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Prostate cancer is one of the most commonly diagnosed cancers in men and unfortunately, disease will progress in up to a third of patients despite primary treatment. Currently, there is a significant lack of prognostic tests that accurately predict disease course; however, the acquisition of somatic chromosomal variation in the form of DNA copy number variants may help understand disease progression. Notably, studies have found that a higher burden of somatic copy number alterations (SCNA) correlates with more aggressive disease, recurrence after surgery and metastasis. Here we will review the literature surrounding SCNA formation, including the roles of key tumour suppressors and oncogenes (PTEN, BRCA2, NKX3.1, ERG and AR), and their potential to inform diagnostic and prognostic clinical testing to improve predictive value. Ultimately, SCNAs, or inherited germline alterations that predispose to SCNAs, could have significant clinical utility in diagnostic and prognostic tests, in addition to guiding therapeutic selection.
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http://dx.doi.org/10.1038/s41416-023-02485-7 | DOI Listing |
J Therm Biol
September 2025
Hainan Key Laboratory of Tropical Animal Reproduction & Breeding and Epidemic Disease Research, School of Tropical Agriculture and Forestry, Hainan University, Haikou, 570228, China. Electronic address:
In light of the challenges posed by global climate change, the environmental adaptability of organisms is becoming increasingly important. The Wuzhishan (WZS) pig, tolerant to high heat and humidity, is an ideal model for genomic study. By characterizing its genome and assessing its genetic diversity and runs of homozygosity (ROH), we can gain insights into its current conservation status and genomic architecture.
View Article and Find Full Text PDFPLOS Glob Public Health
September 2025
Department of Biology, University of Ottawa, Ottawa, Ontario, Canada.
Built environment surveillance has shown promise for monitoring COVID-19 burden at granular geographic scales, but its utility for surveillance across larger areas and populations is unknown. Our study aims to evaluate the role of built environment detection of SARS-CoV-2 for the surveillance of COVID-19 across broad geographies and populations. We conducted a prospective city-wide sampling study to examine the relationship between SARS-CoV-2 on floors and COVID-19 burden.
View Article and Find Full Text PDFRecursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity, especially for long, brain-expressed genes. The necessity of this unique mechanism remains unsubstantiated, as does the role of recursive splicing (RS) in human disease. From analyses of rare copy number variants (CNVs) from almost one million individuals, we previously identified large, heterozygous deletions eliminating an RS site (RS1) in the first intron of that conferred substantial risk for attention deficit hyperactivity disorder (ADHD) and other neurobehavioral traits.
View Article and Find Full Text PDFFront Oncol
August 2025
Jiaxing Hospital of Traditional Chinese Medicine, Jiaxing University, Jiaxing, Zhejiang, China.
Objective: The diagnosis of precancerous lesions of colorectal cancer (CRC) presents significant challenges in clinical practice. In this study, we conducted a clinical investigation using the UCAD technique after analyzing chromosomal copy number variations (CNVs) in formalin-fixed, paraffin-embedded (FFPE) samples from various pathological stages, aiming to evaluate the value of detecting chromosomal instability (CIN) in CRC diagnosis.
Methods: Based on colonoscopic pathological findings, we selected 39 FFPE specimens of tubular adenomas, 8 FFPE specimens of villous adenomas, 16 cases diagnosed as tubular-villous adenomas, and 14 cases without defined pathological subtype classification.
Npj Complex
September 2025
The Santa Fe Institute, Santa Fe, NM USA.
Assembly theory (AT) quantifies selection using the assembly equation, identifying complex objects through the assembly index, the minimal steps required to build an object from basic parts, and copy number, the observed instances of the object. These measure a quantity called Assembly, capturing causation necessary to produce abundant objects, distinguishing selection-driven complexity from random generation. Unlike computational complexity theory, which often emphasizes minimal description length via compressibility, AT explicitly focuses on the causation captured by selection as the mechanism behind complexity.
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