Article
Biochemistry & Molecular Biology
Vlad-Adrian Afrasanie, Mihai-Vasile Marinca, Bogdan Gafton, Teodora Alexa-Stratulat, Alexandra Rusu, Eliza-Maria Froicu, Daniel Sur, Cristian Virgil Lungulescu, Larisa Popovici, Andrei-Vlad Lefter, Irina Afrasanie, Anca-Viorica Ivanov, Lucian Miron, Cristina Rusu
Summary: In this study, the frequency, distribution, coexistence, and clinicopathological and molecular correlations of RAS, BRAF, PIK3CA, and TP53 mutations were investigated in 104 patients with metastatic colorectal cancer from Northeastern Romania. TP53 was the most frequently mutated gene (73.1%), followed by KRAS (45.2%) and PIK3CA (6.7%). The study provides novel insights into genetic variations specific to the population from Northeastern Romania and enables the development of genetic profiles in a developing country with limited access to specialized genetic tests.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Costel Stelian Brinzan, Mariana Aschie, Georgeta Camelia Cozaru, Mariana Deacu, Eugen Dumitru, Ionut Burlacu, Anca Mitroi
Summary: In this study, the mutation frequencies of genes in Romanian colorectal cancer patients were analyzed and compared with clinicopathological variables. The results showed correlations between these mutations and distant metastasis at diagnosis, MSI-H, proximal colon location, and well/moderately differentiated tumors. The findings of this study are generally consistent with data from other populations.
Article
Medical Laboratory Technology
Zohreh Mirzapoor . Abbasabadi, Dariush Hamedi Asl, Babak Rahmani, Rozhin Shahbadori, Sara Karami, Amir Peymani, Sara Taghizadeh, Fatemeh Samiee Rad
Summary: The limited genetic profile of colorectal cancer (CRC) patients in Iran, except for KRAS exon2 and BRAF V600F mutations, was investigated in this study. Mutations in KRAS, NRAS, BRAF, and PIK3CA were identified and their relationships with clinicopathological features of CRC were explored.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Medicine, General & Internal
Juanzi Zeng, Wenwei Fan, Jiaquan Li, Guowu Wu, Heming Wu
Summary: The study found that KRAS and NRAS gene mutations are associated with distant metastasis in colorectal cancer, while BRAF and PIK3CA gene mutations are associated with poor tumor differentiation. These results contribute to a better understanding of the relationship between clinicopathological characteristics and gene mutations in colorectal cancer patients.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Aleksandr S. Martianov, Natalia V. Mitiushkina, Anastasia N. Ershova, Darya E. Martynenko, Mikhail G. Bubnov, Priscilla Amankwah, Grigory A. Yanus, Svetlana N. Aleksakhina, Vladislav I. Tiurin, Aigul R. Venina, Aleksandra A. Anuskina, Yuliy A. Gorgul, Anna D. Shestakova, Mikhail A. Maidin, Alexey M. Belyaev, Liliya S. Baboshkina, Aglaya G. Iyevleva, Evgeny N. Imyanitov
Summary: This study analyzed the factors influencing the distribution of actionable genetic alterations in colorectal carcinomas. The study found that there were differences in the distribution of certain genetic alterations based on patients' age and gender. BRAF mutation frequency also showed geographic variation. In addition, a small fraction of CRCs had simultaneous alterations in more than one driver gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Tim Svenstrup Poulsen, Douglas Vinicius Nogueira Perez de Oliveira, Maiken Lise Marcker Espersen, Louise Laurberg Klarskov, Wojciech Skovrider-Ruminski, Estrid Hogdall
Summary: Mutations in the MAPK signalling genes KRAS, NRAS, and BRAF, as well as the PIK3CA gene, are routinely investigated in colorectal cancer diagnostics. Co-existing mutations in these genes were found in a small percentage of patients, with a higher frequency of BRAF mutations. Mismatch repair deficiency was present in 14.6% of cases, predominantly characterized by the lack of expression of MLH1 and PMS2 proteins.
Article
Oncology
Loetitia Favre, Justine Cohen, Julien Calderaro, Adrien Pecriaux, Cong-Trung Nguyen, Remi Bourgoin, Laura Larnaudie, Aurelie Dupuy, Marie Ollier, Emmanuele Lechapt, Ivan Sloma, Christophe Tournigand, Benoit Rousseau, Anais Pujals
Summary: Exonucleasic domain POLE (edPOLE) mutations are associated with a hypermutated tumor phenotype and may serve as a biomarker for response to immune checkpoint blockade in colorectal cancer. This study assessed the molecular characteristics of edPOLE-mutated tumors and found that they were more prevalent in microsatellite (MMR)-proficient young male patients with left-sided tumors harboring noncodon 12 KRAS mutation. Tumor mutational burden (TMB) and immune infiltrate analysis revealed high TMB and CD8(+) tumor-infiltrating lymphocyte (TIL) infiltration in edPOLE-mutated cases.
MOLECULAR ONCOLOGY
(2022)
Article
Medicine, General & Internal
Shen-Yi Lian, Lu-Xin Tan, Xin-Zhi Liu, Lu-Jing Yang, Ning-Ning Li, Qing Feng, Ping Wang, Yue Wang, Dong-Bo Qiao, Li-Xin Zhou, Ting-Ting Sun, Lin Wang, Ai-Wen Wu, Zhong-Wu Li
Summary: This study assessed the clinicopathological features and prognostic values of KRAS, NRAS, BRAF, and DNA mismatch repair status in colorectal cancer (CRC) in developing countries. The mutation frequencies of KRAS, NRAS, and BRAF were 41.7%, 1.6%, and 3.8%, respectively. KRAS mutations and deficient mismatch repair (dMMR) status were associated with aggressive biological behaviors and poor differentiation, while BRAF (V600E) mutations were associated with well-differentiated tumors. The dMMR status predicted longer overall survival in all CRC patients.
Article
Biochemistry & Molecular Biology
Ivo Gokmen, Ebru Tastekin, Nazan Demir, Erkan Ozcan, Fahri Akgul, Muhammed Bekir Hacioglu, Bulent Erdogan, Sernaz Topaloglu, Irfan Cicin
Summary: The aim of this study was to investigate the incidence, molecular patterns, and associations with clinical parameters of KRAS/NRAS and BRAF mutations in colorectal cancer. KRAS mutation was the most common, with KRAS G12D being the most common mutation pattern. BRAF(V600E) was the most common BRAF mutation. Furthermore, there were associations observed between these mutations and age, gender, and tumor localization.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Medicine, General & Internal
Aleksandra Bozyk, Pawel Krawczyk, Katarzyna Reszka, Kinga Krukowska, Agnieszka Kolak, Slawomir Mandziuk, Kamila Wojas-Krawczyk, Rodryg Ramlau, Janusz Milanowski
Summary: This study found that mutations in the KRAS, NRAS and BRAF genes are not random and depend on the localization of colorectal cancer tumors. The mutation detection rate was significantly higher in women than in men, and tumors in the rectum and sigmoid colon were the most commonly observed in all patients.
ARCHIVES OF MEDICAL SCIENCE
(2022)
Article
Genetics & Heredity
Omar Baba, Aram Bidikian, Deborah Mukherji, Ali Shamseddin, Sally Temraz, Najla Fakhruddin, Mira Khazzouh, Diana Ghizzawi, Rabab Abdel Khalek, Ghazi Zaatari, Rami Mahfouz
Summary: This study reviewed the frequencies of KRAS, NRAS and BRAF gene mutations in Lebanese CRC patients, finding that the mutation rates were similar to other populations, but the rate of BRAF mutation was lower than expected.
Article
Medical Laboratory Technology
Chengfeng Wang, Diling Pan
Summary: This study investigated the relationship between BRAF, KRAS, and PIK3CA mutations and clinicopathologic features and prognosis of colorectal cancer patients. The results showed that the mutant patterns of BRAF, KRAS, and PIK3CA were not associated with the general and clinicopathological features of patients. However, these mutation patterns could be used as independent prognostic factors for colorectal cancer.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Oncology
Yang Li, Jun Xiao, Tiancheng Zhang, Yanying Zheng, Hailin Jin
Summary: This study investigated the characteristics of KRAS, NRAS, and BRAF mutations and microsatellite instability (MSI) in early colorectal cancer (ECRC) patients. It found that KRAS mutation can serve as an independent prognostic factor for ECRC patients. However, postoperative chemotherapy may not benefit ECRC patients.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Emilio Francesco Giunta, Vincenzo De Falco, Pietro Paolo Vitiello, Luigi Pio Guerrera, Gabriella Suarato, Rossella Napolitano, Alessandra Perrone, Giuseppe Argenziano, Renato Franco, Michele Caraglia, Erika Martinelli, Davide Ciardiello, Fortunato Ciardiello, Stefania Napolitano, Teresa Troiani
Summary: Liquid biopsy, using real-time quantitative PCR, is useful for melanoma diagnosis and treatment monitoring, especially in high disease burden patients. However, the low sensitivity of this technique may not be sufficient for predicting relapses in radically resected patients.
Article
Oncology
Leandro Guettlein, Maria R. Luca, Federico Esteso, Cristobal Fresno, Javier Mariani, Mercedes Otero Pizarro, Esteban Brest, Solange Starapoli, Kevin Kreimberg, Paula Teves, Andrea Mendoza Bertelli, Maria R. Girotti, Ruben Salanova, Juan M. O'Connor
Summary: This study analyzed the frequency of KRAS, NRAS, and BRAF hotspot mutations in ctDNA from patients with mCRC. The results suggest that these mutations are associated with overall survival and progression-free survival in these patients.
Review
Biochemistry & Molecular Biology
Venzil Lavie Dsouza, Divya Adiga, S. Sriharikrishnaa, Padmanaban S. Suresh, Aniruddha Chatterjee, Shama Prasada Kabekkodu
Summary: snoRNAs play a critical role in regulating miRNA expression and their dysregulation is associated with breast cancer. Measuring snoRNA levels could be informative for the diagnosis and prognosis of breast cancer.
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER
(2021)
Review
Biochemistry & Molecular Biology
Sai Shyam Vasantharajan, Michael R. Eccles, Euan J. Rodger, Sharon Pattison, John L. McCall, Elin S. Gray, Leslie Calapre, Aniruddha Chatterjee
Summary: Cancer metastasis is a major cause of high mortality rates, with CTCs potentially serving as minimally invasive biomarkers for early detection and therapeutic monitoring. However, research on CTCs is limited due to their low numbers and the lack of robust isolation methods. Molecular characterization of CTCs is needed to identify tumor-specific features for clinical implications.
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER
(2021)
Article
Biochemistry & Molecular Biology
Anne-Sophie Voisin, Victoria Suarez Ulloa, Peter Stockwell, Aniruddha Chatterjee, Frederic Silvestre
Summary: Organisms exposed to endocrine disruptors during early life may experience altered phenotype in adulthood. This study exposed hatchlings of a self-fertilizing fish to 17-alpha-ethinylestradiol and found long-term effects on hepatic genome-wide methylation, with implications for NIPBL as a regulator. DNA methylation was also found to play a significant role in intergenic regions and potentially in transposable elements.
Article
Oncology
Euan J. Rodger, Suzan N. Almomani, Jackie L. Ludgate, Peter A. Stockwell, Bruce C. Baguley, Michael R. Eccles, Aniruddha Chatterjee
Summary: Cancer cell lines are a defined population of cells sourced from tumour tissue that can be maintained in culture for an extended period of time. Gene activity in cells is partially regulated by DNA methylation, an epigenetic process. While DNA methylation profiles are globally conserved between tumour tissues and cell lines, there are specific sites that show differential methylation patterns, potentially impacting gene expression.
Article
Developmental Biology
Suzan N. Almomani, Abdulmonem A. Alsaleh, Robert J. Weeks, Aniruddha Chatterjee, Robert C. Day, Izumi Honda, Hidekazu Homma, Ryuji Fukuzawa, Tania L. Slatter, Noelyn A. Hung, Celia Devenish, Ian M. Morison, Erin C. Macaulay
Summary: This study identified consistent differential methylation in CMIP gene in pre-eclampsia, suggesting its potential as diagnostic biomarkers for this dangerous conditions of pregnancy. Targeted deep bisulfite sequencing confirmed two DMPs in CMIP gene, indicating its association with the pathogenesis of PE. Further studies are needed to explore the implications of these findings in understanding and managing pre-eclampsia.
Article
Oncology
Antonio Ahn, Euan J. Rodger, Jyoti Motwani, Gregory Gimenez, Peter A. Stockwell, Matthew Parry, Peter Hersey, Aniruddha Chatterjee, Michael R. Eccles
Summary: The research identified a transcriptional pattern of PD-L1 expression underlying resistance to targeted therapy in a subgroup of melanomas. These resistant melanomas were found to be markedly dedifferentiated compared to non-resistant melanomas. Understanding these transcriptomic changes could lead to interventions to prevent drug resistance in melanoma and potentially other cancer types.
Review
Biochemistry & Molecular Biology
Sarah A. Bowden, Euan J. Rodger, Aniruddha Chatterjee, Michael R. Eccles, Cherie Stayner
Summary: ADPKD is a heritable renal disease caused by uncontrolled cyst growth in the kidneys, leading to end-stage kidney disease, with limited therapeutic options available. Due to similarities with neoplasia, research suggests that ADPKD kidneys may have alterations in their epigenetic landscape.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Virology
Allison M. Tschirley, Peter A. Stockwell, Euan J. Rodger, Oliver Eltherington, Ian M. Morison, Neil Christensen, Aniruddha Chatterjee, Merilyn Hibma
Summary: Papillomaviruses can lead to DNA methylation changes in cells, potentially increasing susceptibility to ultraviolet-induced cutaneous squamous cell carcinoma.
Article
Oncology
Sai Shyam Vasantharajan, Edward Barnett, Elin S. Gray, John L. McCall, Euan J. Rodger, Michael R. Eccles, Fran Munro, Sharon Pattison, Aniruddha Chatterjee
Summary: Circulating tumor cells (CTCs) are metastatic seeds originating from solid tumors. Understanding CTC biology is essential for clinical diagnosis and therapy development. Current FDA-approved CTC enrichment methods have limitations, leading to interest in simpler size-based methods like MetaCell. MetaCell showed high recovery rates and purity in enriching CRC cells, demonstrating its potential for detecting CTCs in CRC patients.
Article
Biochemistry & Molecular Biology
Amber M. Helliwell, Peter A. Stockwell, Christina D. Edgar, Aniruddha Chatterjee, Warren P. Tate
Summary: This study maps the genomic changes in ME/CFS patients during relapse recovery cycles and finds functionally important changes in their DNA methylomes that are associated with metabolic, immune, and inflammatory dysfunctions. These findings provide potential practical applications for strategies to decrease relapse frequency in ME/CFS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Akash Bararia, Amlan Das, Sangeeta Mitra, Sudeep Banerjee, Aniruddha Chatterjee, Nilabja Sikdar
Summary: Pancreatic cancer is a disease with poor overall survival, and there is an immediate need for new and effective treatment options. In addition to genetic mutations, dysregulation of epigenetic signaling pathways is considered as a novel therapeutic target. Combinations of epigenetic medicines with conventional cytotoxic treatments or targeted therapy show promise in improving the response and survival rate of pancreatic cancer patients.
WORLD JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2023)
Review
Oncology
Hannah O'Neill, Heather Lee, Ishaan Gupta, Euan J. Rodger, Aniruddha Chatterjee
Summary: Cancer is a complex disease composed of diverse cell populations/subpopulations with varying genetic and epigenetic states. Aberrant DNA methylation, an epigenetic modification, has been implicated in oncogenesis. Traditional sequencing methods provide averaged methylation profiles of thousands of cells, but with single-cell sequencing technologies, the methylome of individual cells can now be acquired. This technology has important implications for cancer biology research, biomarker discovery, and less invasive diagnostic tests.
Review
Oncology
Rakesh Banerjee, Jim Smith, Michael R. Eccles, Robert J. Weeks, Aniruddha Chatterjee
Summary: Despite advancements in therapy and clinical management, survival rates for metastatic disease remain low. Epigenetic regulatory mechanisms are now recognized as key drivers of successful metastasis, and the emergence of CRISPR-based epigenomic editing allows for investigation of their direct role. This review examines the role of epigenetic mechanisms in cancer metastasis, explores recent developments in epigenomic investigation technologies, and highlights the emerging applications of epigenomic editing in clinical cancer management.
Review
Genetics & Heredity
Sultana Mehbuba Hossain, Chiemi F. Lynch-Sutherland, Aniruddha Chatterjee, Erin C. Macaulay, Michael R. Eccles
Summary: Cancer and placental cells exhibit similarities in terms of immune suppression and invasive behavior, involving genetic and epigenetic alterations. Research is being conducted to identify new targets for cancer therapy, particularly focusing on mechanisms related to immune evasion and drug resistance.