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Objective: Breast cancer is one of the most common malignancies and a leading cause of cancer-related death in women worldwide. Both hormone-related factors and genetic aberrations could cause breast cancer. We investigated copy number alternations (CNAs) on four breast cancer-susceptible loci, namely , , , and ()-rs2981578, in Taiwanese women.
Patients And Methods: Breast cancer tissues and blood samples from 66 patients and their clinical data were collected from a human biobank. The copy numbers of the germline samples (from blood) and cancer tissues from each patient on the susceptible loci - , , , and - were obtained using TaqMan probes in the Applied Biosystems Inc., (ABI) StepOnePlus Real-Time Polymerase Chain Reaction instrument and CopyCaller Software v1.0 (ABI, CA, USA).
Results: The mean copy numbers output by CopyCaller Software v1.0 of the cancer tissues on these susceptible loci (, and ) from the 66 patients were higher than those of the blood samples (2.0 vs. 1.9); however, significantly higher copy numbers for cancer tissues compared with germline samples were discovered only on 2q35-rs13387042 ( = 0.035). In addition, patients with advanced breast cancers had relatively many CNAs between their cancer tissues and germline samples on 17q23-rs6504950 ( = 0.008). Multivariate analysis revealed that the risk factor for patients with advanced breast cancers was CNAs between cancer tissues and germline samples on 17q23-rs6504950 (odds ratio = 13.337, 95% confidence interval: 1.525-122.468).
Conclusions: CNAs on 17q23-rs6504950 between cancer tissues and germline samples could affect cancer progression in Taiwanese women with breast cancer. Further investigations regarding the role of CNAs on 17q23-rs6504950 in cancer progression are necessary to elucidate the pathogenesis of breast cancer.
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http://dx.doi.org/10.4103/tcmj.tcmj_45_19 | DOI Listing |
PLoS Comput Biol
September 2025
Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Fanconi Anemia (FA) is a heritable syndrome characterized by DNA damage repair deficits, frequent malformations and a significantly elevated risk of bone marrow failure, leukemia, and mucosal head and neck squamous cell carcinomas (HNSCC). Hematopoietic stem cell gene therapy can prevent marrow failure and lower leukemia risk, but mucosal gene therapy to lower HNSCC risk remains untested. Major knowledge gaps include an incomplete understanding of how rapidly gene-corrected cellular lineages could spread through the oral epithelium, and which delivery parameters are critical for ensuring efficient gene correction.
View Article and Find Full Text PDFPLoS One
September 2025
Institute of Pathophysiology and Allergy Research, Center for Pathophysiology, Infectiology & Immunology, Medical University of Vienna, Vienna, Austria.
Advanced glycation end products (AGEs) and reactive intermediates, such as methylglyoxal, are formed during thermal processing of foods and have been implicated in the pathogenesis of a series of chronic inflammatory diseases. AGEs are thought to directly interact with the intestinal epithelium upon ingestion of thermally processed foods, but their effects on intestinal epithelial cells are poorly understood. This study investigated transcriptomic changes in human intestinal epithelial FHs 74 Int cells after exposure to AGE-modified human serum proteins (AGE-HS), S100A12, a known RAGE ligand, and unmodified human serum proteins (HS).
View Article and Find Full Text PDFAm J Physiol Cell Physiol
September 2025
Division of Medical Sciences, NOSM University, Ontario, Canada.
Cancer induced skeletal muscle wasting (cachexia) is responsible for over 20% of cancer related deaths, yet much about the pathophysiology of the condition remains unknown. Importantly, cancer cachexia does not seem wholly responsive to traditional anabolic stimuli such as nutritional interventions. It is possible that tumours directly or indirectly target skeletal muscle for their dynamic and abundant pool of amino acids that can be reliably used by tumours to supplement energy production and biomass synthesis.
View Article and Find Full Text PDFIntroduction: Visceral adipose tissue (VAT) is a significant driver for metabolic disease risk. Low dose computed tomography (LDCT) imaging obtained for other clinical indications is useful for the opportunistic screening of osteoporosis and demonstrates additional potential for the screening of metabolic risk through the measurement of visceral adipose tissue. In this study, we explored LDCT-derived VAT and calculated VAT thresholds indicative of elevated metabolic risk in a population cohort of Chinese men and women.
View Article and Find Full Text PDFClin Cancer Res
September 2025
University of Michigan-Ann Arbor, Ann Arbor, MI, United States.
Purpose: Liposarcoma (LPS) is the most common soft tissue sarcoma. Well-differentiated LPS (WDLPS) can progress to dedifferentiated LPS (DDLPS), a more aggressive form with higher metastatic potential and poor response to existing therapies. Progress in understanding and treating LPS has been limited.
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