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
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
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
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
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)
Review
Oncology
Hiroyuki Takeda, Yu Sunakawa
Summary: BRAF mutations are an important poor prognostic factor in mCRC, but greater understanding of patient characteristics through genomic classification allows for more ideal treatment strategies.
FRONTIERS IN ONCOLOGY
(2021)
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
Chemistry, Multidisciplinary
Raluca-Ioana Stefan-van Staden, Alexandru Adrian Bratei, Ruxandra-Maria Ilie-Mihai, Damaris-Cristina Gheorghe, Bianca Maria Tuchiu, Simona Gurzu
Summary: Two miniaturized electrochemical devices were developed for simultaneous bioanalysis of MMR and KRAS. The devices utilized a 3D stochastic microsensor modified with NSB-EGR decorated with frutafit (FTEX and FHD). FHD-based microdevice showed higher sensitivity for MSH2, MSH6, KRAS, and PMS2, while FTEX-based microdevice exhibited the best sensitivity for MLH1. The validation tests demonstrated excellent recoveries and low RSD values for all analytes in different sample types.
Article
Oncology
Arne G. C. Bleijenberg, Joep E. G. IJspeert, Jos B. G. Mulder, Paul Drillenburg, Herbert Stel, Elisabeth M. Lodder, Beatriz Carvalho, Jade Jansen, Gerrit Meijer, Susanne van Eeden, Evelien Dekker, Carel J. M. van Noesel
Summary: Around 15-30% of colorectal cancers (CRC) develop from sessile serrated lesions (SSLs). The molecular events and mutations differ between MLH1-proficient and MLH1-deficient lesions, with a higher tumor mutational burden observed in MLH1-deficient lesions. ACVR2A and RNF43/ZNRF3 hotspot mutations are common in the early progression of MLH1-deficient serrated pathway, while APC and TP53 mutations are early events in the MLH1-proficient pathway.
JOURNAL OF PATHOLOGY
(2022)
Article
Oncology
Ha Thi Nguyen, Do Thanh Le, Quan Hong Duong, Vinay Bharadwaj Tatipamula, Bang Van Nguyen
Summary: Tumor heterogeneity and resistance to chemotherapy are major obstacles in colorectal cancer treatment. A study in Vietnam found typical molecular features in CRC patients, including a high rate of MSI-H and its co-existence with KRAS and BRAF mutations.
Article
Pathology
Chung-Ta Lee, Nan-Haw Chow, Yi-Lin Chen, Chung-Liang Ho, Yu-Min Yeh, Shao-Chieh Lin, Peng-Chan Lin, Bo-Wen Lin, Chien-An Chu, Hung-Wen Tsai, Jenq-Chang Lee
Summary: Microsatellite instability (MSI) in colorectal cancers (CRCs) is associated with mismatch repair system deficiencies, particularly due to methylation of MMR genes and BRAF mutations. Different patterns of dMMR were found to be associated with specific clinicopathological features, with BRAF V600E mutations predominantly occurring in certain types. The expression patterns of MMR proteins also showed distinct associations with tumor staging and age at diagnosis.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Review
Oncology
Samantha M. Ruff, Timothy M. Pawlik
Summary: Colorectal cancer is the third leading cause of cancer-related death in the United States, with 20% of patients presenting with metastatic disease at the time of diagnosis. Tailoring treatment based on the molecular and pathologic features of the primary tumor may improve outcomes for patients. Basic science research plays a critical role in informing clinical trials and identifying effective therapies for metastatic colorectal cancer.
Article
Oncology
Iiris Ukkola, Pirjo Nummela, Annamari Heiskanen, Matilda Holm, Sadia Zafar, Mia Kero, Caj Haglund, Tero Satomaa, Soili Kytola, Ari Ristimaki
Summary: All human cells have a complex glycan coating, and alterations in cell surface glycans are related to cancer progression and immune suppression. Colorectal cancer is a heterogeneous disease with different molecular subtypes, which have varying prognosis and therapy responses. Microsatellite instability and BRAF gene mutation, two important molecular markers, have been ignored in previous glycomics studies. Our analysis of the N-glycan profiles of colorectal cancers with different molecular subtypes revealed characteristic glycan profiles that may explain their tumorigenic properties.
Article
Oncology
Cristian Perna, Antonia Navarro, Ignacio Ruz-Caracuel, Tamara Caniego-Casas, Eva Cristobal, Susanna Leskela, Federico Longo, Alejandra Caminoa, Almudena Santon, Reyes Ferreiro, David Pizarro, Maria Luisa Palacios-Berraquero, Jose Palacios
Summary: The study characterized the clinicopathological, immunohistochemical, and molecular features of high grade colorectal carcinomas (HG-CRCs), finding that mismatch repair deficiency (MMRd) was a major contributing factor to intertumor and intratumor molecular heterogeneity in HG-CRCs. MMR status conditioned the frequency and clonality of molecular alterations, with distinct molecular differences observed between MMR deficient and MMR proficient tumors.
Correction
Genetics & Heredity
Luz M. Canet, Jose M. Sanchez-Maldonado, Rafael Caliz, Ana Rodriguez-Ramos, Carmen B. Lupianez, Helena Canhao, Manuel Martinez-Bueno, Alejandro Escudero, Juana Segura-Catena, Signe B. Sorensen, Merete L. Hetland, Maria Jose Soto-Pino, Miguel A. Ferrer, Antonio Garcia, Bente Glintborg, Ileana Filipescu, Eva Perez-Pampin, Alfonso Gonzalez-Utrilla, Miguel Angel Lopez Nevot, Pablo Conesa-Zamora, Alfons den Broeder, Salvatore De Vita, Sven Erik Hobe Jacobsen, Eduardo Collantes-Estevez, Luca Quartuccio, Federico Canzian, Joao E. Fonseca, Marieke J. H. Coenen, Vibeke Andersen, Juan Sainz
PHARMACOGENOMICS JOURNAL
(2019)
Article
Hematology
Maria Eugenia de la Morena-Barrio, Salam Salloum-Asfar, Julio Esteban, Belen de la Morena-Barrio, Carmen Altisent, Laura Martin-Fernandez, Paul Gueguen, Jose Padilla, Antonia Minano, Rafael Parra, Vicente Vicente, Francisco Vidal, Frederic Bauduer, Pablo Carbonell, Javier Corral
Article
Genetics & Heredity
Alexandra Kondelova, Begona Alburquerque-Gonzalez, Petra Vychytilova-Faltejskova, Jose Garcia-Solano, Vladimir Prochazka, Zdenek Kala, Fernando Perez, Ondrej Slaby, Pablo Conesa-Zamora
Article
Biochemistry & Molecular Biology
Begona Alburquerque-Gonzalez, Manuel Bernabe-Garcia, Silvia Montoro-Garcia, Angel Bernabe-Garcia, Priscila Campioni Rodrigues, Javier Ruiz Sanz, Fernando F. Lopez-Calderon, Irene Luque, Francisco Jose Nicolas, Maria Luisa Cayuela, Tuula Salo, Horacio Perez-Sanchez, Pablo Conesa-Zamora
EXPERIMENTAL AND MOLECULAR MEDICINE
(2020)
Article
Genetics & Heredity
Silvia Montoro-Garcia, Begona Alburquerque-Gonzalez, Angel Bernabe-Garcia, Manuel Bernabe-Garcia, Priscila Campioni Rodrigues, Helena den-Haan, Irene Luque, Francisco Jose Nicolas, Horacio Perez-Sanchez, Maria Luisa Cayuela, Tuula Salo, Pablo Conesa-Zamora
JOURNAL OF MOLECULAR MEDICINE-JMM
(2020)
Review
Biochemistry & Molecular Biology
Begona Alburquerque-Gonzalez, Fernando F. Lopez-Calderon, Maria Dolores Lopez-Abellan, Angel Esteban-Gil, Jose Garcia-Solano, Pablo Conesa-Zamora
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Letter
Infectious Diseases
Luis Garcia de Guadiana Romualdo, Maria Dolores Rodriguez Mulero, Marta Hernandez Olivo, Carlos Rodriguez Rojas, Veronica Ramos Arenas, Mercedes Gonzalez Morales, Ana Blazquez Abellan, Pablo Conesa-Zamora, Josefina Garcia-Garcia, Andres Conesa Hernandez, Daniel Morell-Garcia, Maria Dolores Albaladejo-Oton, Luciano Consuegra-Sanchez
JOURNAL OF INFECTION
(2021)
Review
Pharmacology & Pharmacy
Jorge Galan-Ros, Veronica Ramos-Arenas, Pablo Conesa-Zamora
Article
Medicine, General & Internal
Luis Garcia de Guadiana-Romualdo, Maria Dolores Calvo Nieves, Maria Dolores Rodriguez Mulero, Ismael Calcerrada Alises, Marta Hernandez Olivo, Wysali Trapiello Fernandez, Mercedes Gonzalez Morales, Cristina Bolado Jimenez, Maria Dolores Albaladejo-Oton, Hilda Fernandez Ovalle, Andres Conesa Hernandez, Eugenio Azpeleta Manrique, Luciano Consuegra-Sanchez, Leonor Nogales Martin, Pablo Conesa Zamora, David Andaluz-Ojeda
Summary: This study investigated the relationship between circulating mid-regional proadrenomedullin (MR-proADM) levels and the prognosis of COVID-19 patients, and found that MR-proADM was the best predictor for death and disease progression in these patients.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Oncology
Begona Alburquerque-Gonzalez, Angel Bernabe-Garcia, Manuel Bernabe-Garcia, Javier Ruiz-Sanz, Fernando Feliciano Lopez-Calderon, Leonardo Gonnelli, Lucia Banci, Jorge Pena-Garcia, Irene Luque, Francisco Jose Nicolas, Maria Luisa Cayuela-Fuentes, Enrico Luchinat, Horacio Perez-Sanchez, Silvia Montoro-Garcia, Pablo Conesa-Zamora
Summary: Colorectal cancer is the third leading cause of cancer-related deaths globally, with serrated adenocarcinoma recognized for its poor prognosis. Fascin1, identified as a protein directly related to tumor cell invasiveness and overexpression, has emerged as a promising target for cancer treatment. Through virtual screening, the FDA-approved antiretroviral drug RAL was identified as a potential Fascin1 inhibitor, demonstrating anti-invasive and anti-metastatic properties against colorectal cancer cells both in vitro and in vivo.
Article
Dentistry, Oral Surgery & Medicine
Awais Wahab, Aini Hyytiainen, Wafa Wahbi, Katja Tuomainen, Sanni Tervo, Pablo Conesa-Zamora, Laura Jauhiainen, Laura K. Makinen, Timo Paavonen, Sanna Toppila-Salmi, Abdelhakim Salem, Alhadi Almangush, Tuula Salo, Ahmed Al-Samadi
Summary: The study suggests that fascin 1 may serve as a promising anti-metastatic therapeutic target and a potential prognostic marker in patients with HNSCC. Novel anti-metastatic agents could be of significant value in cancer therapy.
EUROPEAN JOURNAL OF ORAL SCIENCES
(2021)
Article
Immunology
Vicente Santaclara, Daniel Torres-Moreno, Carmen M. Bernal-Manas, Maria Alejandra Isaac, Sebastian Ortiz-Reina, Pablo Conesa-Zamora
Summary: The CC genotype in FASL is associated with an increased risk of progression from LSIL to HSIL, especially in females infected with high-risk HPV.
Article
Transplantation
Rosa de Alarcon, Begona Alburquerque-Gonzalez, Africa Fernandez-Valera, Manuel Molina-Nunez, Gracia Alvarez Fernandez, Luciano Consuegra-Sanchez, Gines Luengo-Gil, Pablo Conesa-Zamora
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Oncology
Maria del Carmen Turpin-Sevilla, Fernando Perez-Sanz, Jose Garcia-Solano, Patricia Sebastian-Leon, Javier Trujillo-Santos, Pablo Carbonell, Eduardo Estrada, Anne Tuomisto, Irene Herruzo, Lochlan J. Fennell, Markus J. Makinen, Edith Rodriguez-Braun, Vicki L. J. Whitehall, Ana Conesa, Pablo Conesa-Zamora
Summary: Aberrant methylation patterns at specific genome sequences (CpG) are driving forces for carcinogenesis processes. Different histological subtypes of colorectal cancer (CRC) exhibit distinct global methylation patterns, with a shift from promoter hypermethylation to genomic hypomethylation occurring at a small sequence between 250 bp and 1 Kb from the gene TSS.
Article
Multidisciplinary Sciences
Gines Luengo-Gil, Pablo Conesa-Zamora
Summary: Current understanding of the cancer genome, breakthroughs in oncoimmunotherapy and resurgence of nucleic acid vaccines against cancer are making progress. However, immune response to cancer is still insufficient in some cases. Inducing bacterial translocation, where engineered bacteria containing tumor-specific genetic material are introduced into the body to activate specific T-cells, may offer a potential solution to improve immune response against cancer.