AKNA is identified as a gene that regulates inflammation, immune response, and Epithelial-Mesenchymal Transition (EMT), which plays an important role in the progression of epithelial ovarian cancer. In this study, we analyzed the genotype and allele distribution as well as 3D modeling of one of the AKNA rs10817595 (-1372 C>A). The distribution of genotypes and alleles was analyzed using the T-ARMS PCR method on 63 ovarian cancer samples and 65 controls. AKNA mRNA expression was analyzed using qRT-PCR on 35 low-grade and 28 high-grade samples. Fifteen low-grade and 12 high-grade samples were analyzed for AKNA protein levels using immunohistochemistry. A 3D model of protein structure was constructed using AlphaFold. Significant differences in AKNA protein levels were found. However, no significant correlation was found for relative AKNA mRNA expression with protein levels. This result is thought to be related to decreased immune system response, increased inflammation, and increased EMT in epithelial ovarian cancer. AKNA gene variant (-1372 C>A) can cause a decrease in mRNA and protein levels in the low-grade and high-grade groups, so it has the potential as a genetic susceptibility factor in epithelial ovarian cancer.
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http://dx.doi.org/10.3390/cimb47020078 | DOI Listing |
Acad Radiol
March 2025
Department of Nuclear Medicine, Beijing Luhe Hospital, Capital Medical University, Xinhua Road 82, Tong Zhou District, 101199 Beijing, China.
Rationale And Objectives: The objective of this research is to carry out a systematic review and meta-analysis to detect the diagnostic efficacy of 68Ga-FAPI Positron Emission Tomography (PET) Computed Tomography/Magnetic Resonance (CT/MR) in total of the lesions as well as different aspects of metastasis in individuals with ovarian cancers (OC).
Materials And Methods: The PubMed, Embase, Cochrane library, and Web of Science databases were thoroughly searched until the cut-off date of July 23, 2024. The assessment of 68Ga-FAPI PET CT/MR of OC was presented by the included studies.
Keio J Med
March 2025
Center for Hereditary Breast and Ovarian Cancer Syndrome, Keio University Hospital, Tokyo, Japan.
Hereditary breast and ovarian cancer syndrome (HBOC) is traditionally associated with mutations in the BRCA1 and BRCA2 genes, predominantly impacting breast, ovarian, pancreatic, and prostate cancers. However, recent research suggests that these mutations may also predispose carriers to a broader spectrum of malignancies, including biliary tract, cervical, colorectal, endometrial, esophageal, and gastric cancers. This review presents findings from extensive datasets, including a significant study from a nationwide Japanese biobank that examined cancer risks in 63,828 patients and 37,086 controls.
View Article and Find Full Text PDFArch Pathol Lab Med
March 2025
From Translational Medicine, ImmunoGen, Inc, Waltham, Massachusetts (Deutschman, Sloss).
Context.—: The VENTANA FOLR1 (FOLR1-2.1) RxDx (FOLR1 CDx) assay, developed by Roche Tissue Diagnostics, is a Food and Drug Administration-approved immunohistochemical assay intended for use in the assessment of folate receptor α (FRα) expression in formalin-fixed, paraffin-embedded epithelial ovarian, fallopian tube, and primary peritoneal tumor specimens.
View Article and Find Full Text PDFAm J Hum Genet
March 2025
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Genome-wide association studies have been highly successful at identifying common variants associated with cancer; however, they do not explain all the inherited risks of cancer. Family-based studies, targeted sequencing, and, more recently, exome-wide association studies have identified rare coding variants in some genes associated with cancer risk, but the overall contribution of these variants to the heritability of cancer is less clear. Here, we describe a method to estimate the genome-wide contribution of rare coding variants to heritability that fits models to the burden effect sizes using an empirical Bayesian approach.
View Article and Find Full Text PDFTalanta
March 2025
The Key Laboratory for Biomedical Photonics of MOE at Wuhan National Laboratory for Optoelectronics, Hubei Bioinformatics & Molecular Imaging Key Laboratory, Systems Biology Theme, Department of Biomedical Engineering, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China. Electronic address:
The detection of glycosylation alterations is essential for elucidating the roles of glycan functions in biological processes and identifying potential disease biomarkers. Stable isotopic chemical labeling, coupled with mass spectrometry (MS), represents a powerful approach in quantitative glycomics. In this study, we synthesized a novel isotopic hydrazide pair, 2,6-Dimethyl-4-chinolincarbohydrazid (DMQCH) and its deuterium isomer DMQCH-d, via an efficient and cost-effective method, and applied it for the first time in MALDI-MS-based quantitative glycomics.
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