1,041 results on '"A Kruse, Torben"'
Search Results
2. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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Barnes, Daniel R, Rookus, Matti A, McGuffog, Lesley, Leslie, Goska, Mooij, Thea M, Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M, Blok, Marinus J, Bonanni, Bernardo, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Bradbury, Angela R, Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K, Claes, Kathleen BM, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dorfling, Cecilia M, Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans BL, Hooning, Maartje J, Horvath, Judit, Hu, Chunling, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kast, Karin, Koudijs, Marco, Kruse, Torben A, Kwong, Ava, Laitman, Yael, Lasset, Christine, and Lazaro, Conxi
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Clinical Research ,Cancer ,Ovarian Cancer ,Prevention ,Rare Diseases ,Breast Cancer ,2.1 Biological and endogenous factors ,Aetiology ,BRCA1 Protein ,BRCA2 Protein ,Breast Neoplasms ,Carcinoma ,Ovarian Epithelial ,Female ,Genetic Predisposition to Disease ,Heterozygote ,Humans ,Mutation ,Ovarian Neoplasms ,Prospective Studies ,Retrospective Studies ,Risk Factors ,BRCA1 ,2 ,breast cancer ,ovarian cancer ,PRS ,genetics ,GEMO Study Collaborators ,EMBRACE Collaborators ,kConFab Investigators ,HEBON Investigators ,GENEPSO Investigators ,Consortium of Investigators of Modifiers of BRCA and BRCA2 ,BRCA1/2 ,Genetics ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeWe assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers.MethodsRetrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort.ResultsThe ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10-12) carriers. The associations in the prospective cohort were similar.ConclusionPopulation-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
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- 2020
3. Heterogeneity and tumor evolution reflected in liquid biopsy in metastatic breast cancer patients: a review
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Kavan, Stephanie, Kruse, Torben A., Vogsen, Marianne, Hildebrandt, Malene G., and Thomassen, Mads
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- 2022
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4. Genomic profiling of a randomized trial of interferon-α vs hydroxyurea in MPN reveals mutation-specific responses
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Knudsen, Trine Alma, Skov, Vibe, Stevenson, Kristen, Werner, Lillian, Duke, William, Laurore, Charles, Gibson, Christopher J., Nag, Anwesha, Thorner, Aaron R., Wollison, Bruce, Hansen, Dennis Lund, Ellervik, Christina, El Fassi, Daniel, de Stricker, Karin, Ocias, Lukas Frans, Brabrand, Mette, Bjerrum, Ole Weis, Overgaard, Ulrik Malthe, Frederiksen, Mikael, Kristensen, Thomas Kielsgaard, Kruse, Torben A., Thomassen, Mads, Mourits-Andersen, Torben, Severinsen, Marianne Tang, Stentoft, Jesper, Starklint, Joern, Neuberg, Donna S., Kjaer, Lasse, Larsen, Thomas Stauffer, Hasselbalch, Hans Carl, Lindsley, R. Coleman, and Mullally, Ann
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- 2022
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5. Circulating Tumor DNA in Patients with Renal Cell Carcinoma. A Systematic Review of the Literature
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Geertsen, Louise, Koldby, Kristina Magaard, Thomassen, Mads, Kruse, Torben, and Lund, Lars
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- 2022
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6. The CHIP-clinic as the catalyst of preventive medicine.
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Hasselbalch, Hans Carl, Skov, Vibe, Kjaer, Lasse, Knudsen, Trine Alma, Eickhardt-Dalbøge, Christina Schjellerup, Ellervik, Christina, Cordua, Sabrina, Sørensen, Anders Lindholm, Christensen, Sarah Friis, Kristiansen, Marie Hvelplund, Lindholt, Jes Sanddal, Thomassen, Mads, Kruse, Torben A., Bruun, Niels Eske, Lindholm, Matias Greve, Nielsen, Claus Henrik, Egyed, Miklos, März, Winfried, Larsen, Morten Kranker, and Wienecke, Troels
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- 2024
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7. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
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Rebbeck, Timothy R, Friebel, Tara M, Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I, Solano, Angela R, Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N, Chan, TL, Couch, Fergus J, Goldgar, David E, Kruse, Torben A, Palmero, Edenir Inêz, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J, McGuffog, Lesley, Parsons, Michael T, Leslie, Goska, Aalfs, Cora M, Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmaña, Judith, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M, Blazer, Kathleen R, Blok, Marinus J, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R, Brewer, Carole, Buecher, Bruno, Buys, Saundra S, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique CR, Ganz, Patricia A, Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, and Glendon, Gord
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EMBRACE ,GEMO Study Collaborators ,HEBON ,Humans ,BRCA1 Protein ,BRCA2 Protein ,Family ,Mutation ,Geography ,Internationality ,Databases ,Genetic ,BRCA1 ,BRCA2 ,breast cancer ,ethnicity ,geography ,mutation ,ovarian cancer ,Databases ,Genetic ,Genetics & Heredity ,Genetics ,Clinical Sciences - Abstract
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
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- 2018
8. Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer
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Jørgensen, Nanna, Hviid, Thomas Vauvert F., Nielsen, Lise B., Sønderstrup, Ida M. H., Eriksen, Jens Ole, Ejlertsen, Bent, Gerdes, Anne-Marie, Kruse, Torben A., Thomassen, Mads, Jensen, Maj-Britt, and Lænkholm, Anne-Vibeke
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- 2021
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9. Epithelial ovarian cancer and the use of circulating tumor DNA: A systematic review
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Thusgaard, Christine Fribert, Korsholm, Malene, Koldby, Kristina Magaard, Kruse, Torben A., Thomassen, Mads, and Jochumsen, Kirsten Marie
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- 2021
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10. Increased oxidative stress with substantial dysregulation of genes related to oxidative stress and DNA repair after laparoscopic colon cancer surgery
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Watt, Sara Kehlet, Hasselbalch, Hans Carl, Skov, Vibe, Kjær, Lasse, Thomassen, Mads, Kruse, Torben A., Burton, Mark, Poulsen, Henrik Enghusen, and Gögenur, Ismail
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- 2020
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11. Molecular characterization of sorted malignant B cells from patients clinically identified with mantle cell lymphoma
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Hansen, Marcus Høy, Cédile, Oriane, Blum, Mia Koldby, Hansen, Simone Valentin, Ebbesen, Lene Hyldahl, Bentzen, Hans Herluf Nørgaard, Thomassen, Mads, Kruse, Torben A., Kavan, Stephanie, Kjeldsen, Eigil, Kristensen, Thomas Kielsgaard, Haaber, Jacob, Abildgaard, Niels, and Nyvold, Charlotte Guldborg
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- 2020
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12. Ensemble‐based classification using microRNA expression identifies a breast cancer patient subgroup with an ultralow long‐term risk of metastases.
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Block, Ines, Burton, Mark, Sørensen, Kristina P., Larsen, Martin J., Do, Thi T. N., Bak, Martin, Cold, Søren, Thomassen, Mads, Tan, Qihua, and Kruse, Torben A.
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BREAST cancer ,CANCER patients ,MICRORNA ,CANCER relapse ,BIOMARKERS ,LOGISTIC regression analysis ,MAST cell disease - Abstract
Background: Current clinical markers overestimate the recurrence risk in many lymph node negative (LNN) breast cancer (BC) patients such that a majority of these low‐risk patients unnecessarily receive systemic treatments. We tested if differential microRNA expression in primary tumors allows reliable identification of indolent LNN BC patients to provide an improved classification tool for overtreatment reduction in this patient group. Methods: We collected freshly frozen primary tumors of 80 LNN BC patients with recurrence and 80 recurrence‐free patients (mean follow‐up: 20.9 years). The study comprises solely systemically untreated patients to exclude that administered treatments confound the metastasis status. Samples were pairwise matched for clinical‐pathological characteristics to minimize dependence of current markers. Patients were classified into risk‐subgroups according to the differential microRNA expression of their tumors via classification model building with cross‐validation using seven classification methods and a voting scheme. The methodology was validated using available data of two independent cohorts (n = 123, n = 339). Results: Of the 80 indolent patients (who would all likely receive systemic treatments today) our ultralow‐risk classifier correctly identified 37 while keeping a sensitivity of 100% in the recurrence group. Multivariable logistic regression analysis confirmed independence of voting results from current clinical markers. Application of the method in two validation cohorts confirmed successful classification of ultralow‐risk BC patients with significantly prolonged recurrence‐free survival. Conclusion: Profiles of differential microRNAs expression can identify LNN BC patients who could spare systemic treatments demanded by currently applied classifications. However, further validation studies are required for clinical implementation of the applied methodology. Our study shows that differential microRNA expression analysis has the potential to identify a subgroup of Breast cancer (BC) patients with an extremely low long‐term risk of metastases. The ensemble‐based classification approach developed could form the starting point for a diagnostic tool to avoid unnecessary overtreatment of a significant proportion of BC patients. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Insight into spatial intratumoral genomic evolution in glioblastoma
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Anand, Atul, primary, Petersen, Jeanette Krogh, additional, Andersen, Lars van Brakel, additional, Burton, Mark, additional, Larsen, Martin Jakob, additional, Pedersen, Christian Bonde, additional, Poulsen, Frantz Rom, additional, Grupe, Peter, additional, Kruse, Torben A., additional, Thomassen, Mads, additional, and Kristensen, Bjarne Winther, additional
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- 2023
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14. Whole Blood Gene Expression Profiling in patients undergoing colon cancer surgery identifies differential expression of genes involved in immune surveillance, inflammation and carcinogenesis
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Watt, Sara Kehlet, Hasselbalch, Hans Carl, Skov, Vibe, Kjær, Lasse, Thomassen, Mads, Kruse, Torben A., Burton, Mark, and Gögenur, Ismail
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- 2018
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15. CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3
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Block, Ines, Müller, Carolin, Sdogati, Daniel, Pedersen, Henriette, List, Markus, Jaskot, Aleksandra M., Syse, Silje Damkjær, Lund Hansen, Pernille, Schmidt, Steffen, Christiansen, Helle, Casella, Cinzia, Bering Olsen, Sidsel, Blomstrøm, Monica M., Riedel, Angela, Thomassen, Mads, Kruse, Torben A., Karlskov Hansen, Søren W., Kioschis, Petra, and Mollenhauer, Jan
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- 2019
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16. Tumor-specific genetic aberrations in cell-free DNA of gastroesophageal cancer patients
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Koldby, Kristina Magaard, Mortensen, Michael Bau, Detlefsen, Sönke, Pfeiffer, Per, Thomassen, Mads, and Kruse, Torben A.
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- 2019
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17. Apolipoprotein E Genotype Frequency Patterns in Aged Danes as Revealed by Logistic Regression Models
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Tan, Qihua, Christiansen, Lene, Christensen, Kaare, Kruse, Torben A., and Bathum, Lise
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- 2004
18. Investigating a case of possible field cancerization in oral squamous cell carcinoma by the use of next-generation sequencing
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Tabatabaeifar, Siavosh, Larsen, Martin J., Larsen, Stine R., Kruse, Torben A., Thomassen, Mads, and Sørensen, Jens A.
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- 2017
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19. Exploratory analysis of age and sex dependent DNA methylation patterns on the X-chromosome in whole blood samples
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Li, Shuxia, Lund, Jesper B., Christensen, Kaare, Baumbach, Jan, Mengel-From, Jonas, Kruse, Torben, Li, Weilong, Mohammadnejad, Afsaneh, Pattie, Alison, Marioni, Riccardo E., Deary, Ian J., and Tan, Qihua
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- 2020
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20. Innate signaling within the central nervous system recruits protective neutrophils
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Khorooshi, Reza, Marczynska, Joanna, Dieu, Ruthe Storgaard, Wais, Vian, Hansen, Christian Rønn, Kavan, Stephanie, Thomassen, Mads, Burton, Mark, Kruse, Torben, Webster, Gill A., and Owens, Trevor
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- 2020
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21. Generalized Correlation Coefficient for Non-Parametric Analysis of Microarray Time-Course Data
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Tan Qihua, Thomassen Mads, Burton Mark, Mose Kristian Fredløv, Andersen Klaus Ejner, Hjelmborg Jacob, and Kruse Torben
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time-course ,gene expression microarray ,generalized correlation coefficient ,Biotechnology ,TP248.13-248.65 - Abstract
Modeling complex time-course patterns is a challenging issue in microarray study due to complex gene expression patterns in response to the time-course experiment. We introduce the generalized correlation coefficient and propose a combinatory approach for detecting, testing and clustering the heterogeneous time-course gene expression patterns. Application of the method identified nonlinear time-course patterns in high agreement with parametric analysis. We conclude that the non-parametric nature in the generalized correlation analysis could be an useful and efficient tool for analyzing microarray time-course data and for exploring the complex relationships in the omics data for studying their association with disease and health.
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- 2017
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22. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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23. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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24. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
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Mavaddat, Nasim, primary, Barrowdale, Daniel, primary, Andrulis, Irene L., primary, Domchek, Susan M., primary, Eccles, Diana, primary, Nevanlinna, Heli, primary, Ramus, Susan J., primary, Spurdle, Amanda, primary, Robson, Mark, primary, Sherman, Mark, primary, Mulligan, Anna Marie, primary, Couch, Fergus J., primary, Engel, Christoph, primary, McGuffog, Lesley, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Southey, Melissa C., primary, Terry, Mary Beth, primary, Goldgar, David, primary, O'Malley, Frances, primary, John, Esther M., primary, Janavicius, Ramunas, primary, Tihomirova, Laima, primary, Hansen, Thomas V. O., primary, Nielsen, Finn C., primary, Osorio, Ana, primary, Stavropoulou, Alexandra, primary, Benítez, Javier, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Barile, Monica, primary, Volorio, Sara, primary, Pasini, Barbara, primary, Dolcetti, Riccardo, primary, Putignano, Anna Laura, primary, Ottini, Laura, primary, Radice, Paolo, primary, Hamann, Ute, primary, Rashid, Muhammad U., primary, Hogervorst, Frans B., primary, Kriege, Mieke, primary, van der Luijt, Rob B., primary, Peock, Susan, primary, Frost, Debra, primary, Evans, D. Gareth, primary, Brewer, Carole, primary, Walker, Lisa, primary, Rogers, Mark T., primary, Side, Lucy E., primary, Houghton, Catherine, primary, Weaver, JoEllen, primary, Godwin, Andrew K., primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Meindl, Alfons, primary, Kast, Karin, primary, Arnold, Norbert, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Doroteha, primary, Preisler-Adams, Sabine, primary, Varon-Mateeva, Raymonda, primary, Schönbuchner, Ines, primary, Gevensleben, Heidrun, primary, Stoppa-Lyonnet, Dominique, primary, Belotti, Muriel, primary, Barjhoux, Laure, primary, Isaacs, Claudine, primary, Peshkin, Beth N., primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Cañadas, Carmen, primary, Heikkinen, Tuomas, primary, Heikkilä, Päivi, primary, Aittomäki, Kristiina, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Agnarsson, Bjarni A., primary, Arason, Adalgeir, primary, Barkardottir, Rosa B., primary, Dumont, Martine, primary, Simard, Jacques, primary, Montagna, Marco, primary, Agata, Simona, primary, D'Andrea, Emma, primary, Yan, Max, primary, Fox, Stephen, primary, Rebbeck, Timothy R., primary, Rubinstein, Wendy, primary, Tung, Nadine, primary, Garber, Judy E., primary, Wang, Xianshu, primary, Fredericksen, Zachary, primary, Pankratz, Vernon S., primary, Lindor, Noralane M., primary, Szabo, Csilla, primary, Offit, Kenneth, primary, Sakr, Rita, primary, Gaudet, Mia M., primary, Singer, Christian F., primary, Tea, Muy-Kheng, primary, Rappaport, Christine, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Sokolenko, Anna, primary, Imyanitov, Evgeny, primary, Toland, Amanda Ewart, primary, Senter, Leigha, primary, Sweet, Kevin, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Kruse, Torben, primary, Caligo, Maria, primary, Aretini, Paolo, primary, Rantala, Johanna, primary, von Wachenfeld, Anna, primary, Henriksson, Karin, primary, Steele, Linda, primary, Neuhausen, Susan L., primary, Nussbaum, Robert, primary, Beattie, Mary, primary, Odunsi, Kunle, primary, Sucheston, Lara, primary, Gayther, Simon A., primary, Nathanson, Kate, primary, Gross, Jenny, primary, Walsh, Christine, primary, Karlan, Beth, primary, Chenevix-Trench, Georgia, primary, Easton, Douglas F., primary, and Antoniou, Antonis C., primary
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- 2023
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25. Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness
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Andersen, Lars v.B., Larsen, Martin J., Davies, Helen, Degasperi, Andrea, Nielsen, Henriette Roed, Jensen, Louise A., Kroeldrup, Lone, Gerdes, Anne Marie, Lænkholm, Anne Vibeke, Kruse, Torben A., Nik-Zainal, Serena, Thomassen, Mads, Andersen, Lars v.B., Larsen, Martin J., Davies, Helen, Degasperi, Andrea, Nielsen, Henriette Roed, Jensen, Louise A., Kroeldrup, Lone, Gerdes, Anne Marie, Lænkholm, Anne Vibeke, Kruse, Torben A., Nik-Zainal, Serena, and Thomassen, Mads
- Abstract
Background: Familial breast cancer is in most cases unexplained due to the lack of identifiable pathogenic variants in the BRCA1 and BRCA2 genes. The somatic mutational landscape and in particular the extent of BRCA-like tumour features (BRCAness) in these familial breast cancers where germline BRCA1 or BRCA2 mutations have not been identified is to a large extent unknown. Methods: We performed whole-genome sequencing on matched tumour and normal samples from high-risk non-BRCA1/BRCA2 breast cancer families to understand the germline and somatic mutational landscape and mutational signatures. We measured BRCAness using HRDetect. As a comparator, we also analysed samples from BRCA1 and BRCA2 germline mutation carriers. Results: We noted for non-BRCA1/BRCA2 tumours, only a small proportion displayed high HRDetect scores and were characterized by concomitant promoter hypermethylation or in one case a RAD51D splice variant previously reported as having unknown significance to potentially explain their BRCAness. Another small proportion showed no features of BRCAness but had mutationally active tumours. The remaining tumours lacked features of BRCAness and were mutationally quiescent. Conclusions: A limited fraction of high-risk familial non-BRCA1/BRCA2 breast cancer patients is expected to benefit from treatment strategies against homologue repair deficient cancer cells.
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- 2023
26. Differential expression of checkpoint markers in the normoxic and hypoxic microenvironment of glioblastomas
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Petterson, Stine Asferg, Sørensen, Mia Dahl, Burton, Mark, Thomassen, Mads, Kruse, Torben A., Michaelsen, Signe Regner, Kristensen, Bjarne Winther, Petterson, Stine Asferg, Sørensen, Mia Dahl, Burton, Mark, Thomassen, Mads, Kruse, Torben A., Michaelsen, Signe Regner, and Kristensen, Bjarne Winther
- Abstract
Glioblastoma is the most common primary malignant brain tumor in adults with an overall survival of only 14.6 months. Hypoxia is known to play a role in tumor aggressiveness but the influence of hypoxia on the immune microenvironment is not fully understood. The aim of this study was to investigate the expression of immune-related proteins in normoxic and hypoxic tumor areas by digital spatial profiling. Tissue samples from 10 glioblastomas were stained with a panel of 40 antibodies conjugated to photo-cleavable oligonucleotides. The free oligo-tags from normoxic and hypoxic areas were hybridized to barcodes for digital counting. Differential expression patterns were validated by Ivy Glioblastoma Atlas Project (GAP) data and an independent patient cohort. We found that CD44, Beta-catenin and B7-H3 were upregulated in hypoxia, whereas VISTA, CD56, KI-67, CD68 and CD11c were downregulated. PD-L1 and PD-1 were not affected by hypoxia. Focusing on the checkpoint-related markers CD44, B7-H3 and VISTA, our findings for CD44 and VISTA could be confirmed with Ivy GAP RNA sequencing data. Immunohistochemical staining and digital quantification of CD44, B7-H3 and VISTA in an independent cohort confirmed our findings for all three markers. Additional stainings revealed fewer T cells and high but equal amounts of tumor-associated microglia and macrophages in both hypoxic and normoxic regions. In conclusion, we found that CD44 and B7-H3 were upregulated in areas with hypoxia whereas VISTA was downregulated together with the presence of fewer T cells. This heterogeneous expression should be taken into consideration when developing novel therapeutic strategies.
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- 2023
27. Quality of Life and Symptom Burden of Patients with MPN during Treatment with Hydroxyurea or Pegylated Interferon-alpha2: Results from a Randomized Controlled Trial
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Knudsen, Trine A., Hansen, Dennis Lund, Ocias, Lukas Frans, Bjerrum, Ole Weis, Brabrand, Mette, Christensen, Sarah F., Eickhardt-Dalbøge, Christina Schjellerup S., Ellervik, Christina, El Fassi, Daniel, Frederiksen, Mikael, Kjær, Lasse, Kristensen, Thomas Kielsgaard, Kruse, Torben A., Larsen, Morten Kranker, Mourits-Andersen, Torben, Overgaard, Ulrik Malthe, Severinsen, Marianne Tang, Skov, Vibe, Sørensen, Anders Lindholm, Stentoft, Jesper, Starklint, Jørn, de Stricker, Karin, Thomassen, Mads, Larsen, Thomas S., and Hasselbalch, Hans Carl
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Immunology ,Cell Biology ,Hematology ,Biochemistry - Published
- 2022
28. A functional genetic screen identifies the Mediator complex as essential for SSX2-induced senescence
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Brückmann, Nadine H., Bennedsen, Sofie N., Duijf, Pascal H. G., Terp, Mikkel G., Thomassen, Mads, Larsen, Martin, Pedersen, Christina B., Kruse, Torben, Alcaraz, Nicolas, Ditzel, Henrik J., and Gjerstorff, Morten F.
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- 2019
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29. Retraction Note: Unique RNA signature of different lesion types in the brain white matter in progressive multiple sclerosis
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Elkjaer, Maria L., Frisch, Tobias, Reynolds, Richard, Kacprowski, Tim, Burton, Mark, Kruse, Torben A., Thomassen, Mads, Baumbach, Jan, and Illes, Zsolt
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- 2019
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30. RETRACTED ARTICLE: Unique RNA signature of different lesion types in the brain white matter in progressive multiple sclerosis
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Elkjaer, Maria L., Frisch, Tobias, Reynolds, Richard, Kacprowski, Tim, Burton, Mark, Kruse, Torben A., Thomassen, Mads, Baumbach, Jan, and Illes, Zsolt
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- 2019
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31. Whole blood transcriptional profiling reveals highly deregulated atherosclerosis genes in Philadelphia-chromosome negative myeloproliferative neoplasms.
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Skov, Vibe, Thomassen, Mads, Kjær, Lasse, Larsen, Morten Kranker, Knudsen, Trine A., Ellervik, Christina, Kruse, Torben A., and Hasselbalch, Hans Carl
- Subjects
MYELOFIBROSIS ,MYELOPROLIFERATIVE neoplasms ,GENE expression profiling ,ATHEROSCLEROSIS ,GENETIC regulation ,GENE expression - Abstract
Background: The Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) are associated with a huge comorbidity burden, including an increased risk of cardiovascular diseases. Recently, chronic inflammation has been suggested to be the driving force for clonal evolution and disease progression in MPN but also potentially having an impact upon the development of accelerated (premature) atherosclerosis. Objectives: Since chronic inflammation, atherosclerosis, and atherothrombosis are prevalent in MPNs and we have previously shown oxidative stress genes to be markedly upregulated in MPNs, we hypothesized that genes linked to development of atherosclerosis might be highly deregulated as well. Methods: Using whole blood gene expression profiling in patients with essential thrombocythemia (ET; n = 19), polycythemia vera (PV; n = 41), or primary myelofibrosis (PMF; n = 9), we herein for the first time report aberrant expression of several atherosclerosis genes. Results: Of 84 atherosclerosis genes, 45, 56, and 46 genes were deregulated in patients with ET, PV, or PMF, respectively. Furthermore, BCL2L1, MMP1, PDGFA, PTGS1, and THBS4 were progressively significantly upregulated and BCL2 progressively significantly downregulated from ET over PV to PMF (all FDR <0.05). Conclusions: We have for the first time shown massive deregulation of atherosclerosis genes in MPNs, likely reflecting the inflammatory state in MPNs in association with in vivo activation of leukocytes, platelets, and endothelial cells being deeply involved in the atherosclerotic process. [ABSTRACT FROM AUTHOR]
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- 2023
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32. Publisher Correction: Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations
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Nielsen, Helene Myrtue, Andersen, Christen Lykkegaard, Westman, Maj, Kristensen, Lasse Sommer, Asmar, Fazila, Kruse, Torben Arvid, Thomassen, Mads, Larsen, Thomas Stauffer, Skov, Vibe, Hansen, Lise Lotte, Bjerrum, Ole Weis, Hasselbalch, Hans Carl, Punj, Vasu, and Grønbæk, Kirsten
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- 2018
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33. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
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Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P
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- 2017
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34. Interferon-alpha2 Favorably Impacts Deregulated Atherosclerosis Genes in Polycythemia Vera and Related Neoplasms
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Skov, Vibe, primary, Thomassen, Mads, additional, Kjær, Lasse, additional, Larsen, Morten Kranker, additional, Ellervik, Christina, additional, Knudsen, Trine Alma, additional, Kruse, Torben A., additional, and Hasselbalch, Hans Carl, additional
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- 2022
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35. TMIC-24. SINGLE-CELL ANALYSIS OF TUMOR-ASSOCIATED MICROGLIA AND MACROPHAGES FROM HUMAN GLIOBLASTOMA
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Anand, Atul, primary, Olsen, Rikke Frydendahl Sick, additional, Burton, Mark, additional, Harwood, Dylan Scott Lykke, additional, Poulsen, Frantz Rom, additional, Halle, Bo, additional, Pedersen, Christian Bonde, additional, Kruse, Torben, additional, Thomassen, Mads, additional, and Kristensen, Bjarne Winther, additional
- Published
- 2022
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- View/download PDF
36. Differential expression of checkpoint markers in the normoxic and hypoxic microenvironment of glioblastomas
- Author
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Petterson, Stine Asferg, primary, Sørensen, Mia Dahl, additional, Burton, Mark, additional, Thomassen, Mads, additional, Kruse, Torben A., additional, Michaelsen, Signe Regner, additional, and Kristensen, Bjarne Winther, additional
- Published
- 2022
- Full Text
- View/download PDF
37. Use of next generation sequencing in head and neck squamous cell carcinomas: A review
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Tabatabaeifar, Siavosh, Kruse, Torben A., Thomassen, Mads, Larsen, Martin J., and Sørensen, Jens A.
- Published
- 2014
- Full Text
- View/download PDF
38. Circulating YKL-40 in patients with essential thrombocythemia and polycythemia vera treated with the novel histone deacetylase inhibitor vorinostat
- Author
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Andersen, Christen Lykkegaard, Bjørn, Mads Emil, McMullin, Mary Frances, Harrison, Claire, Samuelsson, Jan, Ejerblad, Elisabeth, Zweegman, Sonja, Fernandes, Savio, Bareford, David, Knapper, Steven, Löfvenberg, Eva, Linder, Olle, Andreasson, Bjørn, Ahlstrand, Erik, Jensen, Morten Krogh, Bjerrum, Ole Weis, Vestergaard, Hanne, Larsen, Herdis, Klausen, Tobias Wirenfeldt, Mourits-Andersen, Torben, Skov, Vibe, Thomassen, Mads, Kruse, Torben, Grønbæk, Kirsten, and Hasselbalch, Hans Carl
- Published
- 2014
- Full Text
- View/download PDF
39. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- Author
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Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hanson, Helen, Hentschel, Julia, Horvath, Judit, KConFab Investigators, HEBON Investigators, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Barnes, Daniel R [0000-0002-3781-7570], Silvestri, Valentina [0000-0003-0712-9379], Leslie, Goska [0000-0001-5756-6222], Dennis, Joe [0000-0003-4591-1214], Yang, Xin [0000-0003-0037-3790], Adlard, Julian [0000-0002-1693-0435], Agnarsson, Bjarni A [0000-0001-7721-9965], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arnold, Norbert [0000-0003-4523-8808], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Barkardottir, Rosa B [0000-0003-0629-2772], Barrowdale, Daniel [0000-0003-1661-3939], Benitez, Javier [0000-0002-0923-7202], Boonen, Susanne E [0000-0002-7824-2080], Bozsik, Aniko [0000-0001-5410-9173], Brennan, Paul [0000-0003-1128-6254], Brunet, Joan [0000-0003-1945-3512], Bucalo, Agostino [0000-0003-3475-1067], Caligo, Maria A [0000-0003-0589-1829], Campbell, Ian [0000-0002-7773-4155], Cassingham, Hayley [0000-0001-9922-2321], Cini, Giulia [0000-0002-8696-8922], Claes, Kathleen BM [0000-0003-0841-7372], Coppa, Anna [0000-0001-9758-5444], Cortesi, Laura [0000-0001-8950-8561], Darder, Esther [0000-0002-7764-1397], de la Hoya, Miguel [0000-0002-8113-1410], de Putter, Robin [0000-0001-9410-8941], Del Valle, Jesús [0000-0003-3607-7045], Domchek, Susan M [0000-0002-5914-7272], Donaldson, Alan [0000-0001-9193-4172], Eason, Jacqueline [0000-0002-8711-8671], Engel, Christoph [0000-0002-7247-282X], Fostira, Florentia [0000-0003-2751-2332], Frone, Megan [0000-0001-8273-8866], Glendon, Gord [0000-0001-8630-6673], Godwin, Andrew K [0000-0002-3987-9580], Greene, Mark H [0000-0003-1852-9239], Hahnen, Eric [0000-0003-2448-7872], Hanson, Helen [0000-0002-3303-8713], Izatt, Louise [0000-0003-1258-4843], Izquierdo, Angel [0000-0003-2004-3246], James, Paul A [0000-0002-4361-4657], John, Esther M [0000-0003-3259-8003], Kroeldrup, Lone [0000-0003-3623-6536], Kruse, Torben A [0000-0002-2460-6483], Lazaro, Conxi [0000-0002-7198-5906], Lesueur, Fabienne [0000-0001-7404-4549], Matrai, Zoltan [0000-0001-8160-7100], Montagna, Marco [0000-0002-4929-2150], Monteiro, Alvaro N [0000-0002-8448-4801], Morrison, Patrick J [0000-0002-2823-1762], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Neuhausen, Susan L [0000-0001-5053-0390], Nevanlinna, Heli [0000-0002-0916-2976], Nguyen-Dumont, Tu [0000-0002-6217-0182], Niederacher, Dieter [0000-0001-6231-9226], Palli, Domenico [0000-0002-5558-2437], Parsons, Michael T [0000-0003-3242-8477], Perez-Segura, Pedro [0000-0001-5049-7199], Peterlongo, Paolo [0000-0001-6951-6855], Pinto, Pedro [0000-0001-6289-5792], Pottinger, Caroline [0000-0003-4233-882X], Radice, Paolo [0000-0001-6298-4111], Robson, Mark [0000-0002-3109-1692], Rump, Andreas [0000-0001-7116-6364], Sharif, Saba [0000-0002-9564-4890], Steele, Linda [0000-0003-3628-2022], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Teixeira, Manuel R [0000-0002-4896-5982], Thull, Darcy L [0000-0001-7999-2804], Tischkowitz, Marc [0000-0002-7880-0628], Toland, Amanda E [0000-0002-0271-1792], Tommasi, Stefania [0000-0002-2157-2978], Toss, Angela [0000-0002-1854-6701], Tripathi, Vishakha [0000-0001-8118-8364], Valentini, Virginia [0000-0003-3393-7185], van Asperen, Christi J [0000-0002-1436-7650], Venturelli, Marta [0000-0003-0658-8004], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Whaite, Anna [0000-0003-4485-0341], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Chenevix-Trench, Georgia [0000-0002-1878-2587], Ottini, Laura [0000-0001-8030-0449], and Apollo - University of Cambridge Repository
- Subjects
Aged, 80 and over ,BRCA2 Protein ,Male ,Heterozygote ,BRCA1 Protein ,Prostatic Neoplasms ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,Risk Assessment ,Risk Factors ,Mutation ,Humans ,Genetic Predisposition to Disease ,skin and connective tissue diseases - Abstract
BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHODS: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
- Published
- 2022
40. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike PG, Janssen, Linda AM, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans MW, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen BM, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and García, Encarna Gómez
- Published
- 2018
- Full Text
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41. Evolutionary Algorithm for Feature Subset Selection in Predicting Tumor Outcomes Using Microarray Data
- Author
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Tan, Qihua, Thomassen, Mads, Jochumsen, Kirsten M., Zhao, Jing Hua, Christensen, Kaare, Kruse, Torben A., Istrail, Sorin, editor, Pevzner, Pavel, editor, Waterman, Michael S., editor, Măndoiu, Ion, editor, Sunderraman, Raj, editor, and Zelikovsky, Alexander, editor
- Published
- 2008
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42. A Bootstrap Correspondence Analysis for Factorial Microarray Experiments with Replications
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Tan, Qihua, Dahlgaard, Jesper, Abdallah, Basem M., Vach, Werner, Kassem, Moustapha, Kruse, Torben A., Istrail, Sorin, editor, Pevzner, Pavel, editor, Waterman, Michael S., editor, Măndoiu, Ion, editor, and Zelikovsky, Alexander, editor
- Published
- 2007
- Full Text
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43. Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
- Author
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Andersen, Lars v. B., Larsen, Martin J., Davies, Helen, Degasperi, Andrea, Nielsen, Henriette Roed, Jensen, Louise A., Kroeldrup, Lone, Gerdes, Anne-Marie, Lænkholm, Anne-Vibeke, Kruse, Torben A., Nik-Zainal, Serena, and Thomassen, Mads
- Subjects
BREAST cancer ,BRCA genes ,NUCLEOTIDE sequencing ,WHOLE genome sequencing - Abstract
Background: Familial breast cancer is in most cases unexplained due to the lack of identifiable pathogenic variants in the BRCA1 and BRCA2 genes. The somatic mutational landscape and in particular the extent of BRCA-like tumour features (BRCAness) in these familial breast cancers where germline BRCA1 or BRCA2 mutations have not been identified is to a large extent unknown. Methods: We performed whole-genome sequencing on matched tumour and normal samples from high-risk non-BRCA1/BRCA2 breast cancer families to understand the germline and somatic mutational landscape and mutational signatures. We measured BRCAness using HRDetect. As a comparator, we also analysed samples from BRCA1 and BRCA2 germline mutation carriers. Results: We noted for non-BRCA1/BRCA2 tumours, only a small proportion displayed high HRDetect scores and were characterized by concomitant promoter hypermethylation or in one case a RAD51D splice variant previously reported as having unknown significance to potentially explain their BRCAness. Another small proportion showed no features of BRCAness but had mutationally active tumours. The remaining tumours lacked features of BRCAness and were mutationally quiescent. Conclusions: A limited fraction of high-risk familial non-BRCA1/BRCA2 breast cancer patients is expected to benefit from treatment strategies against homologue repair deficient cancer cells. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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44. Differential effect of surgical manipulation on gene expression in normal breast tissue and breast tumor tissue
- Author
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Pedersen, Inge Søkilde, Thomassen, Mads, Tan, Qihua, Kruse, Torben, Thorlacius-Ussing, Ole, Garne, Jens Peter, and Krarup, Henrik Bygum
- Published
- 2018
- Full Text
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45. Migrating glioma cells express stem cell markers and give rise to new tumors upon xenografting
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Munthe, Sune, Sørensen, Mia D., Thomassen, Mads, Burton, Mark, Kruse, Torben A., Lathia, Justin D., Poulsen, Frantz Rom, and Kristensen, Bjarne Winther
- Published
- 2016
- Full Text
- View/download PDF
46. Shift of microRNA profile upon orthotopic xenografting of glioblastoma spheroid cultures
- Author
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Halle, Bo, Thomassen, Mads, Venkatesan, Ranga, Kaimal, Vivek, Marcusson, Eric G., Munthe, Sune, Sørensen, Mia D., Aaberg-Jessen, Charlotte, Jensen, Stine S., Meyer, Morten, Kruse, Torben A., Christiansen, Helle, Schmidt, Steffen, Mollenhauer, Jan, Schulz, Mette K., Andersen, Claus, and Kristensen, Bjarne W.
- Published
- 2016
- Full Text
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47. Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations
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Nielsen, Helene Myrtue, Andersen, Christen Lykkegaard, Westman, Maj, Kristensen, Lasse Sommer, Asmar, Fazila, Kruse, Torben Arvid, Thomassen, Mads, Larsen, Thomas Stauffer, Skov, Vibe, Hansen, Lise Lotte, Bjerrum, Ole Weis, Hasselbalch, Hans Carl, Punj, Vasu, and Grønbæk, Kirsten
- Published
- 2017
- Full Text
- View/download PDF
48. Classification of Breast Cancer Subtypes by combining Gene Expression and DNA Methylation Data
- Author
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List Markus, Hauschild Anne-Christin, Tan Qihua, Kruse Torben A., Baumbach Jan, and Batra Richa
- Subjects
Biotechnology ,TP248.13-248.65 - Abstract
Selecting the most promising treatment strategy for breast cancer crucially depends on determining the correct subtype. In recent years, gene expression profiling has been investigated as an alternative to histochemical methods. Since databases like TCGA provide easy and unrestricted access to gene expression data for hundreds of patients, the challenge is to extract a minimal optimal set of genes with good prognostic properties from a large bulk of genes making a moderate contribution to classification. Several studies have successfully applied machine learning algorithms to solve this so-called gene selection problem. However, more diverse data from other OMICS technologies are available, including methylation. We hypothesize that combining methylation and gene expression data could already lead to a largely improved classification model, since the resulting model will reflect differences not only on the transcriptomic, but also on an epigenetic level. We compared so-called random forest derived classification models based on gene expression and methylation data alone, to a model based on the combined features and to a model based on the gold standard PAM50. We obtained bootstrap errors of 10-20% and classification error of 1-50%, depending on breast cancer subtype and model. The gene expression model was clearly superior to the methylation model, which was also reflected in the combined model, which mainly selected features from gene expression data. However, the methylation model was able to identify unique features not considered as relevant by the gene expression model, which might provide deeper insights into breast cancer subtype differentiation on an epigenetic level.
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- 2014
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49. Interferon-alpha2 treatment of patients with polycythemia vera and related neoplasms favorably impacts deregulation of oxidative stress genes and antioxidative defense mechanisms
- Author
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Skov, Vibe, primary, Thomassen, Mads, additional, Kjær, Lasse, additional, Ellervik, Christina, additional, Larsen, Morten Kranker, additional, Knudsen, Trine Alma, additional, Kruse, Torben A., additional, and Hasselbalch, Hans C., additional
- Published
- 2022
- Full Text
- View/download PDF
50. A Signature of Exaggerated Adipose Tissue Dysfunction in Type 2 Diabetes Is Linked to Low Plasma Adiponectin and Increased Transcriptional Activation of Proteasomal Degradation in Muscle
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Sabaratnam, Rugivan, primary, Skov, Vibe, additional, Paulsen, Søren K., additional, Juhl, Stine, additional, Kruse, Rikke, additional, Hansen, Thea, additional, Halkier, Cecilie, additional, Kristensen, Jonas M., additional, Vind, Birgitte F., additional, Richelsen, Bjørn, additional, Knudsen, Steen, additional, Dahlgaard, Jesper, additional, Beck-Nielsen, Henning, additional, Kruse, Torben A., additional, and Højlund, Kurt, additional
- Published
- 2022
- Full Text
- View/download PDF
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