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2. Risk of hematological malignancies from CT radiation exposure in children, adolescents and young adults

Author

Bosch de Basea Gomez, Magda, Thierry-Chef, Isabelle, Harbron, Richard, Hauptmann, Michael, Byrnes, Graham, Bernier, Maria-Odile, Le Cornet, Lucian, Dabin, Jérémie, Ferro, Gilles, Istad, Tore S., Jahnen, Andreas, Lee, Choonsik, Maccia, Carlo, Malchair, Françoise, Olerud, Hilde, Simon, Steven L., Figuerola, Jordi, Peiro, Anna, Engels, Hilde, Johansen, Christoffer, Blettner, Maria, Kaijser, Magnus, Kjaerheim, Kristina, Berrington de Gonzalez, Amy, Journy, Neige, Meulepas, Johanna M., Moissonnier, Monika, Nordenskjold, Arvid, Pokora, Roman, Ronckers, Cecile, Schüz, Joachim, Kesminiene, Ausrele, and Cardis, Elisabeth

Published
2023
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4. Educational differences in healthcare use among survivors after breast, prostate, lung, and colon cancer – a SEQUEL cohort study

Author

Levinsen, Anne Katrine Graudal, Kjaer, Trille Kristina, Maltesen, Thomas, Jakobsen, Erik, Gögenur, Ismail, Borre, Michael, Christiansen, Peer, Zachariae, Robert, Laurberg, Søren, Christensen, Peter, Kroman, Niels, Larsen, Signe Benzon, Degett, Thea Helene, Hölmich, Lisbet Rosenkrantz, Brown, Peter de Nully, Johansen, Christoffer, Kjær, Susanne K., Thygesen, Lau Caspar, and Dalton, Susanne Oksbjerg

Published
2023
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5. Phase III study of the European Organisation for Research and Treatment of Cancer Quality of Life cancer survivorship core questionnaire

Author

van Leeuwen, Marieke, Kieffer, Jacobien M., Young, Teresa E., Annunziata, Maria Antonietta, Arndt, Volker, Arraras, Juan Ignacio, Autran, Didier, Hani, Hira Bani, Chakrabarti, Manas, Chinot, Olivier, Cho, Juhee, da Costa Vieira, Rene Aloisio, Darlington, Anne-Sophie, Debruyne, Philip R., Dirven, Linda, Doege, Daniela, Eller, Yannick, Eichler, Martin, Fridriksdottir, Nanna, Gioulbasanis, Ioannis, Hammerlid, Eva, van Hemelrijck, Mieke, Hermann, Silke, Husson, Olga, Jefford, Michael, Johansen, Christoffer, Kjaer, Trille Kristina, Kontogianni, Meropi, Lagergren, Pernilla, Lidington, Emma, Lisy, Karolina, Morag, Ofir, Nordin, Andy, Al Omari, Amal S.H., Pace, Andrea, De Padova, Silvia, Petranovia, Duska, Pinto, Monica, Ramage, John, Rammant, Elke, Reijneveld, Jaap, Serpentini, Samantha, Sodergren, Sam, Vassiliou, Vassilios, Leeuw, Irma Verdonck-de, Vistad, Ingvild, Young, Teresa, Aaronson, Neil K., and van de Poll-Franse, Lonneke V.

Published
2023
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6. Quality of life and symptom burden after rectal cancer surgery: a randomised controlled trial comparing patient-led versus standard follow-up

Author

Hovdenak, Ida, Thaysen, Henriette Vind, Bernstein, Inge Thomsen, Christensen, Peter, Hauberg, Ann, Iversen, Lene Hjerrild, Johansen, Christoffer, Larsen, Susie Lindhardt, Laurberg, Søren, Madsen, Anders Husted, Madsen, Mogens Rørbæk, Rasmussen, Helle Vindfeldt, Thorlacius-Ussing, Ole, and Juul, Therese

Published
2023
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8. Earlier Recurrence Detection Using Routine FDG PET-CT Scans in Surveillance of Stage IIB to IIID Melanoma: A National Cohort Study of 1480 Patients

Author

Helvind, Neel Maria, Weitemeyer, Marie Brinch-Møller, Chakera, Annette Hougaard, Hendel, Helle Westergren, Ellebæk, Eva, Svane, Inge Marie, Kjærskov, Mette Wanscher, Bojesen, Sophie, Skyum, Helle, Petersen, Søren Kjær, Bastholt, Lars, Johansen, Christoffer, Bidstrup, Pernille Envold, and Hölmich, Lisbet Rosenkrantz

Published
2023
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11. Response to the letter to the editor regarding “Mobile phone use and brain tumour risk − COSMOS, a prospective cohort study”

Author

Feychting, Maria, primary, Schüz, Joachim, additional, Toledano, Mireille B., additional, Vermeulen, Roel, additional, Auvinen, Anssi, additional, Harbo Poulsen, Aslak, additional, Deltour, Isabelle, additional, Smith, Rachel B., additional, Heller, Joel, additional, Kromhout, Hans, additional, Huss, Anke, additional, Johansen, Christoffer, additional, Tettamanti, Giorgio, additional, and Elliott, Paul, additional

Published
2024
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13. Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Author

Robinson, Giles, Gudenas, Brian, Smith, Kyle, Forget, Antoine, Kojic, Marija, Garcia-Lopez, Jesus, Hadley, Jennifer, Hamilton, Kayla, Indersie, Emilie, Buchhalter, Ivo, Kerssemakers, Jules, Jäger, Natalie, Sharma, Tanvi, Rausch, Tobias, Kool, Marcel, Sturm, Dominik, Jones, David, Vasilyeva, Aksana, Tatevossian, Ruth, Neale, Geoffrey, Lombard, Bérangère, Loew, Damarys, Nakitandwe, Joy, Rusch, Michael, Bowers, Daniel, Bendel, Anne, Partap, Sonia, Chintagumpala, Murali, Crawford, John, Gottardo, Nicholas, Smith, Amy, Dufour, Christelle, Rutkowski, Stefan, Eggen, Tone, Wesenberg, Finn, Kjaerheim, Kristina, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina, Röösli, Martin, Kuehni, Claudia, Grotzer, Michael, Remke, Marc, Puget, Stéphanie, Pajtler, Kristian, Milde, Till, Witt, Olaf, Ryzhova, Marina, Korshunov, Andrey, Orr, Brent, Ellison, David, Brugieres, Laurence, Lichter, Peter, Nichols, Kim, Gajjar, Amar, Wainwright, Brandon, Ayrault, Olivier, Korbel, Jan, Northcott, Paul, Pfister, Stefan, and Waszak, Sebastian

Subjects
Cerebellar Neoplasms, Child, Female, Germ-Line Mutation, Humans, Male, Medulloblastoma, Pedigree, RNA, Transfer, Transcriptional Elongation Factors
Abstract

Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children1,2, and genetic events that cooperate with known somatic driver events are poorly understood. Pathogenic germline variants in established cancer predisposition genes have been recently identified in 5% of patients with the malignant brain tumour medulloblastoma3. Here, by analysing all protein-coding genes, we identify and replicate rare germline loss-of-function variants across ELP1 in 14% of paediatric patients with the medulloblastoma subgroup Sonic Hedgehog (MBSHH). ELP1 was the most common medulloblastoma predisposition gene and increased the prevalence of genetic predisposition to 40% among paediatric patients with MBSHH. Parent-offspring and pedigree analyses identified two families with a history of paediatric medulloblastoma. ELP1-associated medulloblastomas were restricted to the molecular SHHα subtype4 and characterized by universal biallelic inactivation of ELP1 owing to somatic loss of chromosome arm 9q. Most ELP1-associated medulloblastomas also exhibited somatic alterations in PTCH1, which suggests that germline ELP1 loss-of-function variants predispose individuals to tumour development in combination with constitutive activation of SHH signalling. ELP1 is the largest subunit of the evolutionarily conserved Elongator complex, which catalyses translational elongation through tRNA modifications at the wobble (U34) position5,6. Tumours from patients with ELP1-associated MBSHH were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming, and induction of the unfolded protein response, consistent with loss of protein homeostasis due to Elongator deficiency in model systems7-9. Thus, genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers. These results support investigation of the role of protein homeostasis in other cancer types and potential for therapeutic interference.

Published
2020

14. Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics

Author

Ostrom, Quinn T, Egan, Kathleen M, Nabors, L Burt, Gerke, Travis, Thompson, Reid C, Olson, Jeffrey J, LaRocca, Renato, Chowdhary, Sajeel, Eckel‐Passow, Jeanette E, Armstrong, Georgina, Wiencke, John K, Bernstein, Jonine L, Claus, Elizabeth B, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Houlston, Richard S, Jenkins, Robert B, Wrensch, Margaret R, Melin, Beatrice, Amos, Christopher I, Huse, Jason T, Barnholtz‐Sloan, Jill S, and Bondy, Melissa L

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Neurosciences, Rare Diseases, Brain Disorders, Genetics, Black or African American, Case-Control Studies, Female, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glioma, Hispanic or Latino, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk, White People, glioma, genetic epidemiology, genetic ancestry, genome-wide association study, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have varying proportions of EA, African (AA) and Native American ancestries (NAA). It is unknown if identified GWAS loci or increased EA is associated with increased glioma risk. We assessed whether EA was associated with glioma in African Americans and Hispanics. Data were obtained for 832 cases and 675 controls from the Glioma International Case-Control Study and GliomaSE Case-Control Study previously estimated to have

Published
2020

16. Increased neonatal level of arginase 2 in cases of childhood acute lymphoblastic leukemia implicates immunosuppression in the etiology

Author

Nielsen, Amalie B, Zhou, Mi, de Smith, Adam J, Wang, Rong, McCoy, Lucie, Hansen, Helen, Morimoto, Libby, Grønbæk, Kirsten, Johansen, Christoffer, Kogan, Scott C, Metayer, Catherine, Bracci, Paige M, Ma, Xiaomei, and Wiemels, Joseph L

Subjects
Paediatrics, Biomedical and Clinical Sciences, Arginase, Biomarkers, California, Case-Control Studies, Disease Susceptibility, Female, Humans, Immunocompromised Host, Infant, Infant, Newborn, Male, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Prognosis, Immunology
Published
2019

17. Brain cancer after radiation exposure from CT examinations of children and young adults: results from the EPI-CT cohort study

Author

Hauptmann, Michael, Byrnes, Graham, Cardis, Elisabeth, Bernier, Marie-Odile, Blettner, Maria, Dabin, Jérémie, Engels, Hilde, Istad, Tore S, Johansen, Christoffer, Kaijser, Magnus, Kjaerheim, Kristina, Journy, Neige, Meulepas, Johanna M, Moissonnier, Monika, Ronckers, Cecile, Thierry-Chef, Isabelle, Le Cornet, Lucian, Jahnen, Andreas, Pokora, Roman, Bosch de Basea, Magda, Figuerola, Jordi, Maccia, Carlo, Nordenskjold, Arvid, Harbron, Richard W, Lee, Choonsik, Simon, Steven L, Berrington de Gonzalez, Amy, Schüz, Joachim, and Kesminiene, Ausrele

Published
2023
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23. Nurse-Led Individualized Follow-Up Versus Regular Physician-Led Visits After Early Breast Cancer (MyHealth): A Phase III Randomized, Controlled Trial

Author

Saltbæk, Lena, primary, Bidstrup, Pernille E., additional, Karlsen, Randi V., additional, Høeg, Beverley L., additional, Horsboel, Trine A., additional, Belmonte, Federica, additional, Andersen, Elisabeth A.W., additional, Zoffmann, Vibeke, additional, Friberg, Anne S., additional, Svendsen, Mads N., additional, Christensen, Helle G., additional, Glavicic, Vesna, additional, Nielsen, Dorte L., additional, Dalton, Susanne O., additional, and Johansen, Christoffer, additional

Published
2024
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24. Association of allergic diseases and epilepsy with risk of glioma, meningioma and acoustic neuroma: results from the INTERPHONE international case–control study

Author

Schlehofer, Brigitte, Blettner, Maria, Moissonnier, Monika, Deltour, Isabelle, Giles, Graham G., Armstrong, Bruce, Siemiatycki, Jack, Parent, Marie-Elise, Krewski, Daniel, Johansen, Christoffer, Auvinen, Anssi, Lahkola, Anna, Hours, Martine, Berg-Beckhoff, Gabriele, Sadetzki, Siegal, Lagorio, Susanna, Takebayashi, Toru, Yamaguchi, Naohito, Woodward, Alistair, Cook, Angus, Tynes, Tore, Klaboe, Lars, Feychting, Maria, Feltbower, Richard, Swerdlow, Anthony, Schoemaker, Minouk, Cardis, Elisabeth, and Schüz, Joachim

Published
2022
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26. ASO Visual Abstract: Earlier Recurrence Detection Using Routine FDG PET-CT Scans in Surveillance of Stage IIB to IIID Melanoma—A National Cohort Study of 1480 Patients

Author

Helvind, Neel Maria, Weitemeyer, Marie Brinch-Møller, Chakera, Annette Hougaard, Hendel, Helle Westergren, Ellebæk, Eva, Svane, Inge Marie, Kjærskov, Mette Wanscher, Bojesen, Sophie, Skyum, Helle, Petersen, Søren Kjær, Bastholt, Lars, Johansen, Christoffer, Bidstrup, Pernille Envold, and Hölmich, Lisbet Rosenkrantz

Published
2023
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27. Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age

Author

Ostrom, Quinn T, Kinnersley, Ben, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Eckel‐Passow, Jeanette E, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, consortium, on behalf of the GliomaScan, Houlston, Richard S, Jenkins, Robert B, Wrensch, Margaret R, Melin, Beatrice, Bondy, Melissa L, and Barnholtz‐Sloan, Jill S

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Brain Cancer, Rare Diseases, Neurosciences, Brain Disorders, Genetics, Cancer, Human Genome, Adolescent, Adult, Age Factors, Aged, Brain Neoplasms, Case-Control Studies, Female, Genome-Wide Association Study, Glioblastoma, Humans, Male, Middle Aged, Neoplasm Grading, Polymorphism, Single Nucleotide, Young Adult, glioma, brain tumors, age, GliomaScan consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

Glioblastoma (GBM) is the most common malignant brain tumor in the United States. Incidence of GBM increases with age, and younger age-at-diagnosis is significantly associated with improved prognosis. While the relationship between candidate GBM risk SNPs and age-at-diagnosis has been explored, genome-wide association studies (GWAS) have not previously been stratified by age. Potential age-specific genetic effects were assessed in autosomal SNPs for GBM patients using data from four previous GWAS. Using age distribution tertiles (18-53, 54-64, 65+) datasets were analyzed using age-stratified logistic regression to generate p values, odds ratios (OR), and 95% confidence intervals (95%CI), and then combined using meta-analysis. There were 4,512 total GBM cases, and 10,582 controls used for analysis. Significant associations were detected at two previously identified SNPs in 7p11.2 (rs723527 [p54-63 = 1.50x10-9 , OR54-63 = 1.28, 95%CI54-63 = 1.18-1.39; p64+ = 2.14x10-11 , OR64+ = 1.32, 95%CI64+ = 1.21-1.43] and rs11979158 [p54-63 = 6.13x10-8 , OR54-63 = 1.35, 95%CI54-63 = 1.21-1.50; p64+ = 2.18x10-10 , OR64+ = 1.42, 95%CI64+ = 1.27-1.58]) but only in persons >54. There was also a significant association at the previously identified lower grade glioma (LGG) risk locus at 8q24.21 (rs55705857) in persons ages 18-53 (p18-53 = 9.30 × 10-11 , OR18-53 = 1.76, 95%CI18-53 = 1.49-2.10). Within The Cancer Genome Atlas (TCGA) there was higher prevalence of 'LGG'-like tumor characteristics in GBM samples in those 18-53, with IDH1/2 mutation frequency of 15%, as compared to 2.1% [54-63] and 0.8% [64+] (p = 0.0005). Age-specific differences in cancer susceptibility can provide important clues to etiology. The association of a SNP known to confer risk for IDH1/2 mutant glioma and higher prevalence of IDH1/2 mutation within younger individuals 18-53 suggests that more younger individuals may present initially with 'secondary glioblastoma.'

Published
2018

28. Genome-wide association analysis identifies a meningioma risk locus at 11p15.5

Author

Claus, Elizabeth B, Cornish, Alex J, Broderick, Peter, Schildkraut, Joellen M, Dobbins, Sara E, Holroyd, Amy, Calvocoressi, Lisa, Lu, Lingeng, Hansen, Helen M, Smirnov, Ivan, Walsh, Kyle M, Schramm, Johannes, Hoffmann, Per, Nöthen, Markus M, Jöckel, Karl-Heinz, Swerdlow, Anthony, Larsen, Signe Benzon, Johansen, Christoffer, Simon, Matthias, Bondy, Melissa, Wrensch, Margaret, Houlston, Richard S, and Wiemels, Joseph L

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Brain Cancer, Cancer, Genetics, Human Genome, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Biomarkers, Tumor, Case-Control Studies, Chromosomes, Human, Pair 11, Female, Follow-Up Studies, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Meningeal Neoplasms, Meningioma, Middle Aged, Polymorphism, Single Nucleotide, Prognosis, Risk Factors, Young Adult, genome-wide association study, meningioma, polygenic, risk, single-nucleotide polymorphism, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundMeningiomas 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 a single risk locus for meningioma, at 10p12.31.MethodsTo identify a susceptibility locus for meningioma, we conducted a meta-analysis of 2 GWAS, imputed using a merged reference panel from the 1000 Genomes Project and UK10K data, with validation in 2 independent sample series totaling 2138 cases and 12081 controls.ResultsWe identified a new susceptibility locus for meningioma at 11p15.5 (rs2686876, odds ratio = 1.44, P = 9.86 × 10-9). A number of genes localize to the region of linkage disequilibrium encompassing rs2686876, including RIC8A, which plays a central role in the development of neural crest-derived structures, such as the meninges.ConclusionsThis finding advances our understanding of the genetic basis of meningioma development and provides additional support for a polygenic model of meningioma.

Published
2018

34. Proximity to overhead power lines and childhood leukaemia: an international pooled analysis

Author

Amoon, Aryana T, Crespi, Catherine M, Ahlbom, Anders, Bhatnagar, Megha, Bray, Isabelle, Bunch, Kathryn J, Clavel, Jacqueline, Feychting, Maria, Hémon, Denis, Johansen, Christoffer, Kreis, Christian, Malagoli, Carlotta, Marquant, Fabienne, Pedersen, Camilla, Raaschou-Nielsen, Ole, Röösli, Martin, Spycher, Ben D, Sudan, Madhuri, Swanson, John, Tittarelli, Andrea, Tuck, Deirdre M, Tynes, Tore, Vergara, Ximena, Vinceti, Marco, Wünsch-Filho, Victor, and Kheifets, Leeka

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Child, Child, Preschool, Electric Power Supplies, Environmental Exposure, Female, Humans, Infant, Infant, Newborn, Leukemia, Magnetic Fields, Male, Residence Characteristics, Risk Factors, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundAlthough studies have consistently found an association between childhood leukaemia risk and magnetic fields, the associations between childhood leukaemia and distance to overhead power lines have been inconsistent. We pooled data from multiple studies to assess the association with distance and evaluate whether it is due to magnetic fields or other factors associated with distance from lines.MethodsWe present a pooled analysis combining individual-level data (29,049 cases and 68,231 controls) from 11 record-based studies.ResultsThere was no material association between childhood leukaemia and distance to nearest overhead power line of any voltage. Among children living

Published
2018

35. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Author

Waszak, Sebastian M, Northcott, Paul A, Buchhalter, Ivo, Robinson, Giles W, Sutter, Christian, Groebner, Susanne, Grund, Kerstin B, Brugières, Laurence, Jones, David TW, Pajtler, Kristian W, Morrissy, A Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R, Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A, Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W, Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young-Shin, Zitterbart, Karel, Shringarpure, Suyash S, De La Vega, Francisco M, Bustamante, Carlos D, Ng, Ho-Keung, Perry, Arie, MacDonald, Tobey J, Hernáiz Driever, Pablo, Bendel, Anne E, Bowers, Daniel C, McCowage, Geoffrey, Chintagumpala, Murali M, Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V, Röösli, Martin, Kuehni, Claudia E, Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M, Archer, Tenley C, Duke, Elizabeth, Pomeroy, Scott L, Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V, Milde, Till, Kratz, Christian P, Samuel, David, Zhang, Jinghui, Solomon, David A, Marra, Marco, Eils, Roland, Bartram, Claus R, von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J, Korshunov, Andrey, Taylor, Michael D, Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O, and Pfister, Stefan M

Subjects
Humans, Medulloblastoma, Cerebellar Neoplasms, Genetic Predisposition to Disease, Risk Factors, Retrospective Studies, Prospective Studies, Reproducibility of Results, Predictive Value of Tests, Gene Expression Profiling, Pedigree, DNA Mutational Analysis, DNA Methylation, Heredity, Phenotype, Germ-Line Mutation, Models, Genetic, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Testing, Transcriptome, Biomarkers, Tumor, Progression-Free Survival, Exome Sequencing, Brain Cancer, Genetics, Cancer, Human Genome, Pediatric, Pediatric Cancer, Rare Diseases, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundMedulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines.MethodsIn this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma.FindingsWe included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes.InterpretationGenetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics.FundingGerman Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario.

Published
2018

36. 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.

Author

Ostrom, Quinn T, Kinnersley, Ben, Wrensch, Margaret R, Eckel-Passow, Jeanette E, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Lathia, Justin D, Berens, Michael E, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, GliomaScan consortium, Houlston, Richard S, Jenkins, Robert B, Melin, Beatrice, Bondy, Melissa L, and Barnholtz-Sloan, Jill S

Subjects
GliomaScan consortium, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 8, Humans, Glioma, Brain Neoplasms, Genetic Predisposition to Disease, Logistic Models, Odds Ratio, Risk Factors, Case-Control Studies, Sex Factors, Genotype, Polymorphism, Single Nucleotide, Alleles, Adult, Middle Aged, Female, Male, Genome-Wide Association Study, Neurosciences, Human Genome, Genetics, Prevention, Rare Diseases, Brain Cancer, Cancer, Brain Disorders
Abstract

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 glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis. There were 4,831 male cases, 5,216 male controls, 3,206 female cases and 5,470 female controls. A significant association was detected at rs11979158 (7p11.2) in males only. Association at rs55705857 (8q24.21) was stronger in females than in males. A large region on 3p21.31 was identified with significant association in females only. The identified differences in effect of risk variants do not fully explain the observed incidence difference in glioma by sex.

Published
2018

37. Mendelian randomisation study of the relationship between vitamin D and risk of glioma.

Author

Takahashi, Hannah, Cornish, Alex J, Sud, Amit, Law, Philip J, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Eckel-Passow, Jeanette E, Armstrong, Georgina N, Claus, Elizabeth B, Il'yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S, Olson, Sara H, Bernstein, Jonine L, Lai, Rose K, Schoemaker, Minouk J, Simon, Matthias, Hoffmann, Per, Nöthen, Markus M, Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B, Melin, Beatrice S, Wrensch, Margaret R, Sanson, Marc, Bondy, Melissa L, Turnbull, Clare, and Houlston, Richard S

Subjects
Humans, Glioma, Brain Neoplasms, Genetic Predisposition to Disease, Vitamin D, Polymorphism, Single Nucleotide, Genetic Variation, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide
Abstract

To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach unaffected by biases from confounding. Two-sample MR was undertaken using genome-wide association study data. Single nucleotide polymorphisms (SNPs) associated with 25(OH)D levels were used as instrumental variables (IVs). We calculated MR estimates for the odds ratio (OR) for 25(OH)D levels with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighted (IVW) and maximum likelihood estimation (MLE) methods. A non-significant association between 25(OH)D levels and glioma risk was shown using both the IVW (OR = 1.21, 95% confidence interval [CI] = 0.90-1.62, P = 0.201) and MLE (OR = 1.20, 95% CI = 0.98-1.48, P = 0.083) methods. In an exploratory analysis of tumour subtype, an inverse relationship between 25(OH)D levels and glioblastoma (GBM) risk was identified using the MLE method (OR = 0.62, 95% CI = 0.43-0.89, P = 0.010), but not the IVW method (OR = 0.62, 95% CI = 0.37-1.04, P = 0.070). No statistically significant association was shown between 25(OH)D levels and non-GBM glioma. Our results do not provide evidence for a causal relationship between 25(OH)D levels and all forms of glioma risk. More evidence is required to explore the relationship between 25(OH)D levels and risk of GBM.

Published
2018

39. Rationale and Design of the Hamburg City Health Study

Author

Jagodzinski, Annika, Johansen, Christoffer, Koch-Gromus, Uwe, Aarabi, Ghazal, Adam, Gerhard, Anders, Sven, Augustin, Matthias, der Kellen, Ramona B., Beikler, Thomas, Behrendt, Christian-Alexander, Betz, Christian S., Bokemeyer, Carsten, Borof, Katrin, Briken, Peer, Busch, Chia-Jung, Büchel, Christian, Brassen, Stefanie, Debus, Eike S., Eggers, Larissa, Fiehler, Jens, Gallinat, Jürgen, Gellißen, Simone, Gerloff, Christian, Girdauskas, Evaldas, Gosau, Martin, Graefen, Markus, Härter, Martin, Harth, Volker, Heidemann, Christoph, Heydecke, Guido, Huber, Tobias B., Hussein, Yassin, Kampf, Marvin O., von dem Knesebeck, Olaf, Konnopka, Alexander, König, Hans-Helmut, Kromer, Robert, Kubisch, Christian, Kühn, Simone, Loges, Sonja, Löwe, Bernd, Lund, Gunnar, Meyer, Christian, Nagel, Lina, Nienhaus, Albert, Pantel, Klaus, Petersen, Elina, Püschel, Klaus, Reichenspurner, Hermann, Sauter, Guido, Scherer, Martin, Scherschel, Katharina, Schiffner, Ulrich, Schnabel, Renate B., Schulz, Holger, Smeets, Ralf, Sokalskis, Vladislavs, Spitzer, Martin S., Terschüren, Claudia, Thederan, Imke, Thoma, Tom, Thomalla, Götz, Waschki, Benjamin, Wegscheider, Karl, Wenzel, Jan-Per, Wiese, Susanne, Zyriax, Birgit-Christiane, Zeller, Tanja, and Blankenberg, Stefan

Published
2020

45. Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

Author

Melin, Beatrice S, Barnholtz-Sloan, Jill S, Wrensch, Margaret R, Johansen, Christoffer, Il'yasova, Dora, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Chen, Yanwen, Armstrong, Georgina, Liu, Yanhong, Eckel-Passow, Jeanette E, Decker, Paul A, Labussière, Marianne, Idbaih, Ahmed, Hoang-Xuan, Khe, Di Stefano, Anna-Luisa, Mokhtari, Karima, Delattre, Jean-Yves, Broderick, Peter, Galan, Pilar, Gousias, Konstantinos, Schramm, Johannes, Schoemaker, Minouk J, Fleming, Sarah J, Herms, Stefan, Heilmann, Stefanie, Nöthen, Markus M, Wichmann, Heinz-Erich, Schreiber, Stefan, Swerdlow, Anthony, Lathrop, Mark, Simon, Matthias, Sanson, Marc, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen, Linet, Martha, Wang, Zhaoming, Yeager, Meredith, Wiencke, John K, Hansen, Helen, McCoy, Lucie, Rice, Terri, Kosel, Matthew L, Sicotte, Hugues, Amos, Christopher I, Bernstein, Jonine L, Davis, Faith, Lachance, Dan, Lau, Ching, Merrell, Ryan T, Shildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Scheurer, Michael, Shete, Sanjay, Lai, Rose K, Claus, Elizabeth B, Olson, Sara H, Jenkins, Robert B, Houlston, Richard S, and Bondy, Melissa L

Subjects
Biological Sciences, Genetics, Rare Diseases, Human Genome, Brain Disorders, Cancer, Neurosciences, Prevention, Brain Cancer, Alleles, Brain Neoplasms, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glioblastoma, Glioma, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Quantitative Trait Loci, GliomaScan Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

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 new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10-9, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10-10, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10-8, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10-11, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10-10, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10-9, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10-10, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10-10, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10-9, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10-8, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10-10, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10-11, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10-9, OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.

Published
2017

48. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Author

Machiela, Mitchell J, Zhou, Weiyin, Karlins, Eric, Sampson, Joshua N, Freedman, Neal D, Yang, Qi, Hicks, Belynda, Dagnall, Casey, Hautman, Christopher, Jacobs, Kevin B, Abnet, Christian C, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Arslan, Alan A, Beane-Freeman, Laura E, Berndt, Sonja I, Black, Amanda, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Brinton, Louise A, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Canzian, Federico, Carreon, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Bou, Marta Crous, Cullen, Michael, Davis, Faith G, De Vivo, Immaculata, Ding, Ti, Doherty, Jennifer, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Friedenreich, Christine M, Fuchs, Charles S, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Gaudet, Mia M, Gaziano, J Michael, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goldin, Lynn, Goldstein, Alisa M, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Henriksson, Roger, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hsiung, Chao A, Hu, Nan, Hu, Wei, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Alison P, Klein, Robert, Koh, Woon-Puay, Kolonel, Laurence N, Kooperberg, Charles, Kraft, Peter, Krogh, Vittorio, Kurtz, Robert C, LaCroix, Andrea, Lan, Qing, Landi, Maria Teresa, Le Marchand, Loic, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, and Malats, Nuria

Published
2016

49. The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium

Author

Amirian, E Susan, Armstrong, Georgina N, Zhou, Renke, Lau, Ching C, Claus, Elizabeth B, Barnholtz-Sloan, Jill S, Il'yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S, Jenkins, Robert B, Lachance, Daniel, Olson, Sara H, Bernstein, Jonine L, Merrell, Ryan T, Wrensch, Margaret R, Davis, Faith G, Lai, Rose, Shete, Sanjay, Amos, Christopher I, Scheurer, Michael E, Aldape, Kenneth, Alafuzoff, Irina, Brännström, Thomas, Broholm, Helle, Collins, Peter, Giannini, Caterina, Rosenblum, Marc, Tihan, Tarik, Melin, Beatrice S, and Bondy, Melissa L

Subjects
Epidemiology, Health Sciences, Brain Disorders, Rare Diseases, Human Genome, Clinical Research, Brain Cancer, Neurosciences, Genetics, Cancer, Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Glioma, Humans, Incidence, International Cooperation, Male, Middle Aged, Molecular Epidemiology, Retrospective Studies, Risk Factors, Young Adult, cancer, case-control studies, glioblastoma, glioma, methodology, study profile, Mathematical Sciences, Medical and Health Sciences
Abstract

Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity of tumor subtypes, and retrospective exposure assessment. Here, we briefly describe the Glioma International Case-Control (GICC) Study (recruitment, 2010-2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen collection. To our knowledge, the GICC Study is the largest glioma study to date that includes collection of blood samples, which will allow for genetic analysis and interrogation of gene-environment interactions.

Published
2016

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