Loss of Imprinting as an Epigenetic Marker in Bladder Cancer

Reis, Mariana Bisarro dos; Rainho, Cláudia Aparecida

doi:10.5772/55814

Cited by 1 publication

(4 citation statements)

References 142 publications

(102 reference statements)

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“…One gene, MEST, showed significant LOI and two genes, H19 and HM13, were borderline significant (FDR < 0.1). MEST is already known to show LOI in varying cancers, including breast cancer and we were here able to confirm this deregulation 21,[30][31][32] . Aberrant H19 imprinting is often seen in cancer as well and is thought to have an important role in cancer development 33,34,21 .…”

Section: Discussionsupporting

confidence: 75%

“…MEST is already known to show LOI in varying cancers, including breast cancer and we were here able to confirm this deregulation 21,[30][31][32] . Aberrant H19 imprinting is often seen in cancer as well and is thought to have an important role in cancer development 33,34,21 . When taking into account the different tumour subtypes, we detected 23 SNPs (in 8 genes: ZDBF2, PEG10, MEST, H19, IGF2, MEG3, ZNF331 and HM13) exhibiting LOI in at least one subtype compared to the normal tissue samples.…”

Section: Discussionsupporting

confidence: 75%

“…LOI was particularly present in BL and HER2 tumours. Many of these genes had been linked with LOI and cancer development before 21,30,[35][36][37][38] . LOI was typically not associated with survival, except for 2 SNPs in ZDBF2, a zinc finger containing protein, yet additional research is required to independently validate this finding.…”

Section: Discussionmentioning

confidence: 99%

“…For instance, aberrant biallelic expression of the imprinted IGF2 locus is thought to promote tumourigenesis by inhibiting apoptosis in colorectal cancer 19 and to lead to over-proliferation defects in lung, colon and ovarian cancer 20 . LOI of other imprinted genes, such as H19, PEG3, MEST and PLAGL1, was also discovered in varying cancers 21 .…”

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confidence: 98%

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A Comprehensive Overview of Genomic Imprinting in Breast & Its Deregulation in Cancer

Goovaerts

Steyaert

Vandenbussche

et al. 2018

Preprint

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Genomic imprinting, the parent-of-origin specific monoallelic expression of genes, plays an important role in growth and development. Loss of imprinting of individual genes has been found in varying cancers, yet data-analytical challenges have impeded systematic studies so far. We developed a mixture distribution model to detect monoallelically expressed loci in a genome-wide manner without the need for genotyping data, and applied the methodology on TCGA breast tissue RNA-seq data. We identified 35 putatively imprinted genes in healthy breast. In breast cancer however, HM13 was featured by significant loss of imprinting and expression upregulation, which could be linked to DNA demethylation. Other imprinted genes (25 out of 35) demonstrated consistent expression downregulation in breast cancer, which often correlated with loss of imprinting. A breast imprinted gene network, deregulated in cancer, might hence be present. In summary, our novel methodology highlights the massive deregulation of imprinting in breast cancer.

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