Research Papers:

‘Cut from the same cloth’: Shared microsatellite variants among cancers link to ectodermal tissues-neural tube and crest cells

Enusha Karunasena _, Lauren J. McIver, Jasmin H. Bavarva, Xiaowei Wu, Hongxiao Zhu and Harold R. Garner

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Oncotarget. 2015; 6:22038-22047. https://doi.org/10.18632/oncotarget.4194

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Enusha Karunasena1,*, Lauren J. Mciver1,*, Jasmin H. Bavarva1, Xiaowei Wu2, Hongxiao Zhu2, Harold R. Garner1

1Virginia Bioinformatics Institute, Medical Informatics and Systems Division, Virginia Tech, Blacksburg, VA 24061, USA

2Department of Statistics, Virginia Tech, Blacksburg, VA 24061, USA

*These authors have contributed equally to this work

Correspondence to:

Enusha Karunasena, e-mail: enusha.karunasena@gmail.com

Harold R. Garner, e-mail: garner@vbi.vt.edu

Keywords: microsatellite, glioma, medulloblastoma, melanoma, neuroblastoma

Received: April 07, 2015     Accepted: June 05, 2015     Published: June 17, 2015


The pluripotent cells of the embryonic ectodermal tissues are known to be a precursor for multiple tumor types. The adaptability of these cells is a trait exploited by cancer. We previously described cancer-associated microsatellite loci (CAML) shared between glioblastoma (GBM) and lower-grade gliomas. Therefore, we hypothesized that these variants, identified from germline DNA, are shared by cancers from tissues originating from ectodermal tissues: neural tube cells (NTC) and crest cells (NCC). Using exome sequencing data from four cancers with origins to NTC and NCC, a ‘signature’ of loci significant to each cancer (p-value ≤ 0.01) was created and compared with previously identified CAML from breast cancer. The results of this analysis show that variant loci among the cancers with tissue origins from NTC/NCC were closely linked. Signaling pathways linked to genes with non-coding CAML genotypes revealed enriched connections to hereditary, neurological, and developmental disease or disorders. Thus, variants in genes from tissues initiating from NTC/NCC, if recurrently detected, may indicate a common etiology. Additionally, CAML genotypes from non-tumor DNA may predict cancer phenotypes and are common to shared embryonic tissues of origin.

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