Mutant Allele Specific Imbalance in Oncogenes with Copy Number Alterations: Occurrence, Mechanisms, and Potential Clinical Implications

Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analy...

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Bibliographic Details
Published in:Cancer letters 2017-01, Vol.384, p.86-93
Main Authors: Yu, Chih-Chieh, Qiu, Wanglong, Juang, Caroline S, Mansukhani, Mahesh M, Halmos, Balazs, Su, Gloria H., Dr
Format: Article
Language:English
Subjects:
Advantages
Allelic Imbalance
Animals
Biomarkers, Tumor - genetics
Conflicts of interest
DNA Copy Number Variations
EGFR
Gene amplification
Gene Dosage
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Genomes
Hematology, Oncology and Palliative Medicine
Humans
Investigations
Kinases
KRAS
Loss of Heterozygosity
Loss of wild-type allele
Lung cancer
MASI
Medical prognosis
Metastasis
Mutation
Neoplasms - genetics
Neoplasms - metabolism
Neoplasms - pathology
Oncogenes
PDAC
Phenotype
Proto-Oncogene Proteins p21(ras) - genetics
Receptor, Epidermal Growth Factor - genetics
Rodents
Tumorigenesis
Tumors
Uniparental Disomy
UPD
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Description
Summary:Abstract Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele. Here we summarize the occurrence of MASI with CNG, aUPD, or MASI with LOH in some major oncogenes (such as EGFR , KRAS , PIK3CA , and BRAF ). We also discuss how these various classifications of MASI have been demonstrated to impact tumorigenesis, progression, metastasis, prognosis, and potentially therapeutic responses in cancer, notably in lung, colorectal, and pancreatic cancers.
ISSN:0304-3835
1872-7980
DOI:10.1016/j.canlet.2016.10.013