Articles with "number alterations" as a keyword



Genome‐wide analysis of colorectal cancer based on gene‐based somatic copy number alterations during neoplastic progression within the same tumor

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Published in 2022 at "Cancer Medicine"

DOI: 10.1002/cam4.5117

Abstract: The objective of this study was to elucidate the association between neoplastic progression and somatic copy number alterations (SCNAs) occurring within the same colorectal cancer (CRC) tumor. read more here.

Keywords: number alterations; somatic copy; neoplastic progression; colorectal cancer ... See more keywords

Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells

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Published in 2024 at "Nature Communications"

DOI: 10.1038/s41467-024-46710-0

Abstract: Subclonal copy number alterations are a prevalent feature in tumors with high chromosomal instability and result in heterogeneous cancer cell populations with distinct phenotypes. However, the extent to which subclonal copy number alterations contribute to… read more here.

Keywords: subclonal copy; copy number; cancer; number alterations ... See more keywords

Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations

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Published in 2024 at "Nature Genetics"

DOI: 10.1038/s41588-024-01988-0

Abstract: The prevalence and nature of somatic copy number alterations (CNAs) in breast epithelium and their role in tumor initiation and evolution remain poorly understood. Using single-cell DNA sequencing (49,238 cells) of epithelium from BRCA1 and… read more here.

Keywords: copy number; brca1 brca2; breast; number alterations ... See more keywords

Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma

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Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-40843-9

Abstract: In the recent years, new molecular methods have been proposed to discriminate multicentric hepatocellular carcinomas (HCC) from intrahepatic metastases. Some of these methods utilize sequencing data to assess similarities between cancer genomes, whilst other achieved… read more here.

Keywords: multi centric; copy number; convergent evolution; number alterations ... See more keywords

Detecting gene copy number alterations by Oncomine Comprehensive genomic profiling in a comparative study on FFPE tumor samples

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Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-88494-3

Abstract: Copy number alterations (CNAs) play a fundamental role in cancer development and constitute a potential tool for tailored treatments. The CNAs recognition in formalin fixed paraffin embedded (FFPE) material for diagnostic purposes has relied for… read more here.

Keywords: detection; copy number; oncomine comprehensive; number alterations ... See more keywords

Refinement of computational identification of somatic copy number alterations using DNA methylation microarrays illustrated in cancers of unknown primary

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Published in 2022 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbac161

Abstract: Abstract High-throughput genomic technologies are increasingly used in personalized cancer medicine. However, computational tools to maximize the use of scarce tissues combining distinct molecular layers are needed. Here we present a refined strategy, based on… read more here.

Keywords: methylation; number alterations; somatic copy; dna methylation ... See more keywords

TMOD-18. FUNCTIONAL DISSECTION OF RECURRENT COPY-NUMBER-ALTERATIONS INFORMS MECHANISMS OF LOW-GRADE-GLIOMA PROGRESSION

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Published in 2024 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noae165.1282

Abstract: Low-grade gliomas (LGG) are slowly growing brain cancers that ultimately undergo a malignant progression to lethal secondary glioblastomas with a dismal prognosis. Despite intensive research, very little progress has been made in our understanding of… read more here.

Keywords: copy number; progression; low grade; number alterations ... See more keywords

OS09.5.A RECURRENT COPY NUMBER ALTERATIONS DRIVE IDH-MUTANT ASTROCYTOMA DEVELOPMENT AND PROGRESSION

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Published in 2025 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noaf193.071

Abstract: IDH-mutant gliomas are diffusely infiltrating, slow-growing brain tumors that inevitably undergo malignant progression to grade IV astrocytoma - a highly aggressive and uniformly fatal disease with dismal prognosis. Despite extensive research, the molecular mechanisms underlying… read more here.

Keywords: mutant gliomas; number alterations; progression; idh ... See more keywords

Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling.

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Published in 2021 at "Genome research"

DOI: 10.1101/gr.275453.121

Abstract: Genomic-scale somatic copy number alterations in healthy humans are difficult to investigate because of low occurrence rates and the structural variations' stochastic natures. Using a Tn5-transposase-assisted single-cell whole-genome sequencing method, we sequenced over 20,000 single… read more here.

Keywords: somatic copy; copy number; number alterations; single cell ... See more keywords

Comprehensive analysis of intratumoural heterogeneity of somatic copy number alterations in diffuse glioma reveals clonality‐dependent prognostic patterns

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Published in 2022 at "Neuropathology and Applied Neurobiology"

DOI: 10.1111/nan.12831

Abstract: Intratumoural heterogeneity (ITH) has been implicated in tumour growth and progression as well as therapy resistance. However, the extent of ITH of somatic copy number alterations (ITH‐SCNAs) as a result of tumour evolution and its… read more here.

Keywords: intratumoural heterogeneity; number alterations; somatic copy; diffuse glioma ... See more keywords

Abstract 7419: Seq2Karyotype (S2K): A method for deconvoluting heterogeneity of copy number alterations using single-sample whole-genome sequencing data

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Published in 2024 at "Cancer Research"

DOI: 10.1158/1538-7445.am2024-7419

Abstract: Broad copy number alterations (CNAs) at chromosomal band resolution have been used as cancer diagnostic and prognostic biomarkers for decades. These events have been characterized by cytogenetic imaging, an approach which is powerful for assessing… read more here.

Keywords: cancer; s2k; number alterations; copy number ... See more keywords