1,578 results on '"Barnholtz-Sloan, Jill S."'
Search Results
2. National Cancer Institute Collaborative Workshop on Shaping the Landscape of Brain Metastases Research: challenges and recommended priorities
- Author
-
Kim, Michelle M, Mehta, Minesh P, Smart, DeeDee K, Steeg, Patricia S, Hong, Julie A, Espey, Michael G, Prasanna, Pataje G, Crandon, Laura, Hodgdon, Christine, Kozak, Niki, Armstrong, Terri S, Morikawa, Aki, Willmarth, Nicole, Tanner, Kirk, Boire, Adrienne, Gephart, Melanie Hayden, Margolin, Kim A, Hattangadi-Gluth, Jona, Tawbi, Hussein, Trifiletti, Daniel M, Chung, Caroline, Basu-Roy, Upal, Burns, Robyn, Oliva, Isabella C Glitza, Aizer, Ayal A, Anders, Carey K, Davis, Joanne, Ahluwalia, Manmeet S, Chiang, Veronica, Li, Jing, Kotecha, Rupesh, Formenti, Silvia C, Ellingson, Benjamin M, Gondi, Vinai, Sperduto, Paul W, Barnholtz-Sloan, Jill S, Rodon, Jordi, Lee, Eudocia Q, Khasraw, Mustafa, Yeboa, Debra Nana, Brastianos, Priscilla K, Galanis, Evanthia, Coleman, C Norman, and Ahmed, Mansoor M
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Brain Cancer ,Rare Diseases ,Clinical Research ,Cancer ,Brain Disorders ,Good Health and Well Being ,United States ,Humans ,Quality of Life ,National Cancer Institute (U.S.) ,Biomedical Research ,Consensus ,Brain Neoplasms ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Brain metastases are an increasing global public health concern, even as survival rates improve for patients with metastatic disease. Both metastases and the sequelae of their treatment are key determinants of the inter-related priorities of patient survival, function, and quality of life, mandating a multidimensional approach to clinical care and research. At a virtual National Cancer Institute Workshop in September, 2022, key stakeholders convened to define research priorities to address the crucial areas of unmet need for patients with brain metastases to achieve meaningful advances in patient outcomes. This Policy Review outlines existing knowledge gaps, collaborative opportunities, and specific recommendations regarding consensus priorities and future directions in brain metastases research. Achieving major advances in research will require enhanced coordination between the ongoing efforts of individual organisations and consortia. Importantly, the continual and active engagement of patients and patient advocates will be necessary to ensure that the directionality of all efforts reflects what is most meaningful in the context of patient care.
- Published
- 2023
3. Analysis of anemia and iron supplementation among glioblastoma patients reveals sex-biased association between anemia and survival
- Author
-
Shenoy, Ganesh, Slagle-Webb, Becky, Khunsriraksakul, Chachrit, Pandya Shesh, Bhavyata, Luo, Jingqin, Khristov, Vladimir, Smith, Nataliya, Mansouri, Alireza, Zacharia, Brad E., Holder, Sheldon, Lathia, Justin D., Barnholtz-Sloan, Jill S., and Connor, James R.
- Published
- 2024
- Full Text
- View/download PDF
4. Haploinsufficiency of NFKBIA reshapes the epigenome antipodal to the IDH mutation and imparts disease fate in diffuse gliomas
- Author
-
Bredel, Markus, Espinosa, Lluís, Kim, Hyunsoo, Scholtens, Denise M, McElroy, Joseph P, Rajbhandari, Rajani, Meng, Wei, Kollmeyer, Thomas M, Malta, Tathiane M, Quezada, Michael A, Harsh, Griffith R, Lobo-Jarne, Teresa, Solé, Laura, Merati, Aran, Nagaraja, Surya, Nair, Sindhu, White, Jaclyn J, Thudi, Nanda K, Fleming, Jessica L, Webb, Amy, Natsume, Atsushi, Ogawa, Seishi, Weber, Ruthild G, Bertran, Joan, Haque, S Jaharul, Hentschel, Bettina, Miller, C Ryan, Furnari, Frank B, Chan, Timothy A, Grosu, Anca-Ligia, Weller, Michael, Barnholtz-Sloan, Jill S, Monje, Michelle, Noushmehr, Houtan, Jenkins, Robert B, Rogers, C Leland, MacDonald, David R, Pugh, Stephanie L, and Chakravarti, Arnab
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Rare Diseases ,Orphan Drug ,Genetics ,Brain Disorders ,Brain Cancer ,Human Genome ,Child ,Humans ,Brain Neoplasms ,Epigenome ,Glioma ,Haploinsufficiency ,Mutation ,NF-KappaB Inhibitor alpha ,Isocitrate Dehydrogenase ,H3K27M mutation ,IDH mutation ,NFKBIA deletion ,glioma ,haploinsufficiency ,methylome ,nomogram ,tumor suppressor ,Biomedical and clinical sciences - Abstract
Genetic alterations help predict the clinical behavior of diffuse gliomas, but some variability remains uncorrelated. Here, we demonstrate that haploinsufficient deletions of chromatin-bound tumor suppressor NFKB inhibitor alpha (NFKBIA) display distinct patterns of occurrence in relation to other genetic markers and are disproportionately present at recurrence. NFKBIA haploinsufficiency is associated with unfavorable patient outcomes, independent of genetic and clinicopathologic predictors. NFKBIA deletions reshape the DNA and histone methylome antipodal to the IDH mutation and induce a transcriptome landscape partly reminiscent of H3K27M mutant pediatric gliomas. In IDH mutant gliomas, NFKBIA deletions are common in tumors with a clinical course similar to that of IDH wild-type tumors. An externally validated nomogram model for estimating individual patient survival in IDH mutant gliomas confirms that NFKBIA deletions predict comparatively brief survival. Thus, NFKBIA haploinsufficiency aligns with distinct epigenome changes, portends a poor prognosis, and should be incorporated into models predicting the disease fate of diffuse gliomas.
- Published
- 2023
5. Capturing evolving definitions of 12 select rare CNS tumors: a timely report from CBTRUS and NCI-CONNECT
- Author
-
Price, Mackenzie, Neff, Corey, Kruchko, Carol, Barnholtz-Sloan, Jill S., Cordeiro, Brittany B., Penas-Prado, Marta, Ozer, Byram H., Cimino, Patrick J., Gilbert, Mark R., Armstrong, Terri S., and Ostrom, Quinn T.
- Published
- 2023
- Full Text
- View/download PDF
6. Isocitrate dehydrogenase (IDH) mutant gliomas: A Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions
- Author
-
Miller, Julie J, Castro, L Nicolas Gonzalez, McBrayer, Samuel, Weller, Michael, Cloughesy, Timothy, Portnow, Jana, Andronesi, Ovidiu, Barnholtz-Sloan, Jill S, Baumert, Brigitta G, Berger, Mitchell S, Bi, Wenya Linda, Bindra, Ranjit, Cahill, Daniel P, Chang, Susan M, Costello, Joseph F, Horbinski, Craig, Huang, Raymond Y, Jenkins, Robert B, Ligon, Keith L, Mellinghoff, Ingo K, Nabors, L Burt, Platten, Michael, Reardon, David A, Shi, Diana D, Schiff, David, Wick, Wolfgang, Yan, Hai, von Deimling, Andreas, van den Bent, Martin, Kaelin, William G, and Wen, Patrick Y
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Brain Disorders ,Cancer ,Rare Diseases ,Neurosciences ,Brain Cancer ,Good Health and Well Being ,Adult ,Humans ,Isocitrate Dehydrogenase ,Consensus ,Mutation ,Glioma ,Brain Neoplasms ,D-2HG ,glioma ,Isocitrate dehydrogenase ,D-2HG ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Isocitrate dehydrogenase (IDH) mutant gliomas are the most common adult, malignant primary brain tumors diagnosed in patients younger than 50, constituting an important cause of morbidity and mortality. In recent years, there has been significant progress in understanding the molecular pathogenesis and biology of these tumors, sparking multiple efforts to improve their diagnosis and treatment. In this consensus review from the Society for Neuro-Oncology (SNO), the current diagnosis and management of IDH-mutant gliomas will be discussed. In addition, novel therapies, such as targeted molecular therapies and immunotherapies, will be reviewed. Current challenges and future directions for research will be discussed.
- Published
- 2023
7. Federated Learning Enables Big Data for Rare Cancer Boundary Detection
- Author
-
Pati, Sarthak, Baid, Ujjwal, Edwards, Brandon, Sheller, Micah, Wang, Shih-Han, Reina, G Anthony, Foley, Patrick, Gruzdev, Alexey, Karkada, Deepthi, Davatzikos, Christos, Sako, Chiharu, Ghodasara, Satyam, Bilello, Michel, Mohan, Suyash, Vollmuth, Philipp, Brugnara, Gianluca, Preetha, Chandrakanth J, Sahm, Felix, Maier-Hein, Klaus, Zenk, Maximilian, Bendszus, Martin, Wick, Wolfgang, Calabrese, Evan, Rudie, Jeffrey, Villanueva-Meyer, Javier, Cha, Soonmee, Ingalhalikar, Madhura, Jadhav, Manali, Pandey, Umang, Saini, Jitender, Garrett, John, Larson, Matthew, Jeraj, Robert, Currie, Stuart, Frood, Russell, Fatania, Kavi, Huang, Raymond Y, Chang, Ken, Balana, Carmen, Capellades, Jaume, Puig, Josep, Trenkler, Johannes, Pichler, Josef, Necker, Georg, Haunschmidt, Andreas, Meckel, Stephan, Shukla, Gaurav, Liem, Spencer, Alexander, Gregory S, Lombardo, Joseph, Palmer, Joshua D, Flanders, Adam E, Dicker, Adam P, Sair, Haris I, Jones, Craig K, Venkataraman, Archana, Jiang, Meirui, So, Tiffany Y, Chen, Cheng, Heng, Pheng Ann, Dou, Qi, Kozubek, Michal, Lux, Filip, Michálek, Jan, Matula, Petr, Keřkovský, Miloš, Kopřivová, Tereza, Dostál, Marek, Vybíhal, Václav, Vogelbaum, Michael A, Mitchell, J Ross, Farinhas, Joaquim, Maldjian, Joseph A, Yogananda, Chandan Ganesh Bangalore, Pinho, Marco C, Reddy, Divya, Holcomb, James, Wagner, Benjamin C, Ellingson, Benjamin M, Cloughesy, Timothy F, Raymond, Catalina, Oughourlian, Talia, Hagiwara, Akifumi, Wang, Chencai, To, Minh-Son, Bhardwaj, Sargam, Chong, Chee, Agzarian, Marc, Falcão, Alexandre Xavier, Martins, Samuel B, Teixeira, Bernardo C A, Sprenger, Flávia, Menotti, David, Lucio, Diego R, LaMontagne, Pamela, Marcus, Daniel, Wiestler, Benedikt, Kofler, Florian, Ezhov, Ivan, Metz, Marie, Jain, Rajan, Lee, Matthew, Lui, Yvonne W, McKinley, Richard, Slotboom, Johannes, Radojewski, Piotr, Meier, Raphael, Wiest, Roland, Murcia, Derrick, Fu, Eric, Haas, Rourke, Thompson, John, Ormond, David Ryan, Badve, Chaitra, Sloan, Andrew E, Vadmal, Vachan, Waite, Kristin, Colen, Rivka R, Pei, Linmin, Ak, Murat, Srinivasan, Ashok, Bapuraj, J Rajiv, Rao, Arvind, Wang, Nicholas, Yoshiaki, Ota, Moritani, Toshio, Turk, Sevcan, Lee, Joonsang, Prabhudesai, Snehal, Morón, Fanny, Mandel, Jacob, Kamnitsas, Konstantinos, Glocker, Ben, Dixon, Luke V M, Williams, Matthew, Zampakis, Peter, Panagiotopoulos, Vasileios, Tsiganos, Panagiotis, Alexiou, Sotiris, Haliassos, Ilias, Zacharaki, Evangelia I, Moustakas, Konstantinos, Kalogeropoulou, Christina, Kardamakis, Dimitrios M, Choi, Yoon Seong, Lee, Seung-Koo, Chang, Jong Hee, Ahn, Sung Soo, Luo, Bing, Poisson, Laila, Wen, Ning, Tiwari, Pallavi, Verma, Ruchika, Bareja, Rohan, Yadav, Ipsa, Chen, Jonathan, Kumar, Neeraj, Smits, Marion, van der Voort, Sebastian R, Alafandi, Ahmed, Incekara, Fatih, Wijnenga, Maarten MJ, Kapsas, Georgios, Gahrmann, Renske, Schouten, Joost W, Dubbink, Hendrikus J, Vincent, Arnaud JPE, Bent, Martin J van den, French, Pim J, Klein, Stefan, Yuan, Yading, Sharma, Sonam, Tseng, Tzu-Chi, Adabi, Saba, Niclou, Simone P, Keunen, Olivier, Hau, Ann-Christin, Vallières, Martin, Fortin, David, Lepage, Martin, Landman, Bennett, Ramadass, Karthik, Xu, Kaiwen, Chotai, Silky, Chambless, Lola B, Mistry, Akshitkumar, Thompson, Reid C, Gusev, Yuriy, Bhuvaneshwar, Krithika, Sayah, Anousheh, Bencheqroun, Camelia, Belouali, Anas, Madhavan, Subha, Booth, Thomas C, Chelliah, Alysha, Modat, Marc, Shuaib, Haris, Dragos, Carmen, Abayazeed, Aly, Kolodziej, Kenneth, Hill, Michael, Abbassy, Ahmed, Gamal, Shady, Mekhaimar, Mahmoud, Qayati, Mohamed, Reyes, Mauricio, Park, Ji Eun, Yun, Jihye, Kim, Ho Sung, Mahajan, Abhishek, Muzi, Mark, Benson, Sean, Beets-Tan, Regina G H, Teuwen, Jonas, Herrera-Trujillo, Alejandro, Trujillo, Maria, Escobar, William, Abello, Ana, Bernal, Jose, Gómez, Jhon, Choi, Joseph, Baek, Stephen, Kim, Yusung, Ismael, Heba, Allen, Bryan, Buatti, John M, Kotrotsou, Aikaterini, Li, Hongwei, Weiss, Tobias, Weller, Michael, Bink, Andrea, Pouymayou, Bertrand, Shaykh, Hassan F, Saltz, Joel, Prasanna, Prateek, Shrestha, Sampurna, Mani, Kartik M, Payne, David, Kurc, Tahsin, Pelaez, Enrique, Franco-Maldonado, Heydy, Loayza, Francis, Quevedo, Sebastian, Guevara, Pamela, Torche, Esteban, Mendoza, Cristobal, Vera, Franco, Ríos, Elvis, López, Eduardo, Velastin, Sergio A, Ogbole, Godwin, Oyekunle, Dotun, Odafe-Oyibotha, Olubunmi, Osobu, Babatunde, Shu'aibu, Mustapha, Dorcas, Adeleye, Soneye, Mayowa, Dako, Farouk, Simpson, Amber L, Hamghalam, Mohammad, Peoples, Jacob J, Hu, Ricky, Tran, Anh, Cutler, Danielle, Moraes, Fabio Y, Boss, Michael A, Gimpel, James, Veettil, Deepak Kattil, Schmidt, Kendall, Bialecki, Brian, Marella, Sailaja, Price, Cynthia, Cimino, Lisa, Apgar, Charles, Shah, Prashant, Menze, Bjoern, Barnholtz-Sloan, Jill S, Martin, Jason, and Bakas, Spyridon
- Subjects
Computer Science - Machine Learning ,Electrical Engineering and Systems Science - Image and Video Processing - Abstract
Although machine learning (ML) has shown promise in numerous domains, there are concerns about generalizability to out-of-sample data. This is currently addressed by centrally sharing ample, and importantly diverse, data from multiple sites. However, such centralization is challenging to scale (or even not feasible) due to various limitations. Federated ML (FL) provides an alternative to train accurate and generalizable ML models, by only sharing numerical model updates. Here we present findings from the largest FL study to-date, involving data from 71 healthcare institutions across 6 continents, to generate an automatic tumor boundary detector for the rare disease of glioblastoma, utilizing the largest dataset of such patients ever used in the literature (25,256 MRI scans from 6,314 patients). We demonstrate a 33% improvement over a publicly trained model to delineate the surgically targetable tumor, and 23% improvement over the tumor's entire extent. We anticipate our study to: 1) enable more studies in healthcare informed by large and diverse data, ensuring meaningful results for rare diseases and underrepresented populations, 2) facilitate further quantitative analyses for glioblastoma via performance optimization of our consensus model for eventual public release, and 3) demonstrate the effectiveness of FL at such scale and task complexity as a paradigm shift for multi-site collaborations, alleviating the need for data sharing., Comment: federated learning, deep learning, convolutional neural network, segmentation, brain tumor, glioma, glioblastoma, FeTS, BraTS
- Published
- 2022
- Full Text
- View/download PDF
8. Association of partial T2-FLAIR mismatch sign and isocitrate dehydrogenase mutation in WHO grade 4 gliomas: results from the ReSPOND consortium
- Author
-
Lee, Matthew D., Patel, Sohil H., Mohan, Suyash, Akbari, Hamed, Bakas, Spyridon, Nasrallah, MacLean P., Calabrese, Evan, Rudie, Jeffrey, Villanueva-Meyer, Javier, LaMontagne, Pamela, Marcus, Daniel S., Colen, Rivka R., Balana, Carmen, Choi, Yoon Seong, Badve, Chaitra, Barnholtz-Sloan, Jill S., Sloan, Andrew E., Booth, Thomas C., Palmer, Joshua D., Dicker, Adam P., Flanders, Adam E., Shi, Wenyin, Griffith, Brent, Poisson, Laila M., Chakravarti, Arnab, Mahajan, Abhishek, Chang, Susan, Orringer, Daniel, Davatzikos, Christos, and Jain, Rajan
- Published
- 2023
- Full Text
- View/download PDF
9. The intersection of race, ethnicity, and urbanicity on treatment paradigms and clinical outcomes for non-malignant primary tumors of the spine
- Author
-
Bishop, Brandon, Hockenberry, Harrison, Sperber, Jacob, Owolo, Edwin, Baeta, Cesar, Price, Mackenzie, Neff, Corey, Kruchko, Carol, Barnholtz-Sloan, Jill S., Charles, Antionette J., Sciubba, Camryn, Ostrom, Quinn T., Johnson, Eli, and Goodwin, C. Rory
- Published
- 2024
- Full Text
- View/download PDF
10. Aligning the Central Brain Tumor Registry of the United States (CBTRUS) histology groupings with current definitions.
- Author
-
Waite, Kristin A, Cioffi, Gino, Kruchko, Carol, Patil, Nirav, Brat, Daniel J, Bruner, Janet M, McLendon, Roger E, Tihan, Tarik, Ostrom, Quinn T, and Barnholtz-Sloan, Jill S
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Rare Diseases ,Cancer ,Neurosciences ,brain tumors ,epidemiology ,histology ,CBTRUS ,Oncology and carcinogenesis - Abstract
BackgroundThe Central Brain Tumor Registry of the United States (CBTRUS) uses a histology grouping model based on the World Health Organization (WHO) classifications to group records for clinically relevant statistical reporting. Newly identified genetic markers more accurately stratify patients than histology alone and were incorporated into the 2016 update to the WHO Classification.MethodsCBTRUS and consulting neuropathologists reviewed and aligned histology groupings with the 2016 WHO update. "Obsolete" (terms not currently in use) histology nomenclature along with their International Classification of Disease, Oncology 3rd edition (ICD-O-3) codes were identified, some histologies were reclassified to 2016 WHO, and new codes found in 2016 WHO were incorporated. An evaluation of the frequency of histology codes affected in the realignment process, and incidence and survival pre- and post-realignment was conducted.ResultsAfter review, 67 codes were noted as obsolete, 51 codes were reclassified, and 12 new codes were incorporated. Histology groups most affected were mesenchymal tumors and neuronal/mixed neuronal-glial tumors. Reorganization resulted in 2588 (0.65%) cases with grouping reassignment or reporting change, indicating that the 2016 WHO Classification revision has impacted the collection and reporting of primary brain and other CNS tumors.ConclusionThis work demonstrates the need to be responsive to changes in classification and coding in order to ensure the most up-to-date and accurate statistics for brain and CNS tumors. This will require collaboration from all stakeholders within the brain tumor community, so to have the ability to reconcile clinical practices and surveillance requirements.
- Published
- 2022
11. Glioma progression is shaped by genetic evolution and microenvironment interactions
- Author
-
Varn, Frederick S, Johnson, Kevin C, Martinek, Jan, Huse, Jason T, Nasrallah, MacLean P, Wesseling, Pieter, Cooper, Lee AD, Malta, Tathiane M, Wade, Taylor E, Sabedot, Thais S, Brat, Daniel, Gould, Peter V, Wöehrer, Adelheid, Aldape, Kenneth, Ismail, Azzam, Sivajothi, Santhosh K, Barthel, Floris P, Kim, Hoon, Kocakavuk, Emre, Ahmed, Nazia, White, Kieron, Datta, Indrani, Moon, Hyo-Eun, Pollock, Steven, Goldfarb, Christine, Lee, Ga-Hyun, Garofano, Luciano, Anderson, Kevin J, Nehar-Belaid, Djamel, Barnholtz-Sloan, Jill S, Bakas, Spyridon, Byrne, Annette T, D’Angelo, Fulvio, Gan, Hui K, Khasraw, Mustafa, Migliozzi, Simona, Ormond, D Ryan, Paek, Sun Ha, Van Meir, Erwin G, Walenkamp, Annemiek ME, Watts, Colin, Weiss, Tobias, Weller, Michael, Palucka, Karolina, Stead, Lucy F, Poisson, Laila M, Noushmehr, Houtan, Iavarone, Antonio, Verhaak, Roel GW, Consortium, The GLASS, Alfaro, Kristin D, Amin, Samirkumar B, Ashley, David M, Bock, Christoph, Brodbelt, Andrew, Bulsara, Ketan R, and Castro, Ana Valeria
- Subjects
Biological Sciences ,Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Rare Diseases ,Brain Disorders ,Brain Cancer ,Genetics ,Cancer ,Neurosciences ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Brain Neoplasms ,Evolution ,Molecular ,Genes ,p16 ,Glioma ,Humans ,Isocitrate Dehydrogenase ,Mutation ,Neoplasm Recurrence ,Local ,Tumor Microenvironment ,GLASS Consortium ,genomics ,glioblastoma ,glioma ,hypermutation ,macrophages ,microenvironment ,neurons ,single-cell ,spatial imaging ,treatment resistance ,Medical and Health Sciences ,Developmental Biology ,Biological sciences ,Biomedical and clinical sciences - Abstract
The factors driving therapy resistance in diffuse glioma remain poorly understood. To identify treatment-associated cellular and genetic changes, we analyzed RNA and/or DNA sequencing data from the temporally separated tumor pairs of 304 adult patients with isocitrate dehydrogenase (IDH)-wild-type and IDH-mutant glioma. Tumors recurred in distinct manners that were dependent on IDH mutation status and attributable to changes in histological feature composition, somatic alterations, and microenvironment interactions. Hypermutation and acquired CDKN2A deletions were associated with an increase in proliferating neoplastic cells at recurrence in both glioma subtypes, reflecting active tumor growth. IDH-wild-type tumors were more invasive at recurrence, and their neoplastic cells exhibited increased expression of neuronal signaling programs that reflected a possible role for neuronal interactions in promoting glioma progression. Mesenchymal transition was associated with the presence of a myeloid cell state defined by specific ligand-receptor interactions with neoplastic cells. Collectively, these recurrence-associated phenotypes represent potential targets to alter disease progression.
- Published
- 2022
12. Multi-scale signaling and tumor evolution in high-grade gliomas
- Author
-
Liu, Jingxian, Cao, Song, Imbach, Kathleen J., Gritsenko, Marina A., Lih, Tung-Shing M., Kyle, Jennifer E., Yaron-Barir, Tomer M., Binder, Zev A., Li, Yize, Strunilin, Ilya, Wang, Yi-Ting, Tsai, Chia-Feng, Ma, Weiping, Chen, Lijun, Clark, Natalie M., Shinkle, Andrew, Naser Al Deen, Nataly, Caravan, Wagma, Houston, Andrew, Simin, Faria Anjum, Wyczalkowski, Matthew A., Wang, Liang-Bo, Storrs, Erik, Chen, Siqi, Illindala, Ritvik, Li, Yuping D., Jayasinghe, Reyka G., Rykunov, Dmitry, Cottingham, Sandra L., Chu, Rosalie K., Weitz, Karl K., Moore, Ronald J., Sagendorf, Tyler, Petyuk, Vladislav A., Nestor, Michael, Bramer, Lisa M., Stratton, Kelly G., Schepmoes, Athena A., Couvillion, Sneha P., Eder, Josie, Kim, Young-Mo, Gao, Yuqian, Fillmore, Thomas L., Zhao, Rui, Monroe, Matthew E., Southard-Smith, Austin N., Li, Yang E., Jui-Hsien Lu, Rita, Johnson, Jared L., Wiznerowicz, Maciej, Hostetter, Galen, Newton, Chelsea J., Ketchum, Karen A., Thangudu, Ratna R., Barnholtz-Sloan, Jill S., Wang, Pei, Fenyö, David, An, Eunkyung, Thiagarajan, Mathangi, Robles, Ana I., Mani, D.R., Smith, Richard D., Porta-Pardo, Eduard, Cantley, Lewis C., Iavarone, Antonio, Chen, Feng, Mesri, Mehdi, Nasrallah, MacLean P., Zhang, Hui, Resnick, Adam C., Chheda, Milan G., Rodland, Karin D., Liu, Tao, and Ding, Li
- Published
- 2024
- Full Text
- View/download PDF
13. Racial disparities in breast cancer treatment patterns and treatment related adverse events
- Author
-
Stabellini, Nickolas, Cullen, Jennifer, Cao, Lifen, Shanahan, John, Hamerschlak, Nelson, Waite, Kristin, Barnholtz-Sloan, Jill S., and Montero, Alberto J.
- Published
- 2023
- Full Text
- View/download PDF
14. Author Correction: Federated learning enables big data for rare cancer boundary detection
- Author
-
Pati, Sarthak, Baid, Ujjwal, Edwards, Brandon, Sheller, Micah, Wang, Shih-Han, Reina, G. Anthony, Foley, Patrick, Gruzdev, Alexey, Karkada, Deepthi, Davatzikos, Christos, Sako, Chiharu, Ghodasara, Satyam, Bilello, Michel, Mohan, Suyash, Vollmuth, Philipp, Brugnara, Gianluca, Preetha, Chandrakanth J., Sahm, Felix, Maier-Hein, Klaus, Zenk, Maximilian, Bendszus, Martin, Wick, Wolfgang, Calabrese, Evan, Rudie, Jeffrey, Villanueva-Meyer, Javier, Cha, Soonmee, Ingalhalikar, Madhura, Jadhav, Manali, Pandey, Umang, Saini, Jitender, Garrett, John, Larson, Matthew, Jeraj, Robert, Currie, Stuart, Frood, Russell, Fatania, Kavi, Huang, Raymond Y., Chang, Ken, Balaña, Carmen, Capellades, Jaume, Puig, Josep, Trenkler, Johannes, Pichler, Josef, Necker, Georg, Haunschmidt, Andreas, Meckel, Stephan, Shukla, Gaurav, Liem, Spencer, Alexander, Gregory S., Lombardo, Joseph, Palmer, Joshua D., Flanders, Adam E., Dicker, Adam P., Sair, Haris I., Jones, Craig K., Venkataraman, Archana, Jiang, Meirui, So, Tiffany Y., Chen, Cheng, Heng, Pheng Ann, Dou, Qi, Kozubek, Michal, Lux, Filip, Michálek, Jan, Matula, Petr, Keřkovský, Miloš, Kopřivová, Tereza, Dostál, Marek, Vybíhal, Václav, Vogelbaum, Michael A., Mitchell, J. Ross, Farinhas, Joaquim, Maldjian, Joseph A., Yogananda, Chandan Ganesh Bangalore, Pinho, Marco C., Reddy, Divya, Holcomb, James, Wagner, Benjamin C., Ellingson, Benjamin M., Cloughesy, Timothy F., Raymond, Catalina, Oughourlian, Talia, Hagiwara, Akifumi, Wang, Chencai, To, Minh-Son, Bhardwaj, Sargam, Chong, Chee, Agzarian, Marc, Falcão, Alexandre Xavier, Martins, Samuel B., Teixeira, Bernardo C. A., Sprenger, Flávia, Menotti, David, Lucio, Diego R., LaMontagne, Pamela, Marcus, Daniel, Wiestler, Benedikt, Kofler, Florian, Ezhov, Ivan, Metz, Marie, Jain, Rajan, Lee, Matthew, Lui, Yvonne W., McKinley, Richard, Slotboom, Johannes, Radojewski, Piotr, Meier, Raphael, Wiest, Roland, Murcia, Derrick, Fu, Eric, Haas, Rourke, Thompson, John, Ormond, David Ryan, Badve, Chaitra, Sloan, Andrew E., Vadmal, Vachan, Waite, Kristin, Colen, Rivka R., Pei, Linmin, Ak, Murat, Srinivasan, Ashok, Bapuraj, J. Rajiv, Rao, Arvind, Wang, Nicholas, Yoshiaki, Ota, Moritani, Toshio, Turk, Sevcan, Lee, Joonsang, Prabhudesai, Snehal, Morón, Fanny, Mandel, Jacob, Kamnitsas, Konstantinos, Glocker, Ben, Dixon, Luke V. M., Williams, Matthew, Zampakis, Peter, Panagiotopoulos, Vasileios, Tsiganos, Panagiotis, Alexiou, Sotiris, Haliassos, Ilias, Zacharaki, Evangelia I., Moustakas, Konstantinos, Kalogeropoulou, Christina, Kardamakis, Dimitrios M., Choi, Yoon Seong, Lee, Seung-Koo, Chang, Jong Hee, Ahn, Sung Soo, Luo, Bing, Poisson, Laila, Wen, Ning, Tiwari, Pallavi, Verma, Ruchika, Bareja, Rohan, Yadav, Ipsa, Chen, Jonathan, Kumar, Neeraj, Smits, Marion, van der Voort, Sebastian R., Alafandi, Ahmed, Incekara, Fatih, Wijnenga, Maarten M. J., Kapsas, Georgios, Gahrmann, Renske, Schouten, Joost W., Dubbink, Hendrikus J., Vincent, Arnaud J. P. E., van den Bent, Martin J., French, Pim J., Klein, Stefan, Yuan, Yading, Sharma, Sonam, Tseng, Tzu-Chi, Adabi, Saba, Niclou, Simone P., Keunen, Olivier, Hau, Ann-Christin, Vallières, Martin, Fortin, David, Lepage, Martin, Landman, Bennett, Ramadass, Karthik, Xu, Kaiwen, Chotai, Silky, Chambless, Lola B., Mistry, Akshitkumar, Thompson, Reid C., Gusev, Yuriy, Bhuvaneshwar, Krithika, Sayah, Anousheh, Bencheqroun, Camelia, Belouali, Anas, Madhavan, Subha, Booth, Thomas C., Chelliah, Alysha, Modat, Marc, Shuaib, Haris, Dragos, Carmen, Abayazeed, Aly, Kolodziej, Kenneth, Hill, Michael, Abbassy, Ahmed, Gamal, Shady, Mekhaimar, Mahmoud, Qayati, Mohamed, Reyes, Mauricio, Park, Ji Eun, Yun, Jihye, Kim, Ho Sung, Mahajan, Abhishek, Muzi, Mark, Benson, Sean, Beets-Tan, Regina G. H., Teuwen, Jonas, Herrera-Trujillo, Alejandro, Trujillo, Maria, Escobar, William, Abello, Ana, Bernal, Jose, Gómez, Jhon, Choi, Joseph, Baek, Stephen, Kim, Yusung, Ismael, Heba, Allen, Bryan, Buatti, John M., Kotrotsou, Aikaterini, Li, Hongwei, Weiss, Tobias, Weller, Michael, Bink, Andrea, Pouymayou, Bertrand, Shaykh, Hassan F., Saltz, Joel, Prasanna, Prateek, Shrestha, Sampurna, Mani, Kartik M., Payne, David, Kurc, Tahsin, Pelaez, Enrique, Franco-Maldonado, Heydy, Loayza, Francis, Quevedo, Sebastian, Guevara, Pamela, Torche, Esteban, Mendoza, Cristobal, Vera, Franco, Ríos, Elvis, López, Eduardo, Velastin, Sergio A., Ogbole, Godwin, Soneye, Mayowa, Oyekunle, Dotun, Odafe-Oyibotha, Olubunmi, Osobu, Babatunde, Shu’aibu, Mustapha, Dorcas, Adeleye, Dako, Farouk, Simpson, Amber L., Hamghalam, Mohammad, Peoples, Jacob J., Hu, Ricky, Tran, Anh, Cutler, Danielle, Moraes, Fabio Y., Boss, Michael A., Gimpel, James, Veettil, Deepak Kattil, Schmidt, Kendall, Bialecki, Brian, Marella, Sailaja, Price, Cynthia, Cimino, Lisa, Apgar, Charles, Shah, Prashant, Menze, Bjoern, Barnholtz-Sloan, Jill S., Martin, Jason, and Bakas, Spyridon
- Published
- 2023
- Full Text
- View/download PDF
15. Association Between Urbanicity and Outcomes Among Patients with Spinal Cord Ependymomas in the United States
- Author
-
Sperber, Jacob, Owolo, Edwin, Abu-Bonsrah, Nancy, Neff, Corey, Baeta, Cesar, Sun, Chuxuan, Dalton, Tara, Sykes, David, Bishop, Brandon L., Kruchko, Carol, Barnholtz-Sloan, Jill S., Walsh, Kyle M., Larry Lo, Sheng-Fu, Sciubba, Daniel, Ostrom, Quinn T., and Goodwin, C. Rory
- Published
- 2024
- Full Text
- View/download PDF
16. Mortality trends in primary malignant brain and central nervous system tumors vary by histopathology, age, race, and sex
- Author
-
Thierheimer, Marisa, Cioffi, Gino, Waite, Kristin A., Kruchko, Carol, Ostrom, Quinn T., and Barnholtz-Sloan, Jill S.
- Published
- 2023
- Full Text
- View/download PDF
17. Novel 3D magnetic resonance fingerprinting radiomics in adult brain tumors: a feasibility study
- Author
-
Tippareddy, Charit, Onyewadume, Louisa, Sloan, Andrew E., Wang, Gi-Ming, Patil, Nirav T., Hu, Siyuan, Barnholtz-Sloan, Jill S., Boyacıoğlu, Rasim, Gulani, Vikas, Sunshine, Jeffrey, Griswold, Mark, Ma, Dan, and Badve, Chaitra
- Published
- 2023
- Full Text
- View/download PDF
18. Associations between urbanicity and spinal cord astrocytoma management and outcomes
- Author
-
Sykes, David A.W., Waguia, Romaric, Abu-Bonsrah, Nancy, Price, Mackenzie, Dalton, Tara, Sperber, Jacob, Owolo, Edwin, Hockenberry, Harrison, Bishop, Brandon, Kruchko, Carol, Barnholtz-Sloan, Jill S., Erickson, Melissa, Ostrom, Quinn T., and Goodwin, C. Rory
- Published
- 2023
- Full Text
- View/download PDF
19. A Systematic Framework to Rapidly Obtain Data on Patients with Cancer and COVID-19:CCC19 Governance, Protocol, and Quality Assurance
- Author
-
Abidi, Maheen, Aboulafia, David M, Accordino, Melissa K, Acoba, Jared D, Ahluwalia, Manmeet S, Ahmad, Syed A, Ajmera, Archana, Alimohamed, Saif I, Altman, Jessica, Angevine, Anne H, Bakouny, Ziad, Bar, Michael H, Bardia, Aditya, Barnholtz-Sloan, Jill S, Barrow McCollough, Briana, Bashir, Babar, Batist, Gerald, Bekaii-Saab, Tanios S, Berg, Stephanie, Bernicker, Eric H, Bhutani, Divaya, Bilen, Mehmet A, Bindal, Poorva, Bishnoi, Rohit, Blau, Sibel, Bohachek, Pamela, Boland, Genevieve, Bonnen, Mark, Bouchard, Gabrielle, Bouganim, Nathaniel, Bowles, Daniel W, Busser, Fiona J, Butt, Omar, Cabal, Angelo, Cabalona, Wilhelmina D, Cabebe, Elwyn C, Caimi, Paolo, Campian, Jian L, Carducci, Theresa M, Chen, James L, Cheng, Alex, Chism, David D, Choueiri, Toni K, Clark, Melanie J, Clement, Jessica M, Connors, Jean M, Cook, Erin, Curran, Catherine R, Daher, Ahmad, Dailey, Mark E, Davis, Elizabeth J, Dawsey, Scott J, Deeken, John F, Del Prete, Salvatore A, Demetri, George D, Desai, Aakash, Doroshow, Deborah B, Durbin, Eric B, Egan, Pamela C, Elias, Rawad, Elkrief, Arielle, Elms, Destry J, Elshoury, Amro, Faller, Bryan, Farmakiotis, Dimitrios, Fecher, Leslie A, Feldman, Lawrence E, Ferrario, Cristiano, Fiala, Mark A, Flora, Daniel B, French, Benjamin, Friese, Christopher R, Fu, Julie C, Gadgeel, Shirish M, Gainor, Justin, Galsky, Matthew D, Gantt, Gerald, Garcia, Jorge A, Gartrell, Benjamin A, Gatti-Mays, Margaret E, Gill, David M, Gillaspie, Erin A, Giordano, Antonio, Glace, Mary Grace, Glover, Michael J, Goel, Sanjay, Graber, Jerome J, Griffiths, Elizabeth A, Grivas, Petros, Grover, Punita, Gulati, Anthony P, Gulati, Shuchi, Gupta, Shilpa, Gurley, Michael, Hafez, Navid, Halabi, Susan, Halfdanarson, Thorvardur R, Halmos, Balazs, Hausrath, Daniel J, and Hawley, Jessica E
- Subjects
Biochemistry and Cell Biology ,Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Biological Sciences ,Clinical Research ,Cancer ,COVID-19 ,COVID-19 Testing ,Data Accuracy ,Electronic Health Records ,Humans ,Neoplasms ,Quality Improvement ,SARS-CoV-2 ,COVID-19 and Cancer Consortium. Electronic address: jeremy.warner@vumc.org ,COVID-19 and Cancer Consortium ,Neurosciences ,Oncology & Carcinogenesis ,Biochemistry and cell biology ,Oncology and carcinogenesis - Abstract
When the COVID-19 pandemic began, formal frameworks to collect data about affected patients were lacking. The COVID-19 and Cancer Consortium (CCC19) was formed to collect granular data on patients with cancer and COVID-19 at scale and as rapidly as possible. CCC19 has grown from five initial institutions to 125 institutions with >400 collaborators. More than 5,000 cases with complete baseline data have been accrued. Future directions include increased electronic health record integration for direct data ingestion, expansion to additional domestic and international sites, more intentional patient involvement, and granular analyses of still-unanswered questions related to cancer subtypes and treatments.
- Published
- 2020
20. European genetic ancestry associated with risk of childhood ependymoma
- Author
-
Zhang, Chenan, Ostrom, Quinn T, Hansen, Helen M, Gonzalez-Maya, Julio, Hu, Donglei, Ziv, Elad, Morimoto, Libby, de Smith, Adam J, Muskens, Ivo S, Kline, Cassie N, Vaksman, Zalman, Hakonarson, Hakon, Diskin, Sharon J, Kruchko, Carol, Barnholtz-Sloan, Jill S, Ramaswamy, Vijay, Ali-Osman, Francis, Bondy, Melissa L, Taylor, Michael D, Metayer, Catherine, Wiemels, Joseph L, and Walsh, Kyle M
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Clinical Research ,Cancer ,Pediatric ,American Indian or Alaska Native ,Human Genome ,Genetics ,Brain Disorders ,Black or African American ,Child ,Ependymoma ,Female ,Hispanic or Latino ,Humans ,Male ,United States ,White People ,disparities ,ependymoma ,ethnicity ,genetic ancestry ,pediatric cancer ,race ,Neurosciences ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundEpendymoma is a histologically defined central nervous system tumor most commonly occurring in childhood. Population-level incidence differences by race/ethnicity are observed, with individuals of European ancestry at highest risk. We aimed to determine whether extent of European genetic ancestry is associated with ependymoma risk in US populations.MethodsIn a multi-ethnic study of Californian children (327 cases, 1970 controls), we estimated the proportions of European, African, and Native American ancestry among recently admixed Hispanic and African American subjects and estimated European admixture among non-Hispanic white subjects using genome-wide data. We tested whether genome-wide ancestry differences were associated with ependymoma risk and performed admixture mapping to identify associations with local ancestry. We also evaluated race/ethnicity-stratified ependymoma incidence data from the Central Brain Tumor Registry of the United States (CBTRUS).ResultsCBTRUS data revealed that African American and Native American children have 33% and 36%, respectively, reduced incidence of ependymoma compared with non-Hispanic whites. In genetic analyses, a 20% increase in European ancestry was associated with a 1.31-fold higher odds of ependymoma among self-reported Hispanics and African Americans (95% CI: 1.08-1.59, Pmeta = 6.7 × 10-3). Additionally, eastern European ancestral substructure was associated with increased ependymoma risk in non-Hispanic whites (P = 0.030) and in Hispanics (P = 0.043). Admixture mapping revealed a peak at 20p13 associated with increased local European ancestry, and targeted fine-mapping identified a lead variant at rs6039499 near RSPO4 (odds ratio = 1.99; 95% CI: 1.45-2.73; P = 2.2 × 10-5) but which was not validated in an independent set of posterior fossa type A patients.ConclusionsInterethnic differences in ependymoma risk are recapitulated in the genomic ancestry of ependymoma patients, implicating regions to target in future association studies.
- Published
- 2020
21. Electronic Medical Record Search Engine (EMERSE): An Information Retrieval Tool for Supporting Cancer Research
- Author
-
Hanauer, David A, Barnholtz-Sloan, Jill S, Beno, Mark F, Del Fiol, Guilherme, Durbin, Eric B, Gologorskaya, Oksana, Harris, Daniel, Harnett, Brett, Kawamoto, Kensaku, May, Benjamin, Meeks, Eric, Pfaff, Emily, Weiss, Janie, and Zheng, Kai
- Subjects
Information and Computing Sciences ,Health Services and Systems ,Information Systems ,Health Sciences ,Clinical Research ,Cancer ,Electronic Health Records ,Humans ,Information Storage and Retrieval ,Natural Language Processing ,Neoplasms ,Search Engine ,Software - Abstract
PurposeThe Electronic Medical Record Search Engine (EMERSE) is a software tool built to aid research spanning cohort discovery, population health, and data abstraction for clinical trials. EMERSE is now live at three academic medical centers, with additional sites currently working on implementation. In this report, we describe how EMERSE has been used to support cancer research based on a variety of metrics.MethodsWe identified peer-reviewed publications that used EMERSE through online searches as well as through direct e-mails to users based on audit logs. These logs were also used to summarize use at each of the three sites. Search terms for two of the sites were characterized using the natural language processing tool MetaMap to determine to which semantic types the terms could be mapped.ResultsWe identified a total of 326 peer-reviewed publications that used EMERSE through August 2019, although this is likely an underestimation of the true total based on the use log analysis. Oncology-related research comprised nearly one third (n = 105; 32.2%) of all research output. The use logs showed that EMERSE had been used by multiple people at each site (nearly 3,500 across all three) who had collectively logged into the system > 100,000 times. Many user-entered search queries could not be mapped to a semantic type, but the most common semantic type for terms that did match was "disease or syndrome," followed by "pharmacologic substance."ConclusionEMERSE has been shown to be a valuable tool for supporting cancer research. It has been successfully deployed at other sites, despite some implementation challenges unique to each deployment environment.
- Published
- 2020
22. Glioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions
- Author
-
Wen, Patrick Y, Weller, Michael, Lee, Eudocia Quant, Alexander, Brian M, Barnholtz-Sloan, Jill S, Barthel, Floris P, Batchelor, Tracy T, Bindra, Ranjit S, Chang, Susan M, Chiocca, E Antonio, Cloughesy, Timothy F, DeGroot, John F, Galanis, Evanthia, Gilbert, Mark R, Hegi, Monika E, Horbinski, Craig, Huang, Raymond Y, Lassman, Andrew B, Le Rhun, Emilie, Lim, Michael, Mehta, Minesh P, Mellinghoff, Ingo K, Minniti, Giuseppe, Nathanson, David, Platten, Michael, Preusser, Matthias, Roth, Patrick, Sanson, Marc, Schiff, David, Short, Susan C, Taphoorn, Martin JB, Tonn, Joerg-Christian, Tsang, Jonathan, Verhaak, Roel GW, von Deimling, Andreas, Wick, Wolfgang, Zadeh, Gelareh, Reardon, David A, Aldape, Kenneth D, and van den Bent, Martin J
- Subjects
Neurosciences ,Rare Diseases ,Cancer ,Brain Disorders ,Brain Cancer ,Good Health and Well Being ,Brain Neoplasms ,Chemoradiotherapy ,Clinical Trials ,Phase III as Topic ,Consensus ,Glioblastoma ,Humans ,Isocitrate Dehydrogenase ,Randomized Controlled Trials as Topic ,glioblastoma ,diagnosis ,therapy ,clinical trials ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Glioblastomas are the most common form of malignant primary brain tumor and an important cause of morbidity and mortality. In recent years there have been important advances in understanding the molecular pathogenesis and biology of these tumors, but this has not translated into significantly improved outcomes for patients. In this consensus review from the Society for Neuro-Oncology (SNO) and the European Association of Neuro-Oncology (EANO), the current management of isocitrate dehydrogenase wildtype (IDHwt) glioblastomas will be discussed. In addition, novel therapies such as targeted molecular therapies, agents targeting DNA damage response and metabolism, immunotherapies, and viral therapies will be reviewed, as well as the current challenges and future directions for research.
- Published
- 2020
23. Identification of novel epithelial ovarian cancer loci in women of African ancestry
- Author
-
Manichaikul, Ani, Peres, Lauren C, Wang, Xin‐Qun, Barnard, Mollie E, Chyn, Deanna, Sheng, Xin, Du, Zhaohui, Tyrer, Jonathan, Dennis, Joseph, Schwartz, Ann G, Cote, Michele L, Peters, Edward, Moorman, Patricia G, Bondy, Melissa, Barnholtz‐Sloan, Jill S, Terry, Paul, Alberg, Anthony J, Bandera, Elisa V, Funkhouser, Ellen, Wu, Anna H, Pearce, Celeste Leigh, Pike, Malcom, Setiawan, Veronica Wendy, Haiman, Christopher A, Consortium, the African American Breast Cancer, Consortium, the African Ancestry Prostate Cancer, Palmer, Julie R, LeMarchand, Loic, Wilkens, Lynne R, Berchuck, Andrew, Doherty, Jennifer A, Modugno, Francesmary, Ness, Roberta, Moysich, Kirsten, Karlan, Beth Y, Whittemore, Alice S, McGuire, Valerie, Sieh, Weiva, Lawrenson, Kate, Gayther, Simon, Sellers, Thomas A, Pharoah, Paul, Schildkraut, Joellen M, and Consortium, the African American Cancer Epidemiology Study and the Ovarian Cancer Association
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Biotechnology ,Cancer ,Prevention ,Ovarian Cancer ,Rare Diseases ,Genetics ,Clinical Research ,2.1 Biological and endogenous factors ,Aetiology ,Black or African American ,Aldo-Keto Reductase Family 1 Member C3 ,Antigens ,Neoplasm ,Black People ,Breast Neoplasms ,Carcinoma ,Ovarian Epithelial ,Female ,Follistatin ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Neoplasm Proteins ,Polymorphism ,Single Nucleotide ,United States ,White People ,ovarian cancer ,African ancestry ,genome wide association study ,gene expression ,eQTLs ,African American Breast Cancer Consortium ,African Ancestry Prostate Cancer Consortium ,African American Cancer Epidemiology Study (AACES) and the Ovarian Cancer Association Consortium ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Women of African ancestry have lower incidence of epithelial ovarian cancer (EOC) yet worse survival compared to women of European ancestry. We conducted a genome-wide association study in African ancestry women with 755 EOC cases, including 537 high-grade serous ovarian carcinomas (HGSOC) and 1,235 controls. We identified four novel loci with suggestive evidence of association with EOC (p
- Published
- 2020
24. 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
25. Cancer Informatics for Cancer Centers (CI4CC): Building a Community Focused on Sharing Ideas and Best Practices to Improve Cancer Care and Patient Outcomes.
- Author
-
Barnholtz-Sloan, Jill S, Rollison, Dana E, Basu, Amrita, Borowsky, Alexander D, Bui, Alex, DiGiovanna, Jack, Garcia-Closas, Montserrat, Genkinger, Jeanine M, Gerke, Travis, Induni, Marta, Lacey, James V, Jr, Mirel, Lisa, Permuth, Jennifer B, Saltz, Joel, Shenkman, Elizabeth A, Ulrich, Cornelia M, Zheng, W Jim, Nadaf, Sorena, and Kibbe, Warren A
- Abstract
Cancer Informatics for Cancer Centers (CI4CC) is a grassroots, nonprofit 501c3 organization intended to provide a focused national forum for engagement of senior cancer informatics leaders, primarily aimed at academic cancer centers anywhere in the world but with a special emphasis on the 70 National Cancer Institute-funded cancer centers. Although each of the participating cancer centers is structured differently, and leaders' titles vary, we know firsthand there are similarities in both the issues we face and the solutions we achieve. As a consortium, we have initiated a dedicated listserv, an open-initiatives program, and targeted biannual face-to-face meetings. These meetings are a place to review our priorities and initiatives, providing a forum for discussion of the strategic and pragmatic issues we, as informatics leaders, individually face at our respective institutions and cancer centers. Here we provide a brief history of the CI4CC organization and meeting highlights from the latest CI4CC meeting that took place in Napa, California from October 14-16, 2019. The focus of this meeting was "intersections between informatics, data science, and population science." We conclude with a discussion on "hot topics" on the horizon for cancer informatics.
- Published
- 2020
26. Longitudinal molecular trajectories of diffuse glioma in adults
- Author
-
Barthel, Floris P, Johnson, Kevin C, Varn, Frederick S, Moskalik, Anzhela D, Tanner, Georgette, Kocakavuk, Emre, Anderson, Kevin J, Abiola, Olajide, Aldape, Kenneth, Alfaro, Kristin D, Alpar, Donat, Amin, Samirkumar B, Ashley, David M, Bandopadhayay, Pratiti, Barnholtz-Sloan, Jill S, Beroukhim, Rameen, Bock, Christoph, Brastianos, Priscilla K, Brat, Daniel J, Brodbelt, Andrew R, Bruns, Alexander F, Bulsara, Ketan R, Chakrabarty, Aruna, Chakravarti, Arnab, Chuang, Jeffrey H, Claus, Elizabeth B, Cochran, Elizabeth J, Connelly, Jennifer, Costello, Joseph F, Finocchiaro, Gaetano, Fletcher, Michael N, French, Pim J, Gan, Hui K, Gilbert, Mark R, Gould, Peter V, Grimmer, Matthew R, Iavarone, Antonio, Ismail, Azzam, Jenkinson, Michael D, Khasraw, Mustafa, Kim, Hoon, Kouwenhoven, Mathilde CM, LaViolette, Peter S, Li, Meihong, Lichter, Peter, Ligon, Keith L, Lowman, Allison K, Malta, Tathiane M, Mazor, Tali, McDonald, Kerrie L, Molinaro, Annette M, Nam, Do-Hyun, Nayyar, Naema, Ng, Ho Keung, Ngan, Chew Yee, Niclou, Simone P, Niers, Johanna M, Noushmehr, Houtan, Noorbakhsh, Javad, Ormond, D Ryan, Park, Chul-Kee, Poisson, Laila M, Rabadan, Raul, Radlwimmer, Bernhard, Rao, Ganesh, Reifenberger, Guido, Sa, Jason K, Schuster, Michael, Shaw, Brian L, Short, Susan C, Smitt, Peter A Sillevis, Sloan, Andrew E, Smits, Marion, Suzuki, Hiromichi, Tabatabai, Ghazaleh, Van Meir, Erwin G, Watts, Colin, Weller, Michael, Wesseling, Pieter, Westerman, Bart A, Widhalm, Georg, Woehrer, Adelheid, Yung, WK Alfred, Zadeh, Gelareh, Huse, Jason T, De Groot, John F, Stead, Lucy F, and Verhaak, Roel GW
- Subjects
Neurosciences ,Brain Disorders ,Cancer ,Rare Diseases ,Brain Cancer ,Genetics ,Adult ,Chromosomes ,Human ,Pair 1 ,Chromosomes ,Human ,Pair 19 ,Disease Progression ,Glioma ,Humans ,Isocitrate Dehydrogenase ,Mutation ,Polymorphism ,Single Nucleotide ,Recurrence ,GLASS Consortium ,General Science & Technology - Abstract
The evolutionary processes that drive universal therapeutic resistance in adult patients with diffuse glioma remain unclear1,2. Here we analysed temporally separated DNA-sequencing data and matched clinical annotation from 222 adult patients with glioma. By analysing mutations and copy numbers across the three major subtypes of diffuse glioma, we found that driver genes detected at the initial stage of disease were retained at recurrence, whereas there was little evidence of recurrence-specific gene alterations. Treatment with alkylating agents resulted in a hypermutator phenotype at different rates across the glioma subtypes, and hypermutation was not associated with differences in overall survival. Acquired aneuploidy was frequently detected in recurrent gliomas and was characterized by IDH mutation but without co-deletion of chromosome arms 1p/19q, and further converged with acquired alterations in the cell cycle and poor outcomes. The clonal architecture of each tumour remained similar over time, but the presence of subclonal selection was associated with decreased survival. Finally, there were no differences in the levels of immunoediting between initial and recurrent gliomas. Collectively, our results suggest that the strongest selective pressures occur during early glioma development and that current therapies shape this evolution in a largely stochastic manner.
- Published
- 2019
27. Changes in survival over time for primary brain and other CNS tumors in the United States, 2004–2017
- Author
-
Cioffi, Gino, Waite, Kristin A., Edelson, Jacob L., Kruchko, Carol, Ostrom, Quinn T., and Barnholtz-Sloan, Jill S.
- Published
- 2022
- Full Text
- View/download PDF
28. Table S1 from The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen
- Author
-
Malta, Tathiane M., primary, Sabedot, Thais S., primary, Morosini, Natalia S., primary, Datta, Indrani, primary, Garofano, Luciano, primary, Vallentgoed, Wies, primary, Varn, Frederick S., primary, Aldape, Kenneth, primary, D'Angelo, Fulvio, primary, Bakas, Spyridon, primary, Barnholtz-Sloan, Jill S., primary, Gan, Hui K., primary, Hasanain, Mohammad, primary, Hau, Ann-Christin, primary, Johnson, Kevin C., primary, Cazacu, Simona, primary, deCarvalho, Ana C., primary, Khasraw, Mustafa, primary, Kocakavuk, Emre, primary, Kouwenhoven, Mathilde C.M., primary, Migliozzi, Simona, primary, Niclou, Simone P., primary, Niers, Johanna M., primary, Ormond, D. Ryan, primary, Paek, Sun Ha, primary, Reifenberger, Guido, primary, Sillevis Smitt, Peter A., primary, Smits, Marion, primary, Stead, Lucy F., primary, van den Bent, Martin J., primary, Van Meir, Erwin G., primary, Walenkamp, Annemiek, primary, Weiss, Tobias, primary, Weller, Michael, primary, Westerman, Bart A., primary, Ylstra, Bauke, primary, Wesseling, Pieter, primary, Lasorella, Anna, primary, French, Pim J., primary, Poisson, Laila M., primary, Woehrer, Adelheid, primary, Lowman, Allison K, primary, deCarvalho, Ana C, primary, Castro, Ana Valeria, primary, Transou, Andrea, primary, Brodbelt, Andrew R, primary, Golebiewska, Anna, primary, Molinaro, Annette M, primary, Iavarone, Antonio, primary, Ismail, Azzam, primary, Westerman, Bart A, primary, Bock, Christoph, primary, Brat, Daniel J, primary, Van Meir, Erwin G, primary, Barthel, Floris P, primary, Varn, Frederick S, primary, Finocchiaro, Gaetano, primary, Rao, Ganesh, primary, Zadeh, Gelareh, primary, ngNg, Ho Keu, primary, Kim, Hoon, primary, Noushmehr, Houtan, primary, Miletic, Hrvoje, primary, Gan, Hui K, primary, Rock, Jack, primary, Snyder, James M, primary, Huse, Jason T, primary, Connelly, Jennifer M, primary, Barnholtz-Sloan, Jill S, primary, Niers, Johanna M, primary, deGroot, John F, primary, Akdemir, Kadir C, primary, Kannan, Kasthuri S, primary, Ligon, Keith L, primary, Bulsara, Ketan R, primary, Johnson, Kevin C, primary, Alfaro, Kristin D, primary, Poisson, Laila M, primary, Stead, Lucy F, primary, Nasrallah, MacLean P, primary, van den Bent, Martin J, primary, Kouwenhoven, Mathilde CM, primary, Gould, Peter V, primary, Smitt, Peter A Sillevis, primary, LaViolette, Peter S, primary, Tatman, Philip D, primary, French, Pim J, primary, Beroukhim, Rameen, primary, Verhaak, Roel G.W., primary, Niclou, Simone P, primary, Kalkanis, Steven, primary, Short, Susan C, primary, Ghazaleh, Tabatabai, primary, Malta, Tathiane M, primary, Sabedot, Thais S, primary, Walbert, Tobias, primary, Baid, Ujjwal, primary, and Yung, W. K. Alfred, primary
- Published
- 2024
- Full Text
- View/download PDF
29. Supp Figures from The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen
- Author
-
Malta, Tathiane M., primary, Sabedot, Thais S., primary, Morosini, Natalia S., primary, Datta, Indrani, primary, Garofano, Luciano, primary, Vallentgoed, Wies, primary, Varn, Frederick S., primary, Aldape, Kenneth, primary, D'Angelo, Fulvio, primary, Bakas, Spyridon, primary, Barnholtz-Sloan, Jill S., primary, Gan, Hui K., primary, Hasanain, Mohammad, primary, Hau, Ann-Christin, primary, Johnson, Kevin C., primary, Cazacu, Simona, primary, deCarvalho, Ana C., primary, Khasraw, Mustafa, primary, Kocakavuk, Emre, primary, Kouwenhoven, Mathilde C.M., primary, Migliozzi, Simona, primary, Niclou, Simone P., primary, Niers, Johanna M., primary, Ormond, D. Ryan, primary, Paek, Sun Ha, primary, Reifenberger, Guido, primary, Sillevis Smitt, Peter A., primary, Smits, Marion, primary, Stead, Lucy F., primary, van den Bent, Martin J., primary, Van Meir, Erwin G., primary, Walenkamp, Annemiek, primary, Weiss, Tobias, primary, Weller, Michael, primary, Westerman, Bart A., primary, Ylstra, Bauke, primary, Wesseling, Pieter, primary, Lasorella, Anna, primary, French, Pim J., primary, Poisson, Laila M., primary, Woehrer, Adelheid, primary, Lowman, Allison K, primary, deCarvalho, Ana C, primary, Castro, Ana Valeria, primary, Transou, Andrea, primary, Brodbelt, Andrew R, primary, Golebiewska, Anna, primary, Molinaro, Annette M, primary, Iavarone, Antonio, primary, Ismail, Azzam, primary, Westerman, Bart A, primary, Bock, Christoph, primary, Brat, Daniel J, primary, Van Meir, Erwin G, primary, Barthel, Floris P, primary, Varn, Frederick S, primary, Finocchiaro, Gaetano, primary, Rao, Ganesh, primary, Zadeh, Gelareh, primary, ngNg, Ho Keu, primary, Kim, Hoon, primary, Noushmehr, Houtan, primary, Miletic, Hrvoje, primary, Gan, Hui K, primary, Rock, Jack, primary, Snyder, James M, primary, Huse, Jason T, primary, Connelly, Jennifer M, primary, Barnholtz-Sloan, Jill S, primary, Niers, Johanna M, primary, deGroot, John F, primary, Akdemir, Kadir C, primary, Kannan, Kasthuri S, primary, Ligon, Keith L, primary, Bulsara, Ketan R, primary, Johnson, Kevin C, primary, Alfaro, Kristin D, primary, Poisson, Laila M, primary, Stead, Lucy F, primary, Nasrallah, MacLean P, primary, van den Bent, Martin J, primary, Kouwenhoven, Mathilde CM, primary, Gould, Peter V, primary, Smitt, Peter A Sillevis, primary, LaViolette, Peter S, primary, Tatman, Philip D, primary, French, Pim J, primary, Beroukhim, Rameen, primary, Verhaak, Roel G.W., primary, Niclou, Simone P, primary, Kalkanis, Steven, primary, Short, Susan C, primary, Ghazaleh, Tabatabai, primary, Malta, Tathiane M, primary, Sabedot, Thais S, primary, Walbert, Tobias, primary, Baid, Ujjwal, primary, and Yung, W. K. Alfred, primary
- Published
- 2024
- Full Text
- View/download PDF
30. Supplemental Figures Legends from The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen
- Author
-
Malta, Tathiane M., primary, Sabedot, Thais S., primary, Morosini, Natalia S., primary, Datta, Indrani, primary, Garofano, Luciano, primary, Vallentgoed, Wies, primary, Varn, Frederick S., primary, Aldape, Kenneth, primary, D'Angelo, Fulvio, primary, Bakas, Spyridon, primary, Barnholtz-Sloan, Jill S., primary, Gan, Hui K., primary, Hasanain, Mohammad, primary, Hau, Ann-Christin, primary, Johnson, Kevin C., primary, Cazacu, Simona, primary, deCarvalho, Ana C., primary, Khasraw, Mustafa, primary, Kocakavuk, Emre, primary, Kouwenhoven, Mathilde C.M., primary, Migliozzi, Simona, primary, Niclou, Simone P., primary, Niers, Johanna M., primary, Ormond, D. Ryan, primary, Paek, Sun Ha, primary, Reifenberger, Guido, primary, Sillevis Smitt, Peter A., primary, Smits, Marion, primary, Stead, Lucy F., primary, van den Bent, Martin J., primary, Van Meir, Erwin G., primary, Walenkamp, Annemiek, primary, Weiss, Tobias, primary, Weller, Michael, primary, Westerman, Bart A., primary, Ylstra, Bauke, primary, Wesseling, Pieter, primary, Lasorella, Anna, primary, French, Pim J., primary, Poisson, Laila M., primary, Woehrer, Adelheid, primary, Lowman, Allison K, primary, deCarvalho, Ana C, primary, Castro, Ana Valeria, primary, Transou, Andrea, primary, Brodbelt, Andrew R, primary, Golebiewska, Anna, primary, Molinaro, Annette M, primary, Iavarone, Antonio, primary, Ismail, Azzam, primary, Westerman, Bart A, primary, Bock, Christoph, primary, Brat, Daniel J, primary, Van Meir, Erwin G, primary, Barthel, Floris P, primary, Varn, Frederick S, primary, Finocchiaro, Gaetano, primary, Rao, Ganesh, primary, Zadeh, Gelareh, primary, ngNg, Ho Keu, primary, Kim, Hoon, primary, Noushmehr, Houtan, primary, Miletic, Hrvoje, primary, Gan, Hui K, primary, Rock, Jack, primary, Snyder, James M, primary, Huse, Jason T, primary, Connelly, Jennifer M, primary, Barnholtz-Sloan, Jill S, primary, Niers, Johanna M, primary, deGroot, John F, primary, Akdemir, Kadir C, primary, Kannan, Kasthuri S, primary, Ligon, Keith L, primary, Bulsara, Ketan R, primary, Johnson, Kevin C, primary, Alfaro, Kristin D, primary, Poisson, Laila M, primary, Stead, Lucy F, primary, Nasrallah, MacLean P, primary, van den Bent, Martin J, primary, Kouwenhoven, Mathilde CM, primary, Gould, Peter V, primary, Smitt, Peter A Sillevis, primary, LaViolette, Peter S, primary, Tatman, Philip D, primary, French, Pim J, primary, Beroukhim, Rameen, primary, Verhaak, Roel G.W., primary, Niclou, Simone P, primary, Kalkanis, Steven, primary, Short, Susan C, primary, Ghazaleh, Tabatabai, primary, Malta, Tathiane M, primary, Sabedot, Thais S, primary, Walbert, Tobias, primary, Baid, Ujjwal, primary, and Yung, W. K. Alfred, primary
- Published
- 2024
- Full Text
- View/download PDF
31. Data from The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen
- Author
-
Malta, Tathiane M., primary, Sabedot, Thais S., primary, Morosini, Natalia S., primary, Datta, Indrani, primary, Garofano, Luciano, primary, Vallentgoed, Wies, primary, Varn, Frederick S., primary, Aldape, Kenneth, primary, D'Angelo, Fulvio, primary, Bakas, Spyridon, primary, Barnholtz-Sloan, Jill S., primary, Gan, Hui K., primary, Hasanain, Mohammad, primary, Hau, Ann-Christin, primary, Johnson, Kevin C., primary, Cazacu, Simona, primary, deCarvalho, Ana C., primary, Khasraw, Mustafa, primary, Kocakavuk, Emre, primary, Kouwenhoven, Mathilde C.M., primary, Migliozzi, Simona, primary, Niclou, Simone P., primary, Niers, Johanna M., primary, Ormond, D. Ryan, primary, Paek, Sun Ha, primary, Reifenberger, Guido, primary, Sillevis Smitt, Peter A., primary, Smits, Marion, primary, Stead, Lucy F., primary, van den Bent, Martin J., primary, Van Meir, Erwin G., primary, Walenkamp, Annemiek, primary, Weiss, Tobias, primary, Weller, Michael, primary, Westerman, Bart A., primary, Ylstra, Bauke, primary, Wesseling, Pieter, primary, Lasorella, Anna, primary, French, Pim J., primary, Poisson, Laila M., primary, Woehrer, Adelheid, primary, Lowman, Allison K, primary, deCarvalho, Ana C, primary, Castro, Ana Valeria, primary, Transou, Andrea, primary, Brodbelt, Andrew R, primary, Golebiewska, Anna, primary, Molinaro, Annette M, primary, Iavarone, Antonio, primary, Ismail, Azzam, primary, Westerman, Bart A, primary, Bock, Christoph, primary, Brat, Daniel J, primary, Van Meir, Erwin G, primary, Barthel, Floris P, primary, Varn, Frederick S, primary, Finocchiaro, Gaetano, primary, Rao, Ganesh, primary, Zadeh, Gelareh, primary, ngNg, Ho Keu, primary, Kim, Hoon, primary, Noushmehr, Houtan, primary, Miletic, Hrvoje, primary, Gan, Hui K, primary, Rock, Jack, primary, Snyder, James M, primary, Huse, Jason T, primary, Connelly, Jennifer M, primary, Barnholtz-Sloan, Jill S, primary, Niers, Johanna M, primary, deGroot, John F, primary, Akdemir, Kadir C, primary, Kannan, Kasthuri S, primary, Ligon, Keith L, primary, Bulsara, Ketan R, primary, Johnson, Kevin C, primary, Alfaro, Kristin D, primary, Poisson, Laila M, primary, Stead, Lucy F, primary, Nasrallah, MacLean P, primary, van den Bent, Martin J, primary, Kouwenhoven, Mathilde CM, primary, Gould, Peter V, primary, Smitt, Peter A Sillevis, primary, LaViolette, Peter S, primary, Tatman, Philip D, primary, French, Pim J, primary, Beroukhim, Rameen, primary, Verhaak, Roel G.W., primary, Niclou, Simone P, primary, Kalkanis, Steven, primary, Short, Susan C, primary, Ghazaleh, Tabatabai, primary, Malta, Tathiane M, primary, Sabedot, Thais S, primary, Walbert, Tobias, primary, Baid, Ujjwal, primary, and Yung, W. K. Alfred, primary
- Published
- 2024
- Full Text
- View/download PDF
32. Supplementary Appendix from The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen
- Author
-
Malta, Tathiane M., primary, Sabedot, Thais S., primary, Morosini, Natalia S., primary, Datta, Indrani, primary, Garofano, Luciano, primary, Vallentgoed, Wies, primary, Varn, Frederick S., primary, Aldape, Kenneth, primary, D'Angelo, Fulvio, primary, Bakas, Spyridon, primary, Barnholtz-Sloan, Jill S., primary, Gan, Hui K., primary, Hasanain, Mohammad, primary, Hau, Ann-Christin, primary, Johnson, Kevin C., primary, Cazacu, Simona, primary, deCarvalho, Ana C., primary, Khasraw, Mustafa, primary, Kocakavuk, Emre, primary, Kouwenhoven, Mathilde C.M., primary, Migliozzi, Simona, primary, Niclou, Simone P., primary, Niers, Johanna M., primary, Ormond, D. Ryan, primary, Paek, Sun Ha, primary, Reifenberger, Guido, primary, Sillevis Smitt, Peter A., primary, Smits, Marion, primary, Stead, Lucy F., primary, van den Bent, Martin J., primary, Van Meir, Erwin G., primary, Walenkamp, Annemiek, primary, Weiss, Tobias, primary, Weller, Michael, primary, Westerman, Bart A., primary, Ylstra, Bauke, primary, Wesseling, Pieter, primary, Lasorella, Anna, primary, French, Pim J., primary, Poisson, Laila M., primary, Woehrer, Adelheid, primary, Lowman, Allison K, primary, deCarvalho, Ana C, primary, Castro, Ana Valeria, primary, Transou, Andrea, primary, Brodbelt, Andrew R, primary, Golebiewska, Anna, primary, Molinaro, Annette M, primary, Iavarone, Antonio, primary, Ismail, Azzam, primary, Westerman, Bart A, primary, Bock, Christoph, primary, Brat, Daniel J, primary, Van Meir, Erwin G, primary, Barthel, Floris P, primary, Varn, Frederick S, primary, Finocchiaro, Gaetano, primary, Rao, Ganesh, primary, Zadeh, Gelareh, primary, ngNg, Ho Keu, primary, Kim, Hoon, primary, Noushmehr, Houtan, primary, Miletic, Hrvoje, primary, Gan, Hui K, primary, Rock, Jack, primary, Snyder, James M, primary, Huse, Jason T, primary, Connelly, Jennifer M, primary, Barnholtz-Sloan, Jill S, primary, Niers, Johanna M, primary, deGroot, John F, primary, Akdemir, Kadir C, primary, Kannan, Kasthuri S, primary, Ligon, Keith L, primary, Bulsara, Ketan R, primary, Johnson, Kevin C, primary, Alfaro, Kristin D, primary, Poisson, Laila M, primary, Stead, Lucy F, primary, Nasrallah, MacLean P, primary, van den Bent, Martin J, primary, Kouwenhoven, Mathilde CM, primary, Gould, Peter V, primary, Smitt, Peter A Sillevis, primary, LaViolette, Peter S, primary, Tatman, Philip D, primary, French, Pim J, primary, Beroukhim, Rameen, primary, Verhaak, Roel G.W., primary, Niclou, Simone P, primary, Kalkanis, Steven, primary, Short, Susan C, primary, Ghazaleh, Tabatabai, primary, Malta, Tathiane M, primary, Sabedot, Thais S, primary, Walbert, Tobias, primary, Baid, Ujjwal, primary, and Yung, W. K. Alfred, primary
- Published
- 2024
- Full Text
- View/download PDF
33. An independently validated nomogram for isocitrate dehydrogenase-wild-type glioblastoma patient survival.
- Author
-
Gittleman, Haley, Cioffi, Gino, Chunduru, Pranathi, Molinaro, Annette M, Berger, Mitchel S, Sloan, Andrew E, and Barnholtz-Sloan, Jill S
- Subjects
IDH-wild-type ,glioblastoma ,nomogram ,survival - Abstract
BackgroundIn 2016, the World Health Organization reclassified the definition of glioblastoma (GBM), dividing these tumors into isocitrate dehydrogenase (IDH)-wild-type and IDH-mutant GBM, where the vast majority of GBMs are IDH-wild-type. Nomograms are useful tools for individualized estimation of survival. This study aimed to develop and independently validate a nomogram for IDH-wild-type patients with newly diagnosed GBM.MethodsData were obtained from newly diagnosed GBM patients from the Ohio Brain Tumor Study (OBTS) and the University of California San Francisco (UCSF) for diagnosis years 2007-2017 with the following variables: age at diagnosis, sex, extent of resection, concurrent radiation/temozolomide (TMZ) status, Karnofsky Performance Status (KPS), O6-methylguanine-DNA methyltransferase (MGMT) methylation status, and IDH mutation status. Survival was assessed using Cox proportional hazards regression, random survival forests, and recursive partitioning analysis, with adjustment for known prognostic factors. The models were developed using the OBTS data and independently validated using the UCSF data. Models were internally validated using 10-fold cross-validation and externally validated by plotting calibration curves.ResultsA final nomogram was validated for IDH-wild-type newly diagnosed GBM. Factors that increased the probability of survival included younger age at diagnosis, female sex, having gross total resection, having concurrent radiation/TMZ, having a high KPS, and having MGMT methylation.ConclusionsA nomogram that calculates individualized survival probabilities for IDH-wild-type patients with newly diagnosed GBM could be useful to physicians for counseling patients regarding treatment decisions and optimizing therapeutic approaches. Free software for implementing this nomogram is provided: https://gcioffi.shinyapps.io/Nomogram_For_IDH_Wildtype_GBM_H_Gittleman/.
- Published
- 2019
34. The Misclassification of Diffuse Gliomas: Rates and Outcomes
- Author
-
Iorgulescu, J Bryan, Torre, Matthew, Harary, Maya, Smith, Timothy R, Aizer, Ayal A, Reardon, David A, Barnholtz-Sloan, Jill S, and Perry, Arie
- Subjects
Brain Cancer ,Rare Diseases ,Brain Disorders ,Clinical Research ,Cancer ,Neurosciences ,Biomarkers ,Tumor ,Brain Neoplasms ,Chromosome Aberrations ,Diagnostic Errors ,Female ,Glioma ,Humans ,Male ,Neoplasm Grading ,Neoplasm Staging ,World Health Organization ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
PurposeThe integrated histopathologic and molecular diagnoses of the 2016 WHO classification of central nervous system tumors have revolutionized patient care by improving diagnostic accuracy and reproducibility; however, the frequency and consequences of misclassification of histologically diagnosed diffuse gliomas are unknown.Experimental designPatients with newly diagnosed ICD-O-3 (International Classification of Diseases) histologically encoded diffuse gliomas from 2010-2015 were identified from the National Cancer Database, the misclassification rates and overall survival (OS) of which were assessed by WHO grade and 1p/19q status. In addition, misclassification rates by isocitrate dehydrogenase (IDH), ATRX, and p53 statuses were examined in an analogous multi-institutional cohort of registry-encoded diffuse gliomas.ResultsOf 74,718 patients with diffuse glioma, only 74.4% and 78.8% of molecularly characterized WHO grade II and III oligodendrogliomas were in fact 1p/19q-codeleted. In addition, 28.9% and 36.8% of histologically encoded grade II and III "oligoastrocytomas", and 6.3% and 8.8% of grade II and III astrocytomas had 1p/19q-codeletion, thus molecularly representing oligodendrogliomas if also IDH mutant. OS significantly depended on accurate WHO grading and 1p/19q status.ConclusionsOn the basis of 1p/19q, IDH, ATRX, and p53, the misclassification rates of histologically encoded oligodendrogliomas, astrocytomas, and glioblastomas are approximately 21%-35%, 6%-9%, and 9%, respectively; with significant clinical implications. Our findings suggest that when compared with historical histology-only classified data, in national registry, as well as, institutional databases, there is the potential for false-positive results in contemporary trials of molecularly classified diffuse gliomas, which could contribute to a seemingly positive phase II trial (based on historical comparison) failing at the phase III stage. Critically, findings from diffuse glioma clinical trials and historical cohorts using prior histology-only WHO schemes must be cautiously reinterpreted.
- Published
- 2019
35. Peripheral Blood Mitochondrial DNA Copy Number Obtained From Genome-Wide Genotype Data Is Associated With Neurocognitive Impairment in Persons With Chronic HIV Infection
- Author
-
Hulgan, Todd, Kallianpur, Asha R, Guo, Yan, Barnholtz-Sloan, Jill S, Gittleman, Haley, Brown, Todd T, Ellis, Ronald, Letendre, Scott, Heaton, Robert K, and Samuels, David C
- Subjects
Brain Disorders ,Infectious Diseases ,Neurosciences ,Genetics ,Human Genome ,HIV/AIDS ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,AIDS Dementia Complex ,Adult ,Anti-Retroviral Agents ,DNA Copy Number Variations ,DNA ,Mitochondrial ,Female ,Genome-Wide Association Study ,Genotype ,HIV Infections ,Humans ,Male ,Middle Aged ,Mitochondria ,Neurocognitive Disorders ,Neuropsychological Tests ,DNA ,mitochondrial ,HIV ,neurocognitive disorders ,CHARTER Study ,Clinical Sciences ,Public Health and Health Services ,Virology - Abstract
BackgroundMitochondrial DNA (mtDNA) copy number varies by cell type and energy demands. Blood mtDNA copy number has been associated with neurocognitive function in persons without HIV. Low mtDNA copy number may indicate disordered mtDNA replication; high copy number may reflect a response to mitochondrial dysfunction. We hypothesized that blood mtDNA copy number estimated from genome-wide genotyping data is related to neurocognitive impairment (NCI) in persons with HIV.MethodsIn the CNS HIV Antiretroviral Therapy Effects Research (CHARTER) study, peripheral blood mtDNA copy number was obtained from genome-wide genotyping data as a ratio of mtDNA single-nucleotide polymorphism probe intensities relative to nuclear DNA single-nucleotide polymorphisms. In a multivariable regression model, associations between mtDNA copy number and demographics, blood cell counts, and HIV disease and treatment characteristics were tested. Associations of mtDNA copy number with the global deficit score (GDS), GDS-defined NCI (GDS ≥ 0.5), and HIV-associated neurocognitive disorder (HAND) diagnosis were tested by logistic regression, adjusting for potential confounders.ResultsAmong 1010 CHARTER participants, lower mtDNA copy number was associated with longer antiretroviral therapy duration (P < 0.001), but not with d-drug exposure (P = 0.85). mtDNA copy number was also associated with GDS (P = 0.007), GDS-defined NCI (P < 0.001), and HAND (P = 0.002). In all analyses, higher mtDNA copy number was associated with poorer cognitive performance.ConclusionsHigher mtDNA copy number estimated from peripheral blood genotyping was associated with worse neurocognitive performance in adults with HIV. These results suggest a connection between peripheral blood mtDNA and NCI, and may represent increased mtDNA replication in response to mitochondrial dysfunction.
- Published
- 2019
36. Multiscale, multimodal analysis of tumor heterogeneity in IDH1 mutant vs wild-type diffuse gliomas.
- Author
-
Berens, Michael E, Sood, Anup, Barnholtz-Sloan, Jill S, Graf, John F, Cho, Sanghee, Kim, Seungchan, Kiefer, Jeffrey, Byron, Sara A, Halperin, Rebecca F, Nasser, Sara, Adkins, Jonathan, Cuyugan, Lori, Devine, Karen, Ostrom, Quinn, Couce, Marta, Wolansky, Leo, McDonough, Elizabeth, Schyberg, Shannon, Dinn, Sean, Sloan, Andrew E, Prados, Michael, Phillips, Joanna J, Nelson, Sarah J, Liang, Winnie S, Al-Kofahi, Yousef, Rusu, Mirabela, Zavodszky, Maria I, and Ginty, Fiona
- Subjects
Humans ,Glioma ,Brain Neoplasms ,Isocitrate Dehydrogenase ,Magnetic Resonance Imaging ,Fluorescent Antibody Technique ,Case-Control Studies ,Sequence Analysis ,RNA ,Proteomics ,Genetic Heterogeneity ,Mutation ,Adult ,Aged ,Middle Aged ,Female ,Male ,Single-Cell Analysis ,Neoplasm Grading ,Biomarkers ,Tumor ,Whole Exome Sequencing ,Biomarkers ,Tumor ,Sequence Analysis ,RNA ,General Science & Technology - Abstract
Glioma is recognized to be a highly heterogeneous CNS malignancy, whose diverse cellular composition and cellular interactions have not been well characterized. To gain new clinical- and biological-insights into the genetically-bifurcated IDH1 mutant (mt) vs wildtype (wt) forms of glioma, we integrated data from protein, genomic and MR imaging from 20 treatment-naïve glioma cases and 16 recurrent GBM cases. Multiplexed immunofluorescence (MxIF) was used to generate single cell data for 43 protein markers representing all cancer hallmarks, Genomic sequencing (exome and RNA (normal and tumor) and magnetic resonance imaging (MRI) quantitative features (protocols were T1-post, FLAIR and ADC) from whole tumor, peritumoral edema and enhancing core vs equivalent normal region were also collected from patients. Based on MxIF analysis, 85,767 cells (glioma cases) and 56,304 cells (GBM cases) were used to generate cell-level data for 24 biomarkers. K-means clustering was used to generate 7 distinct groups of cells with divergent biomarker profiles and deconvolution was used to assign RNA data into three classes. Spatial and molecular heterogeneity metrics were generated for the cell data. All features were compared between IDH mt and IDHwt patients and were finally combined to provide a holistic/integrated comparison. Protein expression by hallmark was generally lower in the IDHmt vs wt patients. Molecular and spatial heterogeneity scores for angiogenesis and cell invasion also differed between IDHmt and wt gliomas irrespective of prior treatment and tumor grade; these differences also persisted in the MR imaging features of peritumoral edema and contrast enhancement volumes. A coherent picture of enhanced angiogenesis in IDHwt tumors was derived from multiple platforms (genomic, proteomic and imaging) and scales from individual proteins to cell clusters and heterogeneity, as well as bulk tumor RNA and imaging features. Longer overall survival for IDH1mt glioma patients may reflect mutation-driven alterations in cellular, molecular, and spatial heterogeneity which manifest in discernable radiological manifestations.
- Published
- 2019
37. 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
38. Epidemiology of primary malignant non-osseous spinal tumors in the United States
- Author
-
Momin, Arbaz A., Oyem, Precious, Patil, Nirav, Soni, Pranay, Potter, Tamia O., Cioffi, Gino, Waite, Kristin, Ostrom, Quinn, Kruchko, Caro, Barnholtz-Sloan, Jill S., Recinos, Pablo F., Kshettry, Varun R., and Steinmetz, Michael P.
- Published
- 2022
- Full Text
- View/download PDF
39. Sex differences in esophageal cancer overall and by histological subtype
- Author
-
Stabellini, Nickolas, Chandar, Apoorva Krishna, Chak, Amitabh, Barda, Amie J., Dmukauskas, Mantas, Waite, Kristin, and Barnholtz-Sloan, Jill S.
- Published
- 2022
- Full Text
- View/download PDF
40. Sex Difference in Disease-Related Adverse Events Post-Diagnosis of Lung Cancer Brain Metastases in Medicare Individuals ≥ 66 Years of Age.
- Author
-
Dmukauskas, Mantas, Cioffi, Gino, Waite, Kristin A., Mammoser, Aaron G., Sloan, Andrew E., Ma, Patrick C., and Barnholtz-Sloan, Jill S.
- Subjects
SQUAMOUS cell carcinoma ,ADENOCARCINOMA ,RISK assessment ,RESEARCH funding ,VISION disorders ,SEX distribution ,MEDICARE ,LOGISTIC regression analysis ,HEADACHE ,HEMORRHAGIC stroke ,METASTASIS ,PARADIGMS (Social sciences) ,LUNG tumors ,SMALL cell carcinoma ,LUNG cancer ,BRAIN tumors ,DISEASE risk factors ,DISEASE complications ,OLD age - Abstract
Simple Summary: It is known that there are sex differences in adverse events experienced following cancer treatment. However, little is known about sex differences in adverse events experienced in individuals with metastatic cancer. Here, using SEER-Medicare data, we investigate sex differences in adverse events in lung cancer individuals with brain metastasis who are 66 years old and older. Sex differences in adverse events were observed and were dependent on lung cancer histology, age at diagnosis, year of diagnosis and treatment as well as potential interplay between these variables. Sex differences are evident in adverse events (AEs) related to brain tumors, yet sex differences in AEs specific to brain metastases (BrMs) are underexplored. Lung cancer BrMs dominate among BrM, comprising over half of cases. This study examined sex differences in AEs associated with lung cancer BrMs in individuals aged 66 or older using the SEER-Medicare dataset. Multivariable logistic regression, adjusted for demographic factors and comorbidities, stratified by histological subtype, treatment, age, and year of diagnosis were used to analyze AEs among those with BrMs from primary lung tumors. Year of diagnosis was grouped into prior/post-2013, to account for shifts in treatment paradigms. The results showed nuanced sex-specific AEs. Females diagnosed post-2013 with small-cell, squamous-cell, or other non-small-cell carcinoma BrMs had a higher headache likelihood than males. Males with adenocarcinoma post-2013 were more likely to experience brain herniation. Females aged 76 and older with small-cell BrM exhibited increased vision difficulty risk compared to males of the same age, with no significant difference in other age groups. Males treated for adenocarcinoma faced heightened hemorrhagic stroke risk. This study reveals sex-specific disparities in AEs among older individuals with lung cancer BrMs, varying by histological subtype, age, diagnosis year, and treatment. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
41. Sex-Specific Differences in Patients with IDH1--Wild-Type Grade 4 Glioma in the ReSPOND Consortium.
- Author
-
Gongala, Sree, Garcia, Jose A., Korakavi, Nisha, Patil, Nirav, Akbari, Hamed, Sloan, Andrew, Barnholtz-Sloan, Jill S., Sun, Jessie, Griffith, Brent, Poisson, Laila M., Booth, Thomas C., Jain, Rajan, Mohan, Suyash, Nasralla, MacLean P., Bakas, Spyridon, Tippareddy, Charit, Puig, Josep, Palmer, Joshua D., Wenyin Shi, and Colen, Rivka R.
- Published
- 2024
- Full Text
- View/download PDF
42. Independently validated sex-specific nomograms for predicting survival in patients with newly diagnosed glioblastoma: NRG Oncology RTOG 0525 and 0825
- Author
-
Patil, Nirav, Somasundaram, Eashwar, Waite, Kristin A., Lathia, Justin D., Machtay, Mitchell, Gilbert, Mark R., Connor, James R., Rubin, Joshua B., Berens, Michael E., Buerki, Robin A., Choi, Serah, Sloan, Andrew E., Penas-Prado, Marta, Ashby, Lynn S., Blumenthal, Deborah T., Werner-Wasik, Maria, Hunter, Grant K., Flickinger, John C., Wendland, Merideth M., Panet-Raymond, Valerie, Robins, H. Ian, Pugh, Stephanie L., Mehta, Minesh P., and Barnholtz-Sloan, Jill S.
- Published
- 2021
- Full Text
- View/download PDF
43. Glioma through the looking GLASS: molecular evolution of diffuse gliomas and the Glioma Longitudinal Analysis Consortium
- Author
-
Aldape, Kenneth, Amin, Samirkumar B, Ashley, David M, Barnholtz-Sloan, Jill S, Bates, Amanda J, Beroukhim, Rameen, Bock, Christoph, Brat, Daniel J, Claus, Elizabeth B, Costello, Joseph F, de Groot, John F, Finocchiaro, Gaetano, French, Pim J, Gan, Hui K, Griffith, Brent, Herold-Mende, Christel C, Horbinski, Craig, Iavarone, Antonio, Kalkanis, Steven N, Karabatsou, Konstantina, Kim, Hoon, Kouwenhoven, Mathilde CM, McDonald, Kerrie L, Miletic, Hrvoje, Nam, Do-Hyun, Ng, Ho Keung, Niclou, Simone P, Noushmehr, Houtan, Ormond, D Ryan, Poisson, Laila M, Reifenberger, Guido, Roncaroli, Federico, Sa, Jason K, Smitt, Peter AE Sillevis, Smits, Marion, Souza, Camila F, Tabatabai, Ghazaleh, Van Meir, Erwin G, Verhaak, Roel GW, Watts, Colin, Wesseling, Pieter, Woehrer, Adelheid, Yung, WK Alfred, Jungk, Christine, Hau, Ann-Christin, van Dyck, Eric, Westerman, Bart A, Yin, Julia, Abiola, Olajide, Zeps, Nikolaj, Grimmond, Sean, Buckland, Michael, Khasraw, Mustafa, Sulman, Erik P, Muscat, Andrea M, and Stead, Lucy
- Subjects
Cancer ,Human Genome ,Brain Cancer ,Rare Diseases ,Orphan Drug ,Brain Disorders ,Neurosciences ,Genetics ,Brain Neoplasms ,Evolution ,Molecular ,Genomics ,Glioma ,Humans ,Longitudinal Studies ,characterization ,evolution ,glioma ,sequencing ,subtypes ,GLASS Consortium ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Adult diffuse gliomas are a diverse group of brain neoplasms that inflict a high emotional toll on patients and their families. The Cancer Genome Atlas and similar projects have provided a comprehensive understanding of the somatic alterations and molecular subtypes of glioma at diagnosis. However, gliomas undergo significant cellular and molecular evolution during disease progression. We review the current knowledge on the genomic and epigenetic abnormalities in primary tumors and after disease recurrence, highlight the gaps in the literature, and elaborate on the need for a new multi-institutional effort to bridge these knowledge gaps and how the Glioma Longitudinal Analysis Consortium (GLASS) aims to systemically catalog the longitudinal changes in gliomas. The GLASS initiative will provide essential insights into the evolution of glioma toward a lethal phenotype, with the potential to reveal targetable vulnerabilities and, ultimately, improved outcomes for a patient population in need.
- Published
- 2018
44. 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
45. 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
46. NCI Cancer Research Data Commons: Resources to Share Key Cancer Data
- Author
-
Wang, Zhining, primary, Davidsen, Tanja M., additional, Kuffel, Gina R., additional, Addepalli, KanakaDurga, additional, Bell, Amanda, additional, Casas-Silva, Esmeralda, additional, Dingerdissen, Hayley, additional, Farahani, Keyvan, additional, Fedorov, Andrey, additional, Gaheen, Sharon, additional, Grossman, Robert L., additional, Kikinis, Ron, additional, Kim, Erika, additional, Otridge, John, additional, Pihl, Todd, additional, Porter, Melissa, additional, Rodriguez, Henry, additional, Staudt, Louis M., additional, Thangudu, Ratna R., additional, Venkatachari, Sudha, additional, Zenklusen, Jean Claude, additional, Zhang, Xu, additional, Barnholtz-Sloan, Jill S., additional, CRDC Program, the, additional, and Kerlavage, Anthony R., additional
- Published
- 2024
- Full Text
- View/download PDF
47. NCI Cancer Research Data Commons: Cloud-based Analytical Resources
- Author
-
Pot, David, primary, Worman, Zelia, additional, Baumann, Alexander, additional, Pathak, Shirish, additional, Beck, Rowan, additional, Beck, Erin, additional, Thayer, Katherine, additional, Davidsen, Tanja M., additional, Kim, Erika, additional, Davis-Dusenbery, Brandi, additional, Otridge, John, additional, Pihl, Todd, additional, CRDC Program, the, additional, Barnholtz-Sloan, Jill S., additional, and Kerlavage, Anthony R., additional
- Published
- 2024
- Full Text
- View/download PDF
48. NCI Cancer Research Data Commons: Lessons Learned and Future State
- Author
-
Kim, Erika, primary, Davidsen, Tanja M., additional, Davis-Dusenbery, Brandi, additional, Baumann, Alexander, additional, Maggio, Angela, additional, Chen, Zhaoyi, additional, Meerzaman, Daoud, additional, Casas-Silva, Esmeralda, additional, Pot, David, additional, Pihl, Todd, additional, Otridge, John, additional, Shalley, Eve, additional, CRDC Program, the, additional, Barnholtz-Sloan, Jill S., additional, and Kerlavage, Anthony R., additional
- Published
- 2024
- Full Text
- View/download PDF
49. NCI Cancer Research Data Commons: Core Standards and Services
- Author
-
Brady, Arthur, primary, Charbonneau, Amanda, additional, Grossman, Robert L., additional, Creasy, Heather H., additional, Renner, Robinette, additional, Pihl, Todd, additional, Otridge, John, additional, Kim, Erika, additional, CRDC Program, the, additional, Barnholtz-Sloan, Jill S., additional, and Kerlavage, Anthony R., additional
- Published
- 2024
- Full Text
- View/download PDF
50. Single cell RNA sequencing of AML initiating cells reveals RNA-based evolution during disease progression
- Author
-
Stetson, L. C., Balasubramanian, Dheepa, Ribeiro, Susan Pereira, Stefan, Tammy, Gupta, Kalpana, Xu, Xuan, Fourati, Slim, Roe, Anne, Jackson, Zachary, Schauner, Robert, Sharma, Ashish, Tamilselvan, Banumathi, Li, Samuel, de Lima, Marcos, Hwang, Tae Hyun, Balderas, Robert, Saunthararajah, Yogen, Maciejewski, Jaroslaw, LaFramboise, Thomas, Barnholtz-Sloan, Jill S., Sekaly, Rafick-Pierre, and Wald, David N.
- Published
- 2021
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.