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
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
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
Genetics & Heredity
Ana Paula Simedan Vila, Gabriela Helena Rodrigues, Ludmila Leite Marzochi, Juliana Garcia de Oliveira-Cucolo, Ana Livia Silva Galbiatti-Dias, Rafael Felipe Maciel Andrade, Dalisio de Santi Neto, jao Gomes Netinho, Lilian Castiglioni, Erika Cristina Pavarino, Eny Maria Goloni-Bertollo
Summary: This study evaluated 828 medical records of colorectal cancer patients and found that the most common characteristics were male gender, age over 64, white ethnicity, low education, smoking and non-alcoholism. The rectum was the most affected site, with advanced stage and metastasis. Colorectal cancer was associated with NRAS gene mutation and alcohol habit, and there was an increased risk for primary sites of the proximal colon and MSI-positive patients, while there was a decreased risk for the distal colon and rectum in the presence of MSI.
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
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
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
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)
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
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
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
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
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
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.