Journal
CANCER LETTERS
Volume 384, Issue -, Pages 86-93Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.canlet.2016.10.013
Keywords
MASI; UPD; Loss of wild-type allele; KRAS; EGFR; PDAC
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Funding
- NIH/NCI [R01 CA109525, R01 CA178445]
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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. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
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