Article
Oncology
Philipp Jurmeister, Niklas Wrede, Inga Hoffmann, Claudia Vollbrecht, Daniel Heim, Michael Hummel, Peggy Wolkenstein, Ines Koch, Verena Heynol, Wolfgang Daniel Schmitt, Anne Thieme, Daniel Teichmann, Christine Sers, Andreas von Deimling, Julia Cara Thierauf, Maximilian von Laffert, Frederick Klauschen, David Capper
Summary: Cutaneous, ocular, and mucosal melanomas are histologically indistinguishable tumors driven by different genetic alterations. DNA methylation analysis can separate uveal melanomas from melanomas of other primary sites, while mucosal, conjunctival, and cutaneous melanomas share a common global DNA methylation profile. However, differences in promoter methylation frequencies of specific cancer-related genes and site-specific enrichment for chromosomal changes and genetic mutations exist in melanomas of different locations.
JOURNAL OF PATHOLOGY
(2022)
Article
Multidisciplinary Sciences
Yuxuan Wang, Christopher Douville, Joshua D. Cohen, Austin Mattox, Sam Curtis, Natalie Silliman, Maria Popoli, Janine Ptak, Lisa Dobbyn, Nadine Nehme, Jonathan C. Dudley, Mahmoud Summers, Ming Zhang, Lan T. Ho-Pham, Bich N. H. Tran, Thach S. Tran, Tuan Nguyen, Chetan Bettegowda, Nickolas Papadopoulos, Kenneth W. Kinzlera, Bert Vogelsteina
Summary: The analysis of cell-free DNA (cfDNA) from plasma has great potential for early cancer detection. A new method called MethylSaferSeqS allows the evaluation of DNA molecules for changes in sequence, methylation, or copy number, increasing the sensitivity of cancer detection assays. The method involves copying both strands of each DNA-barcoded molecule and separating the original strands from the copied strands to obtain epigenetic and genetic alterations. By applying this method to plasma samples from individuals with different types of cancer, the study successfully detected expected patterns of mutations, copy number alterations, and methylation. MethylSaferSeqS has the potential to address various genetics and epigenetics-related questions.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
Ba Van Vu, Quyet Nguyen, Yuki Kondo-Takeoka, Toshiki Murata, Naoki Kadotani, Giang Thi Nguyen, Takayuki Arazoe, Shuichi Ohsato, Hitoshi Nakayashiki
Summary: In fungi, homologous recombination and RNA silencing mechanisms cooperatively regulate the de novo DNA methylation of transposable elements such as MAGGY, with RecA domain-containing proteins and uncharacterized Ddnm1 protein forming complexes to mediate the process. Mutants of specific RNA silencing components in Pyricularia oryzae show impaired copy number-dependence of MAGGY methylation, suggesting a physical interaction between RNA silencing machinery and homologous recombination components.
COMMUNICATIONS BIOLOGY
(2021)
Article
Biochemical Research Methods
Pedro Blecua, Veronica Davalos, Izar de Villasante, Angelika Merkel, Eva Musulen, Laia Coll-SanMartin, Manel Esteller
Summary: This article presents a strategy to predict somatic copy number alterations (SCNA) in personalized cancer medicine using high-throughput genomic technologies. The strategy improves the prediction by incorporating tumor purity and dynamic thresholding, and has been experimentally validated.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Biochemistry & Molecular Biology
Donatella Conconi, Serena Redaelli, Andrea Alberto Lissoni, Chiara Cilibrasi, Patrizia Perego, Eugenio Gautiero, Elena Sala, Mariachiara Paderno, Leda Dalpra, Fabio Landoni, Marialuisa Lavitrano, Gaia Roversi, Angela Bentivegna
Summary: The study analyzed the genomic and epigenomic profiles of uterine smooth muscle tumors, finding similarities between STUMPs and LMSs. Some genes with potential prognostic value, previously not associated with STUMP, were identified. Methylation data showed promise, especially in samples with divergent profiles, and Gene Ontology analysis highlighted cancer genes that may serve as prognostic markers in the future.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Wen Wang, Hao Bo, Yumei Liang, Guoli Li
Summary: This study demonstrates that DNA copy number amplification and hypomethylation are positively correlated with LINC00467 expression in LUAD. Moreover, DNA copy number amplification is significantly associated with distant metastasis, immune infiltration, and poor survival in LUAD. Knockdown of LINC00467 affects the expression of a panel of microRNAs in LUAD cells, which in turn impacts the target genes involved in multiple biological processes. In addition, a ceRNA network specific to LINC00467 in LUAD, consisting of two microRNAs and five mRNAs, suggests that BARX2 and BCL9 may serve as potential prognostic biomarkers for LUAD patients.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Oncology
Juergen Hench, Daniela Mihic-Probst, Abbas Agaimy, Stephan Frank, Peter Meyer, Claus Hultschig, Sara Simi, Lucia Alos, Thiagarajah Balamurugan, Willeke Blokx, Francesca Bosisio, Rocco Cappellesso, Klaus Griewank, Eva Hadaschik, Leon C. van Kempen, Werner Kempf, Maria Lentini, Luca Mazzucchelli, Gaetana Rinaldi, Piotr Rutkowski, Dirk Schadendorf, Bastian Schilling, Anna Szumera-Cieckiewicz, Joost van den Oord, Mario Mandala, Daniela Massi
Summary: The purpose of this study was to investigate the clinical, histopathological, and molecular features of dedifferentiated melanoma (DedM). Methylation signature (MS) and copy number profiling (CNP) were carried out in a subgroup of cases. The study found that DedM commonly presents with unclassified pleomorphic, spindle cell, or small round cell morphology, resembling undifferentiated soft tissue sarcoma. Methylation analysis showed some samples retained a melanoma-like signature, while others exhibited an epigenetic shift towards a mesenchymal/sarcoma-like profile.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Yakun Wang, Xuan Wang, Qiaoming Long, Yuanwu Liu, Tao Yin, Inna Sirota, Fazheng Ren, Zhenglong Gu, Junjie Luo
Summary: The study in mice found that perturbation of mitochondrial function around the periconceptional period leads to gene expression regulation, affecting fetal liver lipid metabolism and adult-onset diseases.
Article
Biochemical Research Methods
Qiang Wei, Chao Jin, Yang Wang, Shanshan Guo, Xu Guo, Xiaonan Liu, Jiaze An, Jinliang Xing, Bingshan Li
Summary: This study introduces a new computational method that combines methylation and copy number aberrations (CNAs) information from whole-genome bisulfite sequencing (WGBS) data to quantify low tumor content in cell-free DNA (cfDNA). The results show that the method can effectively enrich circulating tumor DNA (ctDNA) and accurately detect CNAs. Additionally, the study identifies shared hypomethylation regions among different cancer types, demonstrating the potential of the method for pan-cancer early detection.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Oncology
Violeta Larios-Serrato, Jose-Dario Martinez-Ezquerro, Hilda-Alicia Valdez-Salazar, Javier Torres, Margarita Camorlinga-Ponce, Patricia Pina-Sanchez, Martha-Eugenia Ruiz-Tachiquin
Summary: This study aimed to reveal shared and unique copy number alterations (CNA) and EMT genes associated with cancer in different types of gastric cancer (GC) in Mexican patients through whole-genome analysis. The findings provided potential biomarkers for early screening and treatment of GC.
MOLECULAR MEDICINE REPORTS
(2022)
Article
Oncology
Aviel Iluz, Myriam Maoz, Nir Lavi, Hanna Charbit, Omer Or, Noam Olshinka, Jonathan Abraham Demma, Mohammad Adileh, Marc Wygoda, Philip Blumenfeld, Masha Gliner-Ron, Yusef Azraq, Joshua Moss, Tamar Peretz, Amir Eden, Aviad Zick, Iris Lavon
Summary: This study aimed to classify sarcomas by analyzing methylation signatures obtained from low-coverage whole-genome sequencing, and detecting copy-number alterations. The methylation-based classifier was customized using a reference set and applied in the nanoDx pipeline, while copy-number alterations were detected using a designated R package. Out of the 23 suspected samples, 14 were classified as reported in the pathology results, indicating the potential for accurate sarcoma classification using nanopore sequencing.
Article
Multidisciplinary Sciences
Huili Xue, Aili Yu, Na Lin, Xuemei Chen, Min Lin, Yan Wang, Hailong Huang, Liangpu Xu
Summary: The etiopathogenesis of fetal ventriculomegaly is not well understood. This study investigated the correlations between fetal ventriculomegaly and chromosome abnormalities, finding higher detection rates of clinically significant CNVs in non-isolated ventriculomegaly compared to isolated cases. Additionally, SNP arrays were found to effectively identify CNVs and increase the abnormal chromosomal detection rate, particularly in cases of ventriculomegaly accompanied by CNS anomalies.
SCIENTIFIC REPORTS
(2021)
Review
Medicine, Research & Experimental
Siti Muslihah Abd Radzak, Siti Zulaikha Nashwa Mohd Khair, Farizan Ahmad, Azim Patar, Zamzuri Idris, Abdul Aziz Mohamed Yusoff
Summary: Mitochondria play a critical role in cellular functions, and their quantity and composition have an impact on cellular pathways and diseases such as cancer. This review provides an overview of mtDNA copy number variations in human cancers and summarizes the existing knowledge on the regulation and machinery of mtDNA copy number.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2022)
Article
Cell Biology
Ana Onieva, Joan Martin, Daniel R. Cuesta-Aguirre, Violeta Planells, Marta Coronado-Zamora, Katrin Beyer, Tomas Vega, Jose Eugenio Lozano, Cristina Santos, Maria Pilar Aluja
Summary: This study evaluated the association between mtDNA mutations and mtDNA content with stroke risk. The results suggest that certain mtDNA mutations are associated with stroke risk, while mtDNA content is not significantly correlated with stroke risk. These findings reveal the potential role of mtDNA genetics in the pathogenesis of stroke.
Article
Neurosciences
James F. Lyon, Varshini Vasudevaraja, Kanish Mirchia, Jamie M. Walker, Robert J. Corona, Lawrence S. Chin, Ivy Tran, Matija Snuderl, Timothy E. Richardson, Mariano S. Viapiano
Summary: Glioblastoma (GBM) is the most common malignant primary central nervous system neoplasm in adults, with a universally poor prognosis. DNA methylation profiling has emerged as an important technique for classification of CNS tumors. This case highlights molecular diversity in GBM and demonstrates a novel use for methylation profiling in tracking tumor progression.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Matt Lechner, Volker H. Schartinger, Christopher D. Steele, Wen Long Nei, Marc Lucas Ooft, Liesa-Marie Schreiber, Christodoulos P. Pipinikas, Grace Tin-Yun Chung, Yuk Yu Chan, Feng Wu, Ka-Fai To, Chi Man Tsang, Wayne Pearce, Daniele Morelli, Martin Philpott, Liam Masterson, Reshma Nibhani, Graham Wells, Christopher G. Bell, Julia Koller, Susanne Delecluse, Yim Ling Yip, Jacklyn Liu, Cillian T. Forde, Martin D. Forster, Amrita Jay, Jozsef Dudas, Annika Krapp, Simon Wan, Christian Uprimny, Susanne Sprung, Johannes Haybaeck, Tim R. Fenton, Kerry Chester, Christina Thirlwell, Gary Royle, Teresa Marafioti, Rajeev Gupta, Sagung Rai Indrasari, Camelia Herdini, Mohd Afiq Mohd Slim, I. Indrawati, Liam Sutton, Renske Fles, Bing Tan, Joe Yeong, Amit Jain, Shuting Han, Haitao Wang, Kelvin S. H. Loke, Wan He, Ruilian Xu, Hongtao Jin, Zhiqiang Cheng, David Howard, Peter H. Hwang, Quynh-Thu Le, Joshua K. Tay, Robert B. West, Sai Wah Tsao, Tim Meyer, Herbert Riechelmann, Udo Oppermann, Henri-Jacques Delecluse, Stefan M. Willems, Melvin L. K. Chua, Pierre Busson, Kwok Wai Lo, Guido Wollmann, Nischalan Pillay, Bart Vanhaesebroeck, Valerie J. Lund
Summary: This study reveals that somatostatin receptor 2 is induced by the Epstein-Barr virus in nasopharyngeal carcinoma and plays a key role in the diagnosis, imaging, targeted therapies, and prognosis of the disease.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Subramanian Venkatesan, Mihaela Angelova, Clare Puttick, Haoran Zhai, Deborah R. Caswell, Wei-Ting Lu, Michelle Dietzen, Panagiotis Galanos, Konstantinos Evangelou, Roberto Bellelli, Emilia L. Lim, Thomas B. K. Watkins, Andrew Rowan, Vitor H. Teixeira, Yue Zhao, Haiquan Chen, Bryan Ngo, Lykourgos-Panagiotis Zalmas, Maise Al Bakir, Sebastijan Hobor, Eva Gronroos, Adam Pennycuick, Ersilia Nigro, Brittany B. Campbell, William L. Brown, Ayse U. Akarca, Teresa Marafioti, Mary Y. Wu, Michael Howell, Simon J. Boulton, Cosetta Bertoli, Tim R. Fenton, Robertus A. M. de Bruin, Apolinar Maya-Mendoza, Eric Santoni-Rugiu, Robert E. Hynds, Vassilis G. Gorgoulis, Mariam Jamal-Hanjani, Nicholas McGranahan, Reuben S. Harris, Sam M. Janes, Jirina Bartkova, Samuel F. Bakhoum, Jiri Bartek, Nnennaya Kanu, Charles Swanton
Summary: The study reveals that APOBEC3 genes are upregulated in breast and lung preinvasive lesions, and APOBEC3B exacerbates DNA replication stress to promote cellular diversity and chromosomal instability for early selection in cancer evolution.
Article
Oncology
Katharina Filipski, Michael Scherer, Kim N. Zeiner, Andreas Bucher, Johannes Kleemann, Philipp Jurmeister, Tabea Hartung, Markus Meissner, Karl H. Plate, Tim R. Fenton, Jorn Walter, Sascha Tierling, Bastian Schilling, Pia S. Zeiner, Patrick N. Harter
Summary: A novel machine learning classifier based on DNA methylation data was developed to predict therapy responses in patients with metastatic melanoma undergoing immune checkpoint inhibition. The classifier utilizes large-scale DNA methylation data analysis to help estimate treatment responses in patients.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2021)
Article
Oncology
Matt Lechner, Yoko Takahashi, Mario Turri-Zanoni, Jacklyn Liu, Nicholas Counsell, Mario Hermsen, Raman Preet Kaur, Tianna Zhao, Murugappan Ramanathan, Volker H. Schartinger, Oscar Emanuel, Sam Helman, Jordan Varghese, Jozsef Dudas, Herbert Riechelmann, Susanne Sprung, Johannes Haybaeck, David Howard, Nils Wolfgang Engel, Sarah Stewart, Laura Brooks, Jessica C. Pickles, Thomas S. Jacques, Tim R. Fenton, Luke Williams, Francis M. Vaz, Paul O'Flynn, Paul Stimpson, Simon Wang, S. Alam Hannan, Samit Unadkat, Jonathan Hughes, Raghav Dwivedi, Cillian T. Forde, Premjit Randhawa, Simon Gane, Jonathan Joseph, Peter J. Andrews, Gary Royle, Alessandro Franchi, Roberta Maragliano, Simonetta Battocchio, Helen Bewicke-Copley, Christodoulos Pipinikas, Amy Webster, Chrissie Thirlwell, Debbie Ho, Andrew Teschendorff, Tianyu Zhu, Christopher D. Steele, Nischalan Pillay, Bart Vanhaesebroeck, Ahmed Mohyeldin, Juan Fernandez-Miranda, Ki Wan Park, Quynh-Thu Le, Robert B. West, Rami Saade, R. Peter Manes, Sacit Bulent Omay, Eugenia M. Vining, Benjamin L. Judson, Wendell G. Yarbrough, Maddalena Sansovini, Nicolini Silvia, Ilaria Grassi, Alberto Bongiovanni, David Capper, Ulrich Schueller, Selvam Thavaraj, Ann Sandison, Pavol Surda, Claire Hopkins, Marco Ferrari, Davide Mattavelli, Vittori Rampinelli, Fabio Facchetti, Piero Nicolai, Paolo Bossi, Oswaldo A. Henriquez, Kelly Magliocca, C. Arturo Solares, Sarah K. Wise, Jose L. Llorente, Zara M. Patel, Jayakar Nayak, Peter H. Hwang, Peter D. Lacy, Robbie Woods, James P. O'Neill, Amrita Jay, Dawn Carnell, Martin D. Forster, Masaru Ishii, Nyall R. London, Diana M. Bell, Gary L. Gallia, Paolo Castelnuovo, Stefano Severi, Valerie J. Lund, Ehab Y. Hanna
Summary: This study provides a comprehensive analysis of olfactory neuroblastoma (ONB) and reports on the potential efficacy of SSTR2-targeting imaging and therapy. A retrospective analysis of 404 patients revealed the significance of dural infiltration, staging, and adjuvant radiotherapy in prognosis. SSTR2-targeted peptide-radionuclide receptor therapy showed promising results in metastatic cases.
EUROPEAN JOURNAL OF CANCER
(2022)
Review
Oncology
Matt Lechner, Jacklyn Liu, Liam Masterson, Tim R. Fenton
Summary: The incidence of HPV-positive oropharyngeal squamous cell carcinoma (OPSCC) is rapidly increasing, leading to ongoing research in treatment de-escalation and emerging therapies. There is a need to identify and validate diagnostic biomarkers for early detection of this disease.
NATURE REVIEWS CLINICAL ONCOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Simon C. Baker, Andrew S. Mason, Raphael G. Slip, Katie T. Skinner, Andrew Macdonald, Omar Masood, Reuben S. Harris, Tim R. Fenton, Manikandan Periyasamy, Simak Ali, Jennifer Southgate
Summary: Limited understanding of bladder cancer aetiopathology hampers progress in reducing incidence. This study provides missing mechanistic evidence linking reactivated BKPyV-infection to bladder cancer risk.
Article
Virology
Tim R. Fenton
CURRENT OPINION IN VIROLOGY
(2021)
Letter
Oncology
Matt Lechner, Jacklyn Liu, Liam Masterson, Tim R. Fenton
NATURE REVIEWS CLINICAL ONCOLOGY
(2022)
Article
Oncology
M. J. Melake, H. G. Smith, D. Mansfield, E. Davies, M. T. Dillon, A. C. Wilkins, E. C. Patin, M. Pedersen, R. Buus, A. A. Melcher, K. Thway, A. B. Miah, S. H. Zaidi, A. J. Hayes, T. R. Fenton, K. J. Harrington, M. McLaughlin
Summary: This study explores the immune contexture of sarcoma and identifies potential therapeutic targets using genomics and immunohistochemistry. The findings suggest that radioresistant sarcoma subtypes have higher transcript levels of immunotherapy targets. The study also reveals that 4-1BB and other costimulatory molecules can delineate distinct tumor immune profiles. Additionally, spatial analysis identifies a specific type of OX40+ regulatory T cells associated with tertiary lymphoid structures in sarcoma. These findings contribute to the understanding of sarcoma immunology and provide important insights for patient stratification and immunotherapies.
Article
Clinical Neurology
Matt Lechner, Yoko Takahashi, Mario Turri-Zanoni, Marco Ferrari, Jacklyn Liu, Nicholas Counsell, Davide Mattavelli, Vittorio Rampinelli, William Vermi, Davide Lombardi, Rami Saade, Ki Wan Park, Volker H. Schartinger, Alessandro Franchi, Carla Facco, Fausto Sessa, Simonetta Battocchio, Tim R. Fenton, Francis M. Vaz, Paul O'Flynn, David Howard, Paul Stimpson, Simon Wang, S. Alam Hannan, Samit Unadkat, Jonathan Hughes, Raghav Dwivedi, Cillian T. Forde, Premjit Randhawa, Simon Gane, Jonathan Joseph, Peter J. Andrews, Manas Dave, Jason C. Fleming, David Thomson, Tianyu Zhu, Andrew Teschendorff, Gary Royle, Christopher Steele, Joaquin E. Jimenez, Jan Laco, Eric W. Wang, Carl Snyderman, Peter D. Lacy, Robbie Woods, James P. O'Neill, Anirudh Saraswathula, Raman Preet Kaur, Tianna Zhao, Murugappan Ramanathan, Gary L. Gallia, Nyall R. London, Quynh-Thu Le, Robert B. West, Zara M. Patel, Jayakar V. Nayak, Peter H. Hwang, Mario Hermsen, Jose Llorente, Fabio Facchetti, Piero Nicolai, Paolo Bossi, Paolo Castelnuovo, Amrita Jay, Dawn Carnell, Martin D. Forster, Diana M. Bell, Valerie J. Lund, Ehab Y. Hanna
Summary: This study retrospectively analyzed clinical data from 505 cases of sinonasal mucosal melanoma (SNMM). It found that further stratifying the T3 stage by sinus involvement has a high predictive value for prognosis. Adjuvant radiotherapy can improve survival rates, and immune checkpoint inhibitors show potential benefits for the treatment of recurrent, persistent, or metastatic disease.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(2023)
Article
Multidisciplinary Sciences
Ankur Chakravarthy, Ian Reddin, Stephen Henderson, Cindy Dong, Nerissa Kirkwood, Maxmilan Jeyakumar, Daniela Rothschild Rodriguez, Natalia Gonzalez Martinez, Jacqueline McDermott, Xiaoping Su, Nagayasau Egawa, Christina S. Fjeldbo, Vilde Eide Skingen, Heidi Lyng, Mari Kylleso Halle, Camilla Krakstad, Afschin Soleiman, Susanne Sprung, Matt Lechner, Peter J. I. Ellis, Mark Wass, Martin Michaelis, Heidi Fiegl, Helga Salvesen, Gareth J. Thomas, John Doorbar, Kerry Chester, Andrew Feber, Tim R. Fenton
Summary: This study conducted a comprehensive analysis of 643 cervical squamous cell carcinomas (CSCC) from different regions and identified two subtypes with different prognosis. One subtype was associated with HPV16 and the other subtype was associated with HPV18. However, the prognosis difference cannot be solely attributed to HPV types. The C2 subtype showed distinct genomic alterations and immune-related differences, which may explain its shorter survival.
NATURE COMMUNICATIONS
(2022)
Article
Pharmacology & Pharmacy
Ian G. Reddin, Tim R. Fenton, Mark N. Wass, Martin Michaelis
Summary: This study reveals the high variability in anti-cancer drug testing, even among standardized experiments in a world-leading research environment. Awareness of this inherent variability will support realistic data interpretation and inspire research to improve data robustness.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Oncology
Isidro Cortes-Ciriano, Christopher D. Steele, Katherine Piculell, Alyaa Al-Ibraheemi, Vanessa Eulo, Marilyn M. Bui, Aikaterini Chatzipli, Brendan C. Dickson, Dana C. Borcherding, Andrew Feber, Alon Galor, Jesse Hart, Kevin B. Jones, Justin T. Jordan, Raymond H. Kim, Daniel Lindsay, Colin Miller, Yoshihiro Nishida, Paula Z. Proszek, Jonathan Serrano, Taylor Sundby, Jeffrey J. Szymanski, Nicole J. Ullrich, David Viskochil, Xia Wang, Matija Snuderl, Peter J. Park, Adrienne M. Flanagan, Angela C. Hirbe, Nischalan Pillay, David T. Miller
Summary: Malignant peripheral nerve sheath tumor (MPNST), a aggressive soft-tissue sarcoma, was found to be associated with biallelic inactivation of NF1, loss of CDKN2A or TP53, and inactivation of polycomb repressive complex 2 (PRC2). Tumor evolution pathways were determined based on genomic events and H3K27 trimethylation (H3K27me3) status. Somatic copy-number aberrations (SCNA) and H3K27me3 loss were identified as potential biomarkers for early diagnosis and prognosis prediction.
Article
Multidisciplinary Sciences
Shadi Basyuni, Gareth Nugent, Ashley Ferro, Eleanor Barker, Ian Reddin, Oliver Jones, Matt Lechner, Ben O'Leary, Terry Jones, Liam Masterson, Tim Fenton, Andrew Schache
Summary: This review examines the relationship between TP53 mutational status and survival in squamous cell carcinoma of the head and neck. The findings suggest that TP53 mutation is associated with worse overall survival, disease-specific survival, and disease-free survival in these patients.
SCIENTIFIC REPORTS
(2022)
Review
Biochemistry & Molecular Biology
Paolo Salomoni, Adrienne M. Flanagan, Lucia Cottone
Summary: The discovery of histone mutations in human neoplasms and developmental syndromes provides compelling evidence for the role of epigenetic perturbations in human disease. However, the mechanisms of action of these mutations are only partially understood. Additionally, cancer cells carrying oncohistones can modify the surrounding microenvironment to promote growth and alter differentiation trajectories.
CELL DEATH AND DIFFERENTIATION
(2023)