Yasemin Baskin^*†‡, Gizem Calibasi Kocal^‡§, Betul Bolat Kucukzeybek^¶, Mahdi Akbarpour^#, Nurcin Kayacik^**, Ozgul Sagol^††, Hulya Ellidokuz^†‡‡, Ilhan Oztop^§§

Oncology Research, Vol.24, No.1, pp. 41-53, 2016, DOI:10.3727/096504016X14576297492418

Abstract Most of the gastrointestinal stromal tumors (GISTs) have gain-of-function mutations in the KIT gene, which can be used as a prognostic marker for the biological behavior of tumors, predictive marker for the response of tyrosine kinase inhibitors, and diagnostic marker. Researchers have focused on PDGFRA mutations because of both their prognostic and predictive potential and DOG1 positivity for diagnosis on GISTs. The aim of this study is to investigate the effect DOG1, PDGFRA, and KIT mutations on the prediction of the outcome for GIST management. Polymerase chain reaction was performed for KIT gene exons 9, 11, 13,… More >

CHAO TANG^1,#, CHUNYU ZHONG^2,#, JUNHAO ZHU¹, FENG YUAN¹, JIN YANG¹, YONG XU^3,*, CHIYUAN MA^1,3,4,5,*

Oncology Research, Vol.32, No.6, pp. 1079-1091, 2024, DOI:10.32604/or.2024.046007

Abstract Approximately 30%–40% of growth hormone–secreting pituitary adenomas (GHPAs) harbor somatic activating mutations in GNAS (α subunit of stimulatory G protein). Mutations in GNAS are associated with clinical features of smaller and less invasive tumors. However, the role of GNAS mutations in the invasiveness of GHPAs is unclear. GNAS mutations were detected in GHPAs using a standard polymerase chain reaction (PCR) sequencing procedure. The expression of mutation-associated maternally expressed gene 3 (MEG3) was evaluated with RT-qPCR. MEG3 was manipulated in GH3 cells using a lentiviral expression system. Cell invasion ability was measured using a Transwell assay, and epithelial–mesenchymal transition… More >

SHA ZHU^#, NANWEI XU^#, JIAYU LIANG, FENGNIAN ZHAO, ZILIN WANG, YUCHAO NI, JINDONG DAI, JINGE ZHAO, XINGMING ZHANG, JUNRU CHEN, GUANGXI SUN, PENGFEI SHEN^*, HAO ZENG^*

Oncology Research, Vol.31, No.4, pp. 605-614, 2023, DOI:10.32604/or.2023.028321

Abstract Background: KMT2 (lysine methyltransferase) family enzymes are epigenetic regulators that activate gene transcription. KMT2C is mainly involved in enhancer-associated H3K4me1, and is also one of the top mutated genes in cancer (6.6% in pan-cancer). Currently, the clinical significance of KMT2C mutations in prostate cancer is understudied. Methods: We included 221 prostate cancer patients diagnosed between 2014 and 2021 in West China Hospital of Sichuan University with cell-free DNA-based liquid biopsy test results in this study. We investigated the association between KMT2C mutations, other mutations, and pathways. Furthermore, we evaluated the prognostic value of KMT2C mutations, measured by… More >

DHANYA K. NAMBIAR¹, DEEPALI MISHRA², RANA P. SINGH^2,3,*

Oncology Research, Vol.31, No.4, pp. 405-421, 2023, DOI:10.32604/or.2023.028310

Abstract Ionizing radiation is frequently used to treat solid tumors, as it causes DNA damage and kill cancer cells. However, damaged DNA is repaired involving poly-(ADP-ribose) polymerase-1 (PARP-1) causing resistance to radiation therapy. Thus, PARP-1 represents an important target in multiple cancer types, including prostate cancer. PARP is a nuclear enzyme essential for single-strand DNA breaks repair. Inhibiting PARP-1 is lethal in a wide range of cancer cells that lack the homologous recombination repair (HR) pathway. This article provides a concise and simplified overview of the development of PARP inhibitors in the laboratory and their clinical More > Graphic Abstract

Sugey Vásquez-Hernández, Joaquín Adolfo Montes-Molina^*, Federico Antonio Gutiérrez-Miceli, Sheila Jazmín Reyes-Zambrano, Carlos Alberto Lecona-Guzmán^*

Phyton-International Journal of Experimental Botany, Vol.92, No.7, pp. 2065-2078, 2023, DOI:10.32604/phyton.2023.028784

Abstract Biotechnological techniques provide a viable alternative to help improve and increase the production of plant species of agricultural and economic importance, which have been affected over the years by climate change, increasing their susceptibility to pests and/or diseases, generating losses in production as well as a decrease in their regenerative and genetic diversity. The application of biotechnological techniques such as in vitro mutagenesis offers a viable option for the generation of crops that are resistant to the different factors caused by abiotic and biotic stress. In vitro mutagenesis has been used in an efficient way to generate… More >

Jiajian Shi¹, Yuchen Chen^1,*, Chentai Peng¹, Linwu Kuang², Zitong Zhang¹, Yangkai Li^2,*, Kun Huang¹

Oncologie, Vol.24, No.4, pp. 613-648, 2022, DOI:10.32604/oncologie.2022.027545

Abstract The incidence and mortality of lung cancer rank top three of all cancers worldwide. Accounting for 85% of the total number of lung cancer, non-small cell lung cancer (NSCLC) is an important factor endangering human health. Recently, targeted therapies against driver mutations and epigenetic alterations have made encouraging advances that benefit NSCLC patients. Druggable driver mutations, which mainly occur in EGFR, KRAS, MET, HER2, ALK, ROS1, RET and BRAF, have been identified in more than a quarter of NSCLC patients. A series of highly selective mutant targeting inhibitors, such as EGFR tyrosine kinase inhibitors and KRAS inhibitors, have been… More >

Rui Jiang^1,3,*, Kaisheng Lai², Jianping Xu¹, Xiang Feng¹, Shaoye Wang¹, Xiaojian Wang³, Zhe Liu²

Congenital Heart Disease, Vol.17, No.6, pp. 675-686, 2022, DOI:10.32604/chd.2022.021626

Abstract Background: The etiology of pulmonary arterial hypertension associated with congenital heart disease (PAHCHD) is complicated and the phenotype is heterogeneous. Genetic defects of NOTCH3 were associated with cerebral disease and pulmonary hypertension. However, the relationship between NOTCH3 mutations and the clinical phenotype has not been reported in CHD-PAH. Methods: We eventually enrolled 142 PAH-CHD patients from Fuwai Hospital. Whole exome sequencing (WES) was performed to screen the rare deleterious variants of NOTCH3 gene. Results: This PAH-CHD cohort included 43 (30.3%) men and 99 (69.7%) women with the mean age 29.8 ± 10.9 years old. The pathogenic or likely pathogenic… More >

T. Edwin Ponraj^1,*, J. Charles²

Intelligent Automation & Soft Computing, Vol.36, No.1, pp. 1189-1203, 2023, DOI:10.32604/iasc.2023.033383

Abstract The mutation is a critical element in determining the proteins’ stability, becoming a core element in portraying the effects of a drug in the pharmaceutical industry. Doing wet laboratory tests to provide a better perspective on protein mutations is expensive and time-intensive since there are so many potential mutations, computational approaches that can reliably anticipate the consequences of amino acid mutations are critical. This work presents a robust methodology to analyze and identify the effects of mutation on a single protein structure. Initially, the context in a collection of words is determined using a knowledge More >

YINGHUI GAO, DENGTAI WEN^*, SHIJIE WANG, JINGFENG WANG

BIOCELL, Vol.47, No.1, pp. 41-49, 2023, DOI:10.32604/biocell.2022.022689

Abstract Presenilin (Psn) protein is associated with organismal aging. Mutations in the Psn gene may lead to Alzheimer’s disease (AD), dilated cardiomyopathy (DCM), and many age-dependent degenerative diseases. These diseases seriously affect the quality of life and longevity of the population and place a huge burden on health care and economic systems around the world. Humans have two types of Psn, presenilin-1 (PSEN1) and presenilin-2 (PSEN2). Mutations in the genes encoding PSEN1, PSEN2, and amyloid precursor protein (APP) have been identified as the major genetic causes of AD. Psn is a complex gene strongly influenced by genetic and… More >

Ya-Sian Chang^*†‡§, Chieh-Min Chang^†‡, Chien-Yu Lin^¶#, Dy-San Chao^†, Hsi-Yuan Huang^†, Jan-Gowth Chang^{*†‡**††}

Oncology Research, Vol.28, No.2, pp. 107-116, 2020, DOI:10.3727/096504019X15698362825407

Abstract The genomic landscape of breast cancer (BC) is complex. The purpose of this study was to decipher the mutational profiles of Taiwanese patients with BC using next-generation sequencing. We performed whole-exome sequencing on DNA from 24 tumor tissue specimens from BC patients. Sanger sequencing was used to validate the identified variants. Sanger sequencing was also performed on paired adjacent nontumor tissues. After genotype calling and algorithmic annotations, we identified 49 deleterious variants in canonical cancer-related genes in our BC cohort. The most frequently mutated genes were PIK3CA (16.67%), FKBP9 (12.5%), TP53 (12.5%), ATM (8.33%), CHEK2 (8.33%), FOXO3 (8.33%), NTRK1… More >