Current liquid biopsy assays lack sufficient sensitivity to detect copy number loss, which limits the interrogation of critical tumor suppressor gene deletions during cancer progression and treatment. Here we describe a liquid biopsy assay with improved sensitivity for detection of copy number loss in blood samples with low levels of circulating tumor DNA, and demonstrate its utility by profiling , , and genetic loss in metastatic prostate cancer patients.
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http://dx.doi.org/10.3389/fonc.2021.720727 | DOI Listing |
Front Parasitol
March 2024
Center for Research in Infectious Diseases, College of Graduate Studies and Research, Mount Kenya University, Thika, Kenya.
Introduction: Schistosomiasis (Bilharzia), a neglected tropical disease caused by parasites, afflicts over 240 million people globally, disproportionately impacting Sub-Saharan Africa. Current diagnostic tests, despite their utility, suffer from limitations like low sensitivity. Polymerase chain reaction (PCR) and quantitative real-time PCR (qPCR) remain the most common and sensitive nucleic acid amplification tests.
View Article and Find Full Text PDFTransl Cancer Res
December 2024
BGI Research, Chongqing, China.
Background: Medulloblastoma (MB) is a highly malignant childhood brain tumor. Previous research on the genetic underpinnings of MB subtypes has predominantly focused on European and American cohorts. Given the notable genetic differences between Asian and other populations, a subtype-specific study on an Asian cohort is essential to provide comprehensive insights into MB within this demographic.
View Article and Find Full Text PDFBMC Urol
January 2025
Department of Urology, Hama National Hospital, Hama, Syria.
Background: Urethral diverticulum is a sac-like dilation that extends from the urethral lumen and is connected to it. It can either be congenital or acquired, with the latter being more common. The development of calculi is rare in such patients.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China.
Background: Primary pulmonary lymphoepithelial carcinoma (pLEC) is a subtype of non-small cell lung cancer (NSCLC) characterized by Epstein-Barr virus (EBV) infection. However, the molecular pathogenesis of pLEC remains poorly understood.
Methods: In this study, we explored pLEC using whole-exome sequencing (WES) and RNA-whole-transcriptome sequencing (RNA-seq) technologies.
Prenat Diagn
January 2025
Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Institut Català de la Salut, Barcelona, Spain.
Objective: The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Method: A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.
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