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Copy number alterations

Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations

Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations

... Cutaneous melanoma is one of the most aggressive type of skin tumor. Early stage melanoma can be often cured by surgery; therefore current management guidelines dictate a different approach for thin (<1mm) versus ...

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Histotype-specific copy-number alterations in ovarian cancer

Histotype-specific copy-number alterations in ovarian cancer

... Genomic alterations such as copy number alterations (CNA) have been known to harbor drivers in carcino- ...known copy number alteration drivers in cancers include receptor ...

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High-resolution analysis of copy number alterations and associated expression changes in ovarian tumors

High-resolution analysis of copy number alterations and associated expression changes in ovarian tumors

... DNA copy number alterations (CNAs) can indicate the presence of genes involved in tumorigen- esis, studies of DNA instability in ovarian cancers could potentially lead to identification of causal ...

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Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations

Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations

... less number of somatic mutations ...and copy number alterations, ...the number and the genomic fraction of CNAs (Figure ...The copy number heatmaps corresponding to six ...

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Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations

Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations

... one copy of human ...in copy number of an amylase gene (AMY2B) greatly facilitated the adaptation of dogs to starch- rich diets associated with domestication (Axelsson et ...increased copy ...

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Ioncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment

Ioncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment

... genetic alterations include macro-aberrations such as amplifications, deletions or ...of copy number variations/alterations (CNVs/CNAs) in oncological ...somatic copy number ...

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Review Article Copy number alterations in colorectal cancer

Review Article Copy number alterations in colorectal cancer

... Genomic alterations have been recognized as key events in the initiation and progression of colorectal cancer (CRC), which are complex procedures comprising several sequential steps and orchestrated by networks of ...

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Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis

Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis

... frequent mutations, establish a significant risk for the patient on their own. Quantifying the risks associated with rare mutations has been complicated by the follow- ing reasons: (1) by definition, only a few patients ...

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DNA copy number alterations and PPARG amplification in a patient with multifocal bladder urothelial carcinoma

DNA copy number alterations and PPARG amplification in a patient with multifocal bladder urothelial carcinoma

... We also performed array-CGH analysis using genomic DNA extracted from the three tumors. The three biop- sies shared 6 CNVs (Figure 3A and B): 4 gains (3p25.2- p25.1, 3q13.11, 3q13.13, 12q23.2), and 2 losses (2q37.3, ...

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Landscape of somatic allelic imbalances and copy number alterations in HER2 amplified breast cancer

Landscape of somatic allelic imbalances and copy number alterations in HER2 amplified breast cancer

... specific copy numbers from GAP analysis for 835 events in 90 of 99 samples analyzed by SNP arrays, > 2 Mbp in size and with a total CN > 3 compared to the ...

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High resolution genomic and expression analyses of copy number alterations in HER2 amplified breast cancer

High resolution genomic and expression analyses of copy number alterations in HER2 amplified breast cancer

... tumors. Copy number estimates (log 2 ratios) for each array were normalized [26] and replicated samples were merged after ...the number of tumors with co-amplification divided by the lowest ...

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The landscape of genomic copy number alterations in colorectal cancer and their consequences on gene expression levels and disease outcome

The landscape of genomic copy number alterations in colorectal cancer and their consequences on gene expression levels and disease outcome

... extra copy of chromosome 7) might result in the formation of an adenoma, which progresses towards car- cinoma through the accumulation of additional (epi)-genetic alterations in a background of genomic ...

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Chromosomal copy number alterations for associations of ductal carcinoma in situ with invasive breast cancer

Chromosomal copy number alterations for associations of ductal carcinoma in situ with invasive breast cancer

... for copy number gains at 1q, 8q24 and 11q13 with any two of three genomic loci and all three genomic loci in pa- tients with DCIS and concurrent invasive cancer when compared to DCIS ...HER2 copy ...

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Genome-wide copy number alterations in subtypes of invasive breast cancers in young white and African American women.

Genome-wide copy number alterations in subtypes of invasive breast cancers in young white and African American women.

... The acquisition of genomic alterations is a critical event in cancer formation, potentially impacting the expression patterns of individual genes or entire biological pathways. For this study of young women we ...

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Chromosomal instability and copy number alterations in Barrett’s esophagus and
esophageal adenocarcinoma

Chromosomal instability and copy number alterations in Barrett’s esophagus and esophageal adenocarcinoma

... cytometric analysis of ploidy has been a validated standard for determining gross chromosomal instability, and aneuploid or tetraploid populations are associated with increased risk of EA in patients with BE 26, 28, 42 , ...

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Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma

Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma

... the copy number ...the copy num- ber ratios, and the positions with nonzero coefficients were considered as change ...lute copy numbers if the ploidy information is ...

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Comparative Analysis of Chromosomal Variation Altered New Region for Detecting Biomarker in Liver Cancer

Comparative Analysis of Chromosomal Variation Altered New Region for Detecting Biomarker in Liver Cancer

... of copy number alterations to test single-nucleotide polymorphism array of ten cell lines hepatic tumor patients on certain chromosomes, which are frequently detected in hepatic cancer have been ...

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Copy number gain of chromosome 3q is a recurrent event in patients with intraductal papillary mucinous neoplasm (IPMN) associated with disease progression

Copy number gain of chromosome 3q is a recurrent event in patients with intraductal papillary mucinous neoplasm (IPMN) associated with disease progression

... genome-wide copy number assay using the Oncoscan FFPE system, and multiple copy number alterations were identified, thus defining two major categories of IPMN at the genomic level: 7 ...

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Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus

Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus

... genomic alterations were identified in LDGs isolated from SLE patients, including copy number alterations, losses of heterozygosity, and microsatellite ...

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Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast

Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast

... and copy number profiles ...of copy number alterations by intrinsic subtype in 57 cases of pure ...of copy number alterations, similar to that proposed in in- ...

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