Article
Oncology
Arian Lundberg, Meng Zhang, Rahul Aggarwal, Haolong Li, Li Zhang, Adam Foye, Martin Sjostrom, Jonathan Chou, Kevin Chang, Thaidy Moreno-Rodriguez, Raunak Shrestha, Avi Baskin, Xiaolin Zhu, Alana S. Weinstein, Noah Younger, Joshi J. Alumkal, Tomasz M. Beer, Kim N. Chi, Christopher P. Evans, Martin Gleave, Primo N. Lara, Rob E. Reiter, Matthew B. Retting, Owen N. Witte, Alexander W. Wyatt, Felix Y. Feng, Eric J. Small, David A. Quigley
Summary: This study comprehensively characterized treatment-emergent mCRPC by integrating different sequencing techniques and found that AR-/NE- tumors were clinically and molecularly distinct with the shortest survival. In addition, the study identified CHD7 amplification and PTEN loss in these tumors, and linked elevated CHD7 expression to methylation changes in candidate enhancers. The study also revealed KLF5 as a driver of the AR-/NE- phenotype and its activity was linked to RB1 loss.
Article
Oncology
Binghao Li, Hao Qu, Jing Zhang, Weibo Pan, Meng Liu, Xiaobo Yan, Xin Huang, Xuexin He, Dong Lin, Sisi Liu, Ruting Guan, Yong Wu, Qiuxiang Ou, Hua Bao, Youbin Xu, Xue Wu, Yang Shao, Nong Lin
Summary: This study identified clinically relevant kinase fusions in 1162 out of 17,442 Chinese lung cancer patients, providing valuable evidence for therapeutic decision making. The research also showed that kinase fusions play a dual role in lung cancer, both driving oncogenesis and serving as acquired resistance mechanisms to kinase inhibitors.
NPJ PRECISION ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Ibrahim O. Alanazi, Salman F. Alamery, Esmaeil Ebrahimie, Manijeh Mohammadi-Dehcheshmeh
Summary: This study profiles splice-disrupt genomic variants and their target genes in different types of prostate cancer, revealing important cancer-associated functions. The findings suggest that these variants could serve as potential diagnostic and prognostic markers for prostate cancer progression and metastasis.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Mahdieh Labani, Amin Beheshti, Ahmadreza Argha, Hamid Alinejad-Rokny
Summary: Prostate cancer is highly prevalent and genomic alterations play a key role in its development and progression. In this study, an integrative analysis pipeline was used to identify 646 putative regulatory variants in prostate cancer, of which 30 significantly affected the expression of protein-coding genes. These variants could potentially impact 131 coding and non-coding genes, many of which are involved in disease-related pathways with targeted treatment options already available. Additionally, non-coding RNAs were identified as potential enhancer elements for certain protein-coding genes. Overall, this study provides a comprehensive map of genomic variants in prostate cancer and their potential contribution to the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Carlos Martinez-Ruiz, James R. M. Black, Clare Puttick, Mark Hill, Jonas Demeulemeester, Elizabeth Larose Cadieux, Kerstin Thol, Thomas Jones, Selvaraju Veeriah, Cristina Naceur-Lombardelli, Antonia Toncheva, Paulina Prymas, Andrew Rowan, Sophia Ward, Laura Cubitt, Foteini Athanasopoulou, Oriol Pich, Takahiro Karasaki, David Moore, Roberto Salgado, Emma Colliver, Carla I. Castignani, Michelle Dietzen, Ariana Huebner, Maise Al Bakir, Miljana G. Tanic, Thomas B. K. Watkins, Emilia Lim, Ali Al-Rashed, Danny Lang, James Clements, Daniel J. Cook, Rachel Rosenthal, Gareth Wilson, Alexander G. Frankell, Sophie de Carne Trecesson, Philip East, Nnennaya Kanu, Kevin Litchfield, Nicolai Birkbak, Allan Hackshaw, Stephan Beck, Peter Van Loo, Mariam Jamal-Hanjani, Charles Swanton, Nicholas McGranahan
Summary: In this study, intratumour transcriptomic diversity in non-small cell lung cancer tumours was investigated using paired whole-exome and RNA sequencing data. It was found that the transcriptome plays a major role in driving intratumour heterogeneity, lung cancer evolution, and metastasis. The study also revealed the involvement of allele-specific expression and RNA-editing enzymes in these processes.
Article
Genetics & Heredity
Giovana Miranda Vieira, Laura Patricia Albarello Gellen, Diana Feio da Veiga Borges Leal, Lucas Favacho Pastana, Lui Wallacy Morikawa Souza Vinagre, Vitoria Teixeira Aquino, Marianne Rodrigues Fernandes, Paulo Pimentel de Assumpcao, Rommel Mario Rodriguez Burbano, Sidney Emanuel Batista dos Santos, Ney Pereira Carneiro dos Santos
Summary: This study aims to investigate the susceptibility and severity of prostate cancer in different populations by correlating genetic variants with epidemiological data. The results reveal 12 genetic variants correlated with epidemiological data in different ethnic groups, with 10 variants positively correlated with mortality rates and 7 variants positively correlated with incidence rates.
Article
Biochemistry & Molecular Biology
Gustavo A. Toma, Natalia dos Santos, Rodrigo dos Santos, Petr Rab, Rafael Kretschmer, Tariq Ezaz, Luiz A. C. Bertollo, Thomas Liehr, Fabio Porto-Foresti, Terumi Hatanaka, Alongklod Tanomtong, Ricardo Utsunomia, Marcelo B. Cioffi
Summary: The study investigated the karyotypes of different color phenotypes in Scleropages formosus using molecular cytogenetic techniques. The results revealed population genetic structure and microstructure differences in the karyotypes of the color phenotypes, but did not conclusively support the hypothesis of discrete lineages or evolutionary units among them.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Konrad H. Stopsack, Xiaofeng A. Su, J. Bailey Vaselkiv, Rebecca E. Graff, Ericka M. Ebot, Andreas Pettersson, Rosina T. Lis, Michelangelo Fiorentino, Massimo Loda, Kathryn L. Penney, Tamara L. Lotan, Lorelei A. Mucci
Summary: The most common event in primary prostate cancer is the fusion between TMPRSS2 and ERG genes. Non-ERG ETS fusions in tumors show genomic similarity with ERG fusions, particularly in the regulation of metabolic pathways.
MOLECULAR CANCER RESEARCH
(2023)
Article
Chemistry, Multidisciplinary
Joslyn Quick, Nancy Dos Santos, Miffy H. Y. Cheng, Nisha Chander, Cedric A. Brimacombe, Jayesh Kulkarni, Roy van der Meel, Yuen Yi C. Tam, Dominik Witzigmann, Pieter R. Cullis
Summary: This study explores the use of RNA interference to target a universally conserved region of all androgen receptor splice variants for cleavage and degradation, thereby eliminating protein level resistance mechanisms. Through testing five siRNA sequences designed against exon 1 of the AR mRNA, it was found that some induced potent knockdown of full-length and truncated variant ARs in the 22Rv1 human prostate cancer cell line.
JOURNAL OF CONTROLLED RELEASE
(2022)
Review
Oncology
Ciara S. McNevin, Karen Cadoo, Anne-Marie Baird, Pierre Murchan, Orla Sheils, Ray McDermott, Stephen Finn
Summary: Studies have shown that prostate cancer patients with BRCA2/BRCA1 genetic aberrations are more likely to have worse disease and prognosis. BRCA2 mutation confers the highest risk for prostate cancer in men (8.6 fold in men & LE;65 years). While BRCA genes have garnered significant research attention, their role in the clinical assessment and treatment of prostate cancer remains complex.
Article
Multidisciplinary Sciences
Wenwen Wang, Yujia Yang, Suxu Tan, Tao Zhou, Yang Liu, Changxu Tian, Lisui Bao, De Xing, Baofeng Su, Jinhai Wang, Yu Zhang, Shikai Liu, Huitong Shi, Dongya Gao, Rex Dunham, Zhanjiang Liu
Summary: The X and Y chromosomes of channel catfish have the same gene contents. The X-borne hydin-1 gene is silenced, while the Y-borne hydin-1 gene is expressed, resulting in monoallelic expression of hydin-1 responsible for sex determination, similar to genomic imprinting. Treatment with a methylation inhibitor, 5-aza-dC, erases the epigenetic marks and causes sex reversal.
Article
Biotechnology & Applied Microbiology
Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katherine E. Miller, Tracy A. Bedrosian, Kristen Leraas, Elizabeth A. Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R. Boue, Jeffrey R. Leonard, Jonathan L. Finlay, Mohamed S. Abdelbaki, Diana S. Osorio, Selene C. Koo, Daniel C. Koboldt, Alex H. Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrozek, Vincent Magrini, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Peter White
Summary: The EnFusion pipeline utilizes seven fusion calling algorithms to increase the accuracy of identifying clinically relevant fusions in pediatric cancer. By combining ensemble fusion-calling pipeline with a knowledge-based filtering strategy, it accurately identifies driver fusions in pediatric cancer, contributing evidence to diagnosis and guiding targeted therapies where appropriate.
Article
Oncology
Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, Lucia Pedace, Lorena Travaglini, Simone Pizzi, Marco Andreani, Evelina Miele, Federica Invernizzi, Chiara Reale, Celeste Panteghini, Maria Iascone, Marcello Niceta, Ralitza H. Gavrilova, Laura Schultz-Rogers, Emanuele Agolini, Maria Francesca Bedeschi, Paolo Prontera, Matteo Garibaldi, Serena Galosi, Vincenzo Leuzzi, Paola Soliveri, Rory J. Olson, Giovanna S. Zorzi, Barbara M. Garavaglia, Marco Tartaglia, Bekim Sadikovic
Summary: We characterized the genome-wide peripheral blood DNA methylation profiles of 18 patients with pathogenic and unclassified KMT2B variants. We demonstrated a distinctive DNA hypermethylation pattern associated with DYT28, providing an epigenetic signature for this disorder enabling accurate diagnosis and suggesting potential therapeutic approaches.
CLINICAL EPIGENETICS
(2021)
Review
Biochemistry & Molecular Biology
Su H. Park, Ka-Wing Fong, Ezinne Mong, M. Cynthia Martin, Gary E. Schiltz, Jindan Yu
Summary: EZH2, a core subunit of PRC2, plays a crucial role in regulating cellular identity and stem cell maintenance through its histone methyltransferase activity. Dysregulation of EZH2 is frequently observed in various cancers, including prostate cancer. Despite some studies reporting its tumor suppressive and oncogenic functions, there are discrepancies in EZH2 and H3K27 methylation, and enzymatic inhibitors have shown limited efficacy in prostate cancer.
Article
Endocrinology & Metabolism
Adrian Acuna-Ruiz, Carlos Carrasco-Lopez, Pilar Santisteban
Summary: Thyroid cancer, the most common malignancy of the endocrine system, has seen increasing incidence. Recent advances in genomics and epigenomics have provided new insights into the development and progression of thyroid cancer, offering opportunities for further research and clinical treatment strategies.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
