author

Oster, Howard S., Crouch, Simon, Smith, Alexandra, Yu, Ge, Abu Shrkihe, Bander, Baruch, Shoham, Kolomansky, Albert, Ben-Ezra, Jonathan, Naor, Shachar, Fenaux, Pierre, Symeonidis, Argiris, Stauder, Reinhard, Cermak, Jaroslav, Sanz, Guillermo, Hellström-Lindberg, Eva, Malcovati, Luca, Langemeijer, Saskia, Germing, Ulrich, Holm, Mette Skov, Madry, Krzysztof, Guerci-Bresler, Agnes, Culligan, Dominic, Sanhes, Laurence, Mills, Juliet, Kotsianidis, Ioannis, van Marrewijk, Corine, Bowen, David, de Witte, Theo, and Mittelman, Moshe

Published
2021
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8. Genomics-informed responses in the elimination of COVID-19 in Victoria, Australia: an observational, genomic epidemiological study

Author

Lane, Courtney R, Sherry, Norelle L, Porter, Ashleigh F, Duchene, Sebastian, Horan, Kristy, Andersson, Patiyan, Wilmot, Mathilda, Turner, Annabelle, Dougall, Sally, Johnson, Sandra A, Sait, Michelle, Gonçalves da Silva, Anders, Ballard, Susan A, Hoang, Tuyet, Stinear, Timothy P, Caly, Leon, Sintchenko, Vitali, Graham, Rikki, McMahon, Jamie, Smith, David, Leong, Lex EX, Meumann, Ella M, Cooley, Louise, Schwessinger, Benjamin, Rawlinson, William, van Hal, Sebastiaan J, Stephens, Nicola, Catton, Mike, Looker, Clare, Crouch, Simon, Sutton, Brett, Alpren, Charles, Williamson, Deborah A, Seemann, Torsten, and Howden, Benjamin P

Published
2021
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10. Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Author

Machiela, Mitchell J, Lan, Qing, Slager, Susan L, Vermeulen, Roel CH, Teras, Lauren R, Camp, Nicola J, Cerhan, James R, Spinelli, John J, Wang, Sophia S, Nieters, Alexandra, Vijai, Joseph, Yeager, Meredith, Wang, Zhaoming, Ghesquières, Hervé, McKay, James, Conde, Lucia, de Bakker, Paul IW, Cox, David G, Burdett, Laurie, Monnereau, Alain, Flowers, Christopher R, De Roos, Anneclaire J, Brooks-Wilson, Angela R, Giles, Graham G, Melbye, Mads, Gu, Jian, Jackson, Rebecca D, Kane, Eleanor, Purdue, Mark P, Vajdic, Claire M, Albanes, Demetrius, Kelly, Rachel S, Zucca, Mariagrazia, Bertrand, Kimberly A, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Hutchinson, Amy, Zhi, Degui, Habermann, Thomas M, Link, Brian K, Novak, Anne J, Dogan, Ahmet, Asmann, Yan W, Liebow, Mark, Thompson, Carrie A, Ansell, Stephen M, Witzig, Thomas E, Tilly, Hervé, Haioun, Corinne, Molina, Thierry J, Hjalgrim, Henrik, Glimelius, Bengt, Adami, Hans-Olov, Roos, Göran, Bracci, Paige M, Riby, Jacques, Smith, Martyn T, Holly, Elizabeth A, Cozen, Wendy, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Tinker, Lesley F, North, Kari E, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, Lightfoot, Tracy, Crouch, Simon, Smith, Alex, Roman, Eve, Diver, W Ryan, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Villano, Danylo J, Zheng, Tongzhang, Zhang, Yawei, Holford, Theodore R, Turner, Jenny, Southey, Melissa C, Clavel, Jacqueline, Virtamo, Jarmo, Weinstein, Stephanie, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Boeing, Heiner, Tjønneland, Anne, Angelucci, Emanuele, Di Lollo, Simonetta, Rais, Marco, De Vivo, Immaculata, Giovannucci, Edward, Kraft, Peter, and Huang, Jinyan

Subjects
Clinical Research, Rare Diseases, Genetics, Cancer, Hematology, Lymphoma, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Lymphoma, B-Cell, Male, Middle Aged, Prospective Studies, Telomere, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Evidence from a small number of studies suggests that longer telomere length measured in peripheral leukocytes is associated with an increased risk of non-Hodgkin lymphoma (NHL). However, these studies may be biased by reverse causation, confounded by unmeasured environmental exposures and might miss time points for which prospective telomere measurement would best reveal a relationship between telomere length and NHL risk. We performed an analysis of genetically inferred telomere length and NHL risk in a study of 10 102 NHL cases of the four most common B-cell histologic types and 9562 controls using a genetic risk score (GRS) comprising nine telomere length-associated single-nucleotide polymorphisms. This approach uses existing genotype data and estimates telomere length by weighing the number of telomere length-associated variant alleles an individual carries with the published change in kb of telomere length. The analysis of the telomere length GRS resulted in an association between longer telomere length and increased NHL risk [four B-cell histologic types combined; odds ratio (OR) = 1.49, 95% CI 1.22-1.82,P-value = 8.5 × 10(-5)]. Subtype-specific analyses indicated that chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL/SLL) was the principal NHL subtype contributing to this association (OR = 2.60, 95% CI 1.93-3.51,P-value = 4.0 × 10(-10)). Significant interactions were observed across strata of sex for CLL/SLL and marginal zone lymphoma subtypes as well as age for the follicular lymphoma subtype. Our results indicate that a genetic background that favors longer telomere length may increase NHL risk, particularly risk of CLL/SLL, and are consistent with earlier studies relating longer telomere length with increased NHL risk.

Published
2016

11. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Tobacco, Clinical Research, Urologic Diseases, Lung, Genetics, Rare Diseases, Lung Cancer, Human Genome, Hematology, Cancer, Tobacco Smoke and Health, Prevention, Lymphoma, Adult, Aged, Asian People, Bone Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lung Neoplasms, Lymphoma, Large B-Cell, Diffuse, Male, Middle Aged, Neoplasms, Osteosarcoma, Polymorphism, Single Nucleotide, Smoking, Testicular Neoplasms, Tissue Array Analysis, Urinary Bladder Neoplasms, White People, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

12. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Humans, Neoplasms, Osteosarcoma, Bone Neoplasms, Testicular Neoplasms, Lung Neoplasms, Kidney Neoplasms, Genetic Predisposition to Disease, Tissue Array Analysis, Smoking, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Asian Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Urinary Bladder Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Oncology And Carcinogenesis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

13. Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit

Author

Cucco, Francesco, Barrans, Sharon, Sha, Chulin, Clipson, Alexandra, Crouch, Simon, Dobson, Rachel, Chen, Zi, Thompson, Joe Sneath, Care, Matthew A., Cummin, Thomas, Caddy, Josh, Liu, Hongxiang, Robinson, Anne, Schuh, Anna, Fitzgibbon, Jude, Painter, Daniel, Smith, Alexandra, Roman, Eve, Tooze, Reuben, Burton, Catherine, Davies, Andrew J., Westhead, David R., Johnson, Peter W. M., and Du, Ming-Qing

Published
2020
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15. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

Author

Cerhan, James R, Berndt, Sonja I, Vijai, Joseph, Ghesquières, Hervé, McKay, James, Wang, Sophia S, Wang, Zhaoming, Yeager, Meredith, Conde, Lucia, de Bakker, Paul IW, Nieters, Alexandra, Cox, David, Burdett, Laurie, Monnereau, Alain, Flowers, Christopher R, De Roos, Anneclaire J, Brooks-Wilson, Angela R, Lan, Qing, Severi, Gianluca, Melbye, Mads, Gu, Jian, Jackson, Rebecca D, Kane, Eleanor, Teras, Lauren R, Purdue, Mark P, Vajdic, Claire M, Spinelli, John J, Giles, Graham G, Albanes, Demetrius, Kelly, Rachel S, Zucca, Mariagrazia, Bertrand, Kimberly A, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Hutchinson, Amy, Zhi, Degui, Habermann, Thomas M, Link, Brian K, Novak, Anne J, Dogan, Ahmet, Asmann, Yan W, Liebow, Mark, Thompson, Carrie A, Ansell, Stephen M, Witzig, Thomas E, Weiner, George J, Veron, Amelie S, Zelenika, Diana, Tilly, Hervé, Haioun, Corinne, Molina, Thierry Jo, Hjalgrim, Henrik, Glimelius, Bengt, Adami, Hans-Olov, Bracci, Paige M, Riby, Jacques, Smith, Martyn T, Holly, Elizabeth A, Cozen, Wendy, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Tinker, Lesley F, North, Kari E, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, Lightfoot, Tracy, Crouch, Simon, Smith, Alex, Roman, Eve, Diver, W Ryan, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Villano, Danylo J, Zheng, Tongzhang, Zhang, Yawei, Holford, Theodore R, Kricker, Anne, Turner, Jenny, Southey, Melissa C, Clavel, Jacqueline, Virtamo, Jarmo, Weinstein, Stephanie, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Trichopoulos, Dimitrios, Vermeulen, Roel CH, Boeing, Heiner, Tjonneland, Anne, Angelucci, Emanuele, Di Lollo, Simonetta, Rais, Marco, and Birmann, Brenda M

Subjects
Human Genome, Rare Diseases, Genetics, Cancer, Hematology, Lymphoma, Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Computational Biology, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Likelihood Functions, Lymphoma, Large B-Cell, Diffuse, Polymorphism, Single Nucleotide, Quantitative Trait Loci, White People, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 × 10(-13) and 3.63 × 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.

Published
2014

16. The Role of Local Public Health Units in Enhancing Outbreak Response in Residential Aged Care Facilities.

Author

Jalil, Edura, Baptista, Mohana, Crouch, Simon, Stripp, Andrew, and Stuart, Rhonda

Subjects
ELDER care, EPIDEMICS, PUBLIC health, MEDICAL care for older people, RESIDENTIAL care, COVID-19
Abstract

Local public health units offer a place-based response to disease threats impacting populations in its catchment. This place-based response can be further strengthened when local public health units (LPHUs) collaborate with local stakeholders, in particular health services, to protect the more vulnerable population. We describe the approaches taken by a newly formed LPHU in southeast metropolitan Victoria, Australia in COVID-19 outbreak management impacting residential aged care facilities (RACFs) in its catchment, throughout the different phases of the pandemic. These collaborative and flexible approaches ensured that public health actions met the demand and needs of stakeholders. Approaches included the development of prioritization and risks matrices, refining known processes such as outbreak management team membership and redefining roles of the LPHU as capacity of stakeholder evolved. [ABSTRACT FROM AUTHOR]

Published
2024
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20. P731: SURVIVAL IN LOWER-RISK MDS PATIENTS FROM EUMDS REGISTRY BY TWO TRANSPLANT SELECTION CRITERIA - IMPLICATIONS FOR TRANSPLANT DECISION

Author

Savic, Aleksandar, primary, Taylor, Adele, additional, Ilic, Jovanka, additional, Fenaux, Pierre, additional, Symeonidis, Argiris, additional, Cargo, Catherine, additional, Mittelman, Moshe, additional, Stauder, Reinhard, additional, Sanz, Guillermo, additional, Čermák, Jaroslav, additional, Langemeijer, Saskia, additional, Hellström-Lindberg, Eva, additional, Itzykson, Raphael, additional, Guerci-Bresler, Agnes, additional, Culligan, Dominic, additional, Kotsianidis, Ioannis, additional, Panagiotidis, Panagiotis, additional, van Marrewijk, Corine, additional, Smith, Alexandra, additional, Crouch, Simon, additional, de Witte, Theo, additional, and Malcovati, Luca, additional

Published
2023
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22. A transmission chain linking Mycobacterium ulcerans with Aedes notoscriptus mosquitoes, possums and human Buruli ulcer cases in southeastern Australia

Author

Mee, Peter T, primary, Buultjens, Andrew H, additional, Oliver, Jane, additional, Brown, Karen, additional, Crowder, Jodie C, additional, Porter, Jessica L, additional, Hobbs, Emma C, additional, Judd, Louise M, additional, Taiaroa, George, additional, Puttharak, Natsuda, additional, Williamson, Deborah A, additional, Blasdell, Kim R, additional, Tay, Ee Laine, additional, Feldman, Rebecca, additional, Muzari, Mutizwa Odwell, additional, Sanders, Christopher, additional, Larsen, Stuart, additional, Crouch, Simon R, additional, Johnson, Paul P., additional, Wallace, John R, additional, Price, David J, additional, Hoffmann, Ary A, additional, Gibney, Katherine B, additional, Stinear, Timothy P, additional, and Lynch, Stacey E, additional

Published
2023
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29. Erythropoietin stimulation agents significantly improves outcome in lower risk MDS

Author

Garelius, H K G, Smith, Alexandra Gwen, Bagguley, Timothy Charles, Taylor, Adele, Fenaux, Pierre, Bowen, D., Symeonidis, Argyris, MIttelmann, M, Stauder, R, Čermák, Jaroslav, Sanz, Guillermo, Langemeijer, Saskia, Malcovati, Luca, Germing, Ulrich, Itzykson, Raphael, Guerci-Bresler, Agnès, Culligan, Dominic, Kotsianidis, Ioannis, Koinig, Karin A., van Marrewijk, Corine, Crouch, Simon, de Witte, Theo, and Hellstrom-Lindberg, E

Abstract

The EUMDS Registry started in 2008 as a prospective, non-interventional longitudinal study, enrolling newly diagnosed patients with IPSS low or intermediate-1 MDS from 16 European countries and Israel.

Published
2022

33. A comprehensive modular map of Diffuse Large B-cell Lymphoma

Author

Care, Matthew, primary, Painter, Daniel, additional, Barrans, Sharon, additional, Sha, Chulin, additional, Johnson, Peter, additional, Davies, Andrew, additional, Du, Ming-Qing, additional, Crouch, Simon, additional, Smith, Alexandra, additional, Roman, Eve, additional, Burton, Catherine, additional, Doody, Gina M, additional, Westhead, David, additional, Klein, Ulf, additional, Hodson, Daniel, additional, and Tooze, Reuben, additional

Published
2022
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34. Cohort Profile Update : The Haematological Malignancy Research Network (HMRN)’s UK population-based cohorts

Author

Roman, Eve, Kane, Eleanor, Howell, Debra, Lamb, Maxine, Bagguley, Timothy, Crouch, Simon, Painter, Daniel, Patmore, Russell, and Smith, Alexandra

Abstract

Established in 2004, the Haematological Malignancy Research Network is an ongoing population-based UK cohort that is currently tracking 38 000 people diagnosed with a blood cancer or related disorder. Covering a population of ∼4 million people (14 hospitals), each year ∼2500 people enter the cohort (irrespective of age or prognosis) on the day they are diagnosed. All diagnoses are made and coded using the World Health Organization’s latest International Diseases for Oncology classification by haematopathologists at a single fully integrated laboratory. HMRN operates on a legal basis that permits all patients to be tracked through local clinical systems and linked to national administrative databases (hospital episode statistics, cancers and deaths). Patients diagnosed between 2009 and 2015 (n = 18 127) have now been matched (year of birth, sex and residency in the study area) to 10 randomly selected controls from the national population-based National Health Service Central Register. The pseudonymized comparison cohort described in this update was designed to facilitate analyses requiring general-population background rates on co-morbidities and healthcare activity.

Published
2022

39. Cause of death and excess mortality in patients with lower‐risk myelodysplastic syndromes (MDS): A report from the European MDS registry.

Author

Mądry, Krzysztof, Lis, Karol, Fenaux, Pierre, Bowen, David, Symeonidis, Argiris, Mittelman, Moshe, Stauder, Reinhard, Čermák, Jaroslav, Sanz, Guillermo, Hellström‐Lindberg, Eva, Langemeijer, Saskia, Malcovati, Luca, Germing, Ulrich, Holm, Mette Skov, Guerci‐Bresler, Agnes, Culligan, Dominic, Sanhes, Laurence, Kotsianidis, Ioannis, van Marrewijk, Corine, and Crouch, Simon

Subjects
MYELODYSPLASTIC syndromes, CAUSES of death, ACUTE myeloid leukemia, OLDER patients, OVERALL survival
Abstract

Summary: Information on causes of death (CoDs) and the impact of myelodysplastic syndromes (MDS) on survival in patients with lower‐risk MDS (LR‐MDS) is limited. A better understanding of the relationship between disease characteristics, clinical interventions and CoDs may improve outcomes of patients with LR‐MDS. We prospectively collected data on patients with LR‐MDS in the European MDS registry from 2008 to 2019. Clinical, laboratory and CoDs data were obtained. To examine MDS‐specific survival, relative survival (RS) was estimated using national life tables. Of 2396 evaluated subjects, 900 died (median overall survival [OS]: 4.7 years; median follow‐up: 3.5 years). The most common CoDs were acute myeloid leukaemia/MDS (20.1%), infection (17.8%) and cardiovascular disease (CVD; 9.8%). Patients with isolated del(5q) and with red cell transfusion needed during the disease course, had a higher risk of fatal CVD. The 5‐year OS was 47.3% and the 5‐year RS was 59.6%, indicating that most patients died due to their underlying MDS. Older patients (aged >80 years) and the lowest‐risk patients were more likely to die from competing causes. This study shows that MDS and its related complications play crucial role in the outcome of patients with LR‐MDS. [ABSTRACT FROM AUTHOR]

Published
2023
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44. Somatic Mutations and DNA Hypermethylation at Enhancers and Promoters Identify Distinct Subtypes within Lower-Risk Myelodysplastic Syndromes

Author

Rombaut, David, Tekath, Tobias, Sandmann, Sarah, Crouch, Simon, de Graaf, Aniek O., Kosmider, Olivier, Tobiasson, Magnus, Lennartsson, Andreas, Van der Reijden, Bert A., Park, Sophie, D'Aveni, Maud, Slama, Bohrane, Clappier, Emmanuelle, Fenaux, Pierre, Ades, Lionel, van de Loosdrecht, Arjan A., Langemeijer, Saskia MC, Symeonidis, Argiris S., Čermák, Jaroslav, Preudhomme, Claude, Savic, Aleksandar, Germing, Ulrich, Stauder, Reinhard, Bowen, David T., Van Marrewijk, Corine J., Bernard, Elsa, Smith, Alexandra, Painter, Daniel, de Witte, Theo J.M., Hellstrom Lindberg, Eva, Varghese, Julian, Dugas, Martin, Martens, Joost H.A., Malcovati, Luca, Jansen, Joop H., and Fontenay, Michaela

Published
2023
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50. Clinical illness with viable severe acute respiratory coronavirus virus 2 (SARS-CoV-2) virus presenting 72 days after infection in an immunocompromised patient

Author

Hughes, Carly M., primary, Gregory, Gareth P., additional, Pierce, Anna B., additional, Druce, Julian D., additional, Catton, Mike, additional, Chong, Brian, additional, Sherry, Norelle L., additional, Graham, Maryza, additional, Chen, Melissa, additional, Salvaris, Ross, additional, Eise, Nicole, additional, Lee, Jean Y.H., additional, McQuilten, Zoe, additional, Crouch, Simon, additional, Looker, Clare, additional, Korman, Tony M., additional, and Stuart, Rhonda L., additional

Published
2021
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