Article
Multidisciplinary Sciences
Taryn D. Treger, John E. G. Lawrence, Nathaniel D. Anderson, Tim H. H. Coorens, Aleksandra Letunovska, Emilie Abby, Henry Lee-Six, Thomas R. W. Oliver, Reem Al-Saadi, Kjell Tullus, Guillaume Morcrette, J. Ciaran Hutchinson, Dyanne Rampling, Neil Sebire, Kathy Pritchard-Jones, Matthew D. Young, Thomas J. Mitchell, Philip H. Jones, Maxine Tran, Sam Behjati, Tanzina Chowdhury
Summary: In this study, we examined somatic changes in reninoma and discovered structural variants involving NOTCH1 and NRARP, resulting in excessive renin and NOTCH1 signaling but normal expression of NRARP. Additionally, our findings were supported by previous studies that also found dysregulated Notch pathway signaling in reninoma.
NATURE COMMUNICATIONS
(2023)
Review
Oncology
Federico Pozzo, Tamara Bittolo, Erika Tissino, Antonella Zucchetto, Riccardo Bomben, Laura Polcik, Svenja Dannewitz Prosseda, Tanja Nicole Hartmann, Valter Gattei
Summary: This article reviews the mechanisms of activating the NOTCH1 pathway in CLL, including NOTCH1 gene mutations and mutations in other pathways and physiological signals. Understanding the strategies through which CLL cells hijack NOTCH1 signaling is of great importance in designing targeted treatment strategies for CLL management.
Review
Biochemistry & Molecular Biology
Xunuo Zhu, Wenyi Zhao, Zhan Zhou, Xun Gu
Summary: Cancer originates from somatic cells that have accumulated mutations, leading to altered phenotype and escape from homeostatic regulation. Malignancies arise through the accumulation of somatic mutations and selection of dominant clones. High-throughput sequencing technology allows for quantifying subclonal evolutionary dynamics in cancer. Understanding cancer evolutionary trajectories can inform tumorigenesis mechanisms and guide personalized treatment strategies.
JOURNAL OF MOLECULAR EVOLUTION
(2023)
Article
Clinical Neurology
Guy Helman, Parand Zarekiani, Samantha A. M. Tromp, Ashley Andrews, Lorenzo D. Botto, Joshua L. Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith-Hicks, Giovanna Vaula, Michel A. A. P. Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J. Taft, Cas Simons, Marianna Bugiani, Taco W. Kuijpers, Marjo S. van der Knaap
Summary: This study reports on 7 unrelated patients who exhibited leukoencephalopathy with calcifications and were found to have heterozygous de novo gain-of-function variants in the NOTCH1 gene. Immunologic profiling showed increased expression of CSF IP-10, a cytokine downstream of NOTCH1 signaling. Autopsy revealed extensive leukoencephalopathy and microangiopathy with vascular calcifications. These findings suggest that heterozygous gain-of-function variants in the NOTCH1 gene lead to chronic CNS inflammatory response, resulting in calcifying microangiopathy with leukoencephalopathy.
ANNALS OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Eric Minwei Liu, Alexander Martinez-Fundichely, Rajesh Bollapragada, Maurice Spiewack, Ekta Khurana
Summary: CNCDatabase is a database developed by Cornell University that contains detailed information on predicted non-coding drivers from 1111 protein-coding genes and 90 non-coding RNAs in 32 cancer types. It serves as a valuable resource for researchers to explore the pathological role of non-coding alterations in human cancers.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Oncology
Nathan D. Seligson, Joy Tang, Dexter X. Jin, Monica P. Bennett, Julia A. Elvin, Kiley Graim, John L. Hays, Sherri Z. Millis, Wayne O. Miles, James L. Chen
Summary: Leiomyosarcoma (LMS) is a rare, aggressive mesenchymal tumor associated with genomic alterations, particularly in BRCA2. However, unlike carcinomas, there is no overlap with previously published gLOH-associated genes in LMS. Early stage LMS tumors with high gLOH scores have a longer disease-free interval following resection. This suggests that gLOH-LMS is driven by different genomic signals.
NPJ PRECISION ONCOLOGY
(2022)
Article
Multidisciplinary Sciences
Wenjing Li, Xiaoyang Gu, Chunhong Liu, Yanyan Shi, Pan Wang, Na Zhang, Rui Wu, Liang Leng, Bingteng Xie, Chen Song, Mo Li
Summary: Mutations in the BARD1 gene have been identified as risk factors in breast and ovarian cancers. Here the authors reveal a synergetic effect between the occurance of two cis mutations in the BARD1 gene affecting the cellular DNA damage response and consequently tumorigenesis.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Sheri Harari, Maayan Tahor, Natalie Rutsinsky, Suzy Meijer, Danielle Miller, Oryan Henig, Ora Halutz, Katia Levytskyi, Ronen Ben-Ami, Amos Adler, Yael Paran, Adi Stern
Summary: In immunocompromised patients with chronic SARS-CoV-2 infection, adaptive evolution occurs and some mutations may lead to the emergence of variants of concern. However, certain mutations associated with global transmission are absent in chronic infections. The study also found a strong correlation between viral rebound and antibody evasion. The findings suggest a tradeoff between antibody evasion and transmissibility, highlighting the importance of monitoring chronic infections for understanding the emergence of variants of concern.
Article
Cell Biology
Neali Armstrong, Claire M. Storey, Sarah E. Noll, Katherine Margulis, Myat Han Soe, Haixia Xu, Benjamin Yeh, Lauren Fishbein, Electron Kebebew, Brooke E. Howitt, Richard N. Zare, Julien Sage, Justin P. Annes
Summary: Inherited pathogenic succinate dehydrogenase (SDHx) gene mutations cause hereditary pheochromocytoma and paraganglioma tumor syndrome. However, accumulation of succinate and inhibition of 2-oxoglutarate-dependent dioxygenase are insufficient for tumor formation in pheochromocytoma, additional growth-regulatory pathway activation is required.
Review
Cell Biology
Fajuan Cheng, Bin Zheng, Shubin Si, Jianwei Wang, Guiting Zhao, Zhongshun Yao, Zhihong Niu, Wei He
Summary: Bladder cancer (BCa) is the most common malignancy of the urinary system. CircRNAs, a subtype of non-coding RNAs, play a crucial role in physiological and developmental processes. Dysregulated circRNAs associated with BCa contribute to abnormalities in biological, genetic, and epigenetic information.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Oriol Pich, Iker Reyes-Salazar, Abel Gonzalez-Perez, Nuria Lopez-Bigas
Summary: Positive selection signals can be used to identify genes that drive clonal hematopoiesis in hematopoietic stem cells. By analyzing samples from two large cancer genomics cohorts, we obtained a list of nearly 70 candidate genes with positive selection signals. This approach can discover new CH genes and validate known CH genes.
NATURE COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Kumar Rishabh, Soham Khadilkar, Aviral Kumar, Ishu Kalra, Alan Prem Kumar, Ajaikumar B. Kunnumakkara
Summary: Oral cancers have a high incidence and low survival rate in developing countries, highlighting the need for further research on their etiology, diagnosis, and treatment. MicroRNAs have been associated with various human diseases, including oral cancers, and could serve as potential candidates for functional markers to aid in differential diagnosis, prognosis, and development of novel therapeutic regimens.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Lei Liu, Tianyu Tao, Shihua Liu, Xia Yang, Xuwei Chen, Jiaer Liang, Ruohui Hong, Wenting Wang, Yi Yang, Xiaoyi Li, Youhong Zhang, Quanfeng Li, Shujun Liang, Haocheng Yu, Yun Wu, Xinyu Guo, Yan Lai, Xiaofan Ding, Hongyu Guan, Jueheng Wu, Xun Zhu, Jie Yuan, Jun Li, Shicheng Su, Mengfeng Li, Xiuyu Cai, Junchao Cai, Han Tian
Summary: The study reveals that the positive feedback loop between RFC4 and NICD1 plays a critical role in linking NSCLC metastasis and stemness properties, with potential therapeutic and diagnostic/prognostic implications for NSCLC therapy.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Shailendra Kumar Gangwar, Aviral Kumar, Sandra Jose, Mohammed S. Alqahtani, Mohamed Abbas, Gautam Sethi, Ajaikumar B. Kunnumakkara
Summary: Oral cancer is a global concern and targeting nuclear receptors could be a potential strategy for the prevention and treatment of oral malignancies.
Article
Ergonomics
Jane Seeley, Hayley Hamilton, Evelyn Vingilis
Summary: This study investigates the association between driver licensure status in youth and conventional, health-enhancing behaviors or unconventional, health-compromising behaviors. The results suggest that obtaining a driver's licence is associated with both conventional behaviors, such as academic achievement and employment, as well as problem behaviors like alcohol use and binge drinking among youth.
ACCIDENT ANALYSIS AND PREVENTION
(2021)
Article
Oncology
Jiajia Zhang, Zhicheng Ji, Justina X. Caushi, Margueritta El Asmar, Valsamo Anagnostou, Tricia R. Cottrell, Hok Yee Chan, Prerna Suri, Haidan Guo, Taha Merghoub, Jamie E. Chaft, Joshua E. Reuss, Ada J. Tam, Richard L. Blosser, Mohsen Abu-Akeel, John-William Sidhom, Ni Zhao, Jinny S. Ha, David R. Jones, Kristen A. Marrone, Jarushka Naidoo, Edward Gabrielson, Janis M. Taube, Victor E. Velculescu, Julie R. Brahmer, Franck Housseau, Matthew D. Hellmann, Patrick M. Forde, Drew M. Pardoll, Hongkai Ji, Kellie N. Smith
CLINICAL CANCER RESEARCH
(2020)
Review
Medical Laboratory Technology
Alessandro Leal, David Sidransky, Mariana Brait
CLINICAL CHEMISTRY
(2020)
Article
Multidisciplinary Sciences
Alessandro Leal, Nicole C. T. van Grieken, Doreen N. Palsgrove, Jillian Phallen, Jamie E. Medina, Carolyn Hruban, Mark A. M. Broeckaert, Valsamo Anagnostou, Vilmos Adleff, Daniel C. Bruhm, Jenna Canzoniero, Jacob Fiksel, Marianne Nordsmark, Fabienne A. R. M. Warmerdam, Henk M. W. Verheul, Dick Johan van Spronsen, Laurens Beerepoot, Maud M. Geenen, Johanneke E. A. Portielje, Edwin P. M. Jansen, Johanna van Sandick, Elma Meershoek-Klein Kranenbarg, Hanneke W. M. van Laarhoven, Donald L. van der Peet, Cornelis J. H. van de Velde, Marcel Verheij, Remond Fijneman, Robert B. Scharpf, Gerrit A. Meijer, Annemieke Cats, Victor E. Velculescu
NATURE COMMUNICATIONS
(2020)
Article
Oncology
Xiaoshan M. Shao, Rohit Bhattacharya, Justin Huang, I. K. Ashok Sivakumar, Collin Tokheim, Lily Zheng, Dylan Hirsch, Benjamin Kaminow, Ashton Omdahl, Maria Bonsack, Angelika B. Riemer, Victor E. Velculescu, Valsamo Anagnostou, Kymberleigh A. Pagel, Rachel Karchin
CANCER IMMUNOLOGY RESEARCH
(2020)
Article
Oncology
Sakibul Huq, Joshua Casaos, Riccardo Serra, Michael Peters, Yuanxuan Xia, Andy S. Ding, Jeff Ehresman, Jayanidhi N. Kedda, Manuel Morales, Noah L. Gorelick, Tianna Zhao, Wataru Ishida, Alexander Perdomo-Pantoja, Arba Cecia, Chenchen Ji, Ian Suk, David Sidransky, Mariana Brait, Henry Brem, Nicolas Skuli, Betty Tyler
MOLECULAR CANCER THERAPEUTICS
(2020)
Article
Multidisciplinary Sciences
Hyoung Kim, Haineng Xu, Erin George, Dorothy Hallberg, Sushil Kumar, Veena Jagannathan, Sergey Medvedev, Yasuto Kinose, Kyle Devins, Priyanka Verma, Kevin Ly, Yifan Wang, Roger A. Greenberg, Lauren Schwartz, Neil Johnson, Robert B. Scharpf, Gordon B. Mills, Rugang Zhang, Victor E. Velculescu, Eric J. Brown, Fiona Simpkins
NATURE COMMUNICATIONS
(2020)
Meeting Abstract
Oncology
S. Schraa, K. Van Rooijen, D. V. D. Kruijssen, C. Rubio Alarcon, J. Phallen, M. Sausen, J. Simmons, V. Coupe, H. Van Grevenstein, S. Elias, H. Verkooijen, L. Bosch, D. Van Den Broek, G. Meijer, V. Velculescu, R. Fijneman, G. Vink, M. Koopman
ANNALS OF ONCOLOGY
(2020)
Meeting Abstract
Oncology
V. K. Lam, R. Hales, J. L. Feliciano, K. R. Voong, E. Shin, K. Smith, V. Anagnostou, V. Velculescu, E. Thompson, C. Sears, D. Pardoll, H. Rodavia, H. Schneider, C. Hu, A. Amjad, P. Guerrieri, B. A. Jobe, A. H. Zaidi, R. J. Kelly
ANNALS OF ONCOLOGY
(2020)
Article
Oncology
S. J. Schraa, K. L. van Rooijen, D. E. W. van der Kruijssen, C. Rubio Alarcon, J. Phallen, M. Sausen, J. Simmons, V. M. H. Coupe, W. M. U. van Grevenstein, S. Elias, H. M. Verkooijen, M. M. Lacle, L. J. W. Bosch, D. van den Broek, G. A. Meijer, V. E. Velculescu, R. J. A. Fijneman, G. R. Vink, M. Koopman
Article
Oncology
Catherine S. Grasso, Jennifer Tsoi, Mykola Onyshchenko, Gabriel Abril-Rodriguez, Petra Ross-Macdonald, Megan Wind-Rotolo, Ameya Champhekar, Egmidio Medina, Davis Y. Torrejon, Daniel Sanghoon Shin, Phuong Tran, Yeon Joo Kim, Cristina Puig-Saus, Katie Campbell, Agustin Vega-Crespo, Michael Quist, Christophe Martignier, Jason J. Luke, Jedd D. Wolchok, Douglas B. Johnson, Bartosz Chmielowski, Stephen Hodi, Shailender Bhatia, William Sharfman, Walter J. Urba, Craig L. Slingluff, Adi Diab, John B. A. G. Haanen, Salvador Martin Algarra, Drew M. Pardoll, Valsamo Anagnostou, Suzanne L. Topalian, Victor E. Velculescu, Daniel E. Speiser, Anusha Kalbasi, Antoni Ribas
Article
Biochemistry & Molecular Biology
Masamichi Hayashi, Elisa Guida, Yoshikuni Inokawa, Rachel Goldberg, Leonardo O. Reis, Akira Ooki, Manohar Pilli, Pritam Sadhukhan, Juhyung Woo, Woonyoung Choi, Evgeny Izumchenko, Leonel Maldonado Gonzalez, Luigi Marchionni, Alex Zhavoronkov, Mariana Brait, Trinity Bivalacqua, Alexander Baras, George J. Netto, Wayne Koch, Anju Singh, Mohammad O. Hoque
Article
Oncology
Yasmin Ghantous, Aysar Nashef, David Sidransky, Murad Abdelraziq, Kutaiba Alkeesh, Shareef Araidy, Wayne Koch, Mariana Brait, Imad Abu El-Naaj
Summary: This study retrospectively assessed the prognostic and clinical implications of the eighth edition of the TNM staging system in oral cancer treatment. The results demonstrate that incorporating depth of invasion and extranodal extension into staging can provide more accurate prognostic evaluation for patients and determine the need for adjuvant therapy.
Meeting Abstract
Oncology
Yasuto Kinose, Hyoung Kim, Haineng Xu, Sergey Medvedev, Erin George, Sarah Gitto, Margaret Whicker, Dorothy Hallberg, Lauren Schwartz, Gordon Mills, Victor E. Velculescu, Tian-Li Wang, Ronny Drapkin, Fiona Simpkins
CLINICAL CANCER RESEARCH
(2020)
Meeting Abstract
Oncology
Kristen A. Marrone, Valsamo Anagnostou, Michael J. Topper, Kellie Smith, Jiajia Zhang, Elisabeth Prophet, Joanne Reimer, Margaret Fitzpatrick, Victor Velculescu, Patrick Forde, Christine Hann, Ronan Kelly, David Ettinger, Cynthia Zahnow, Jorge Rivera, Barbara Gitlitz, Drew Pardoll, Stephen Baylin, Julie Brahmer
CANCER IMMUNOLOGY RESEARCH
(2020)
Meeting Abstract
Oncology
Xiaoshan M. Shao, Rohit Bhattacharya, Justin Huang, Ashok Sivakumar, Collin Tokheim, Lily Zheng, Dylan Hirsch, Ben Kaminow, Ashton Omdahl, Maria Bonsack, Angelika B. Riemer, Victor E. Velculescu, Valsamo Anagnostou, Kymberleigh Pagel, Rachel Karchin
CANCER IMMUNOLOGY RESEARCH
(2020)