Article
Medicine, Research & Experimental
Raie T. Bekele, Amruta S. Samant, Amin H. Nassar, Jonathan So, Elizabeth P. Garcia, Catherine R. Curran, Justin H. Hwang, David L. Mayhew, Anwesha Nag, Aaron R. Thorner, Judit Borcsok, Zsofia Sztupinszki, Chong-Xian Pan, Joaquim Bellmunt, David J. Kwiatkowski, Guru P. Sonpavde, Eliezer M. Van Allen, Kent W. Mouw
Summary: The study identified RAF1 activation as a dependency in a subset comprising nearly 20% of urothelial tumors, suggesting that targeting RAF1-mediated signaling may represent a rational therapeutic strategy.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
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
Pediatrics
George Papadopoulos, Anna Papadopoulou, Konstantina Kosma, Anastasios Papadimitriou, Vassiliki Papaevangelou, Christina Kanaka-Gantenbein, Evangelia Bountouvi, Sophia Kitsiou-Tzeli
Summary: Noonan syndrome (NS) is an autosomal dominant disorder with a mutation rate of 50% in the Greek population, mostly found in PTPN11 (32.5%), RIT1 (6%), and SOS1 (4.7%) genes. Patients with mutations have a 6.71-fold increased risk of pulmonary stenosis compared to those without mutations. PTPN11-positive patients exhibit more facial dysmorphisms while having lower neurological findings compared to patients with mutations in other genes.
EUROPEAN JOURNAL OF PEDIATRICS
(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
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.
Review
Biochemistry & Molecular Biology
Jason J. Kwon, William C. Hahn
Summary: SHOC2 is a key scaffold protein that plays a critical role in RTK/RAS signaling, facilitating downstream receptor tyrosine kinase (RTK) and RAS signaling while mediating various cellular and developmental processes.
MOLECULAR AND CELLULAR BIOLOGY
(2021)
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
Weijia Cai, Mai Q. Nguyen, Nicole A. Wilski, Timothy J. Purwin, Megane Vernon, Manoela Tiago, Andrew E. Aplin
Summary: In this study, it was demonstrated that loss of phosphoinositide-dependent kinase-1 (PDPK1) enhances the efficacy of MEKi, and the synergistic effects of PDPK1 loss and MEKi were validated in NRAS mutant melanoma cell lines.
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
Atilano Carcavilla, Ana Cambra, Jose L. Santome, Veronica Seidel, Jaime Cruz, Milagros Alonso, Jesus Pozo, Irene Valenzuela, Encarna Guillen-Navarro, Fernando Santos-Simarro, Isabel Gonzalez-Casado, Amparo Rodriguez, Constancio Medrano, Juan Pedro Lopez-Siguero, Begona Ezquieta
Summary: This study aimed to understand the molecular basis of patients with RASopathies, with a focus on patients with pathogenic variants in genes other than PTPN11, and its potential impact on rGH treatment indication. The study found that the correct nosological classification of patients with RASopathies is critical for determining the use of rhGH treatment and emphasized the importance of genetic testing in guiding the diagnostic orientation in these patients.
JOURNAL OF CLINICAL MEDICINE
(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
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
Genetics & Heredity
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammi, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Marco Tartaglia
Summary: Whole exome sequencing is effective in diagnosing complex phenotypes. This study reports on a 12-year-old girl with an unpredictable presentation of Werner Syndrome, carrying genetic variants in RECQL2 and PTPN11 genes, which are associated with senescence in primary cells.
Article
Oncology
Antonia Vinyals, Josep R. Ferreres, Neus Calbet-Llopart, Raquel Ramos, Gemma Tell-Marti, Cristina Carrera, Joaquim Marcoval, Susana Puig, Josep Malvehy, Joan Anton Puig-Butille, Angels Fabra
Summary: A recently discovered gene fusion called SOX5-RAF1 has been found in lesions from Giant Congenital Melanocytic Nevi (CMN), which can lead to increased cell growth and activation of the MAPK signaling pathway. Further research on this fusion may help in intervening melanoma progression.
PIGMENT CELL & MELANOMA RESEARCH
(2022)