Pathways affected in adenoid cystic carcinoma (WP3651)

Protein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and notch signalling. In the epigenetic modification pathway, several complexes promote the activity of HIST1H1E/HIST1H2AL which regulate chromatin remodeling. In the DNA damage pathway DNA damage in the nucleus signals to ATM and PRKDC to induce DNA repair and suspend the cell cycle. ATM further activates proteins that induce either apoptosis or DNA repair and leads to the activation of proteins that inhibit progression in the cell cycle. The MYB/MYC pathway involves the activation of protein complexes involved in inducing cell growth and proliferation by CREBBP and MYCBP. However this pathway has feedback inhibition by the binding of the MYBL1/MYB complex to NFIB which depresses MYB activity. The FGF/IGF/PI3K signalling pathway involves the activation of the FGFR4/INSRR complex by FGF16 and ERBB2 activation by ERBB2IP which leads to a signalling cascade that inhibits apoptosis and promotes cell growth and migration. The notch pathway is activated by the biding of CNTN6 to Notch leading to pathway activation. This pathway is regulated by RoxP2, CTBP1, and DTX4/FBXW7. These pathways are from figure 4 from Ho et al. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP3651 CPTAC Assay Portal]
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Authors

AAR&Co, Khanspers, and Eweitz

Cited In

Organism

Homo sapiens

Communities

Diseases

Annotations

Disease Ontology: breast adenoid cystic carcinoma

Pathway Ontology: DNA damage response pathway S phase pathway chromatin remodeling pathway

Participants

Label Type Compact Identifier
HIST1H1E GeneProduct ensembl:ENSG00000168298
HIST1H2AL GeneProduct ensembl:ENSG00000276903
PRKDC GeneProduct ensembl:ENSG00000253729
BRD1 GeneProduct ensembl:ENSG00000100425
SMARCE1 GeneProduct ensembl:ENSG00000073584
Growth/Proliferation Pathway wikipathways:WP179
NFIB GeneProduct ensembl:ENSG00000147862
DTX4 GeneProduct ensembl:ENSG00000110042
ATM GeneProduct ensembl:ENSG00000149311
CNTN6 GeneProduct ensembl:ENSG00000134115
ARID4B GeneProduct ensembl:ENSG00000054267
MYCBP GeneProduct ensembl:ENSG00000214114
Chk1 Protein uniprot:E7EPP6
Chk2 Protein uniprot:C9JFD7
MYCN GeneProduct ensembl:ENSG00000134323
MORF4L1 GeneProduct ensembl:ENSG00000185787
S-Phase Progression Pathway wikipathways:WP2772
ERBB2 GeneProduct ensembl:ENSG00000141736
FBXW7 GeneProduct ensembl:ENSG00000109670
HRAS GeneProduct ensembl:ENSG00000174775
SMARCA2 GeneProduct ensembl:ENSG00000080503
FOXP2 GeneProduct ensembl:ENSG00000128573
MYBL1 GeneProduct ensembl:ENSG00000185697
TP53 GeneProduct ensembl:ENSG00000141510
Apoptosis Pathway wikipathways:WP254
MAML3 GeneProduct ensembl:ENSG00000196782
Growth Control/Homeostasis Pathway wikipathways:WP179
FGFR4 GeneProduct ensembl:ENSG00000160867
MAGI2 GeneProduct ensembl:ENSG00000187391
EP300 GeneProduct ensembl:ENSG00000100393
MYC GeneProduct hgnc.symbol:MYC
JMJD1C GeneProduct ensembl:ENSG00000171988
CMTR2 GeneProduct ensembl:ENSG00000180917
BCORL1 GeneProduct ensembl:ENSG00000085185
DNA Repair Pathway wikipathways:WP3381
MGA GeneProduct ensembl:ENSG00000174197
ERBB2IP GeneProduct ensembl:ENSG00000112851
MAGI1 GeneProduct ensembl:ENSG00000151276
SMARCA2 GeneProduct ensembl:ENSG00000080503
KAT6A GeneProduct ensembl:ENSG00000083168
SMC1A GeneProduct ensembl:ENSG00000072501
CEBPA GeneProduct ensembl:ENSG00000245848
Cell Growth/Migration Pathway None
CREBBP GeneProduct ensembl:ENSG00000005339
PIK3CA GeneProduct ensembl:ENSG00000121879
UHRF1 GeneProduct ensembl:ENSG00000276043
ATRX GeneProduct ensembl:ENSG00000085224
KDM6B GeneProduct ensembl:ENSG00000132510
MYCN GeneProduct ensembl:ENSG00000134323
MYB GeneProduct ensembl:ENSG00000118513
RAF1 GeneProduct ensembl:ENSG00000132155
PTEN GeneProduct ensembl:ENSG00000171862
TLK1 GeneProduct ensembl:ENSG00000198586
NSD1 GeneProduct ensembl:ENSG00000165671
KMT2C GeneProduct ensembl:ENSG00000055609
KDM6A GeneProduct ensembl:ENSG00000147050
AKT1 GeneProduct ensembl:ENSG00000142208
G2/M Progression Pathway wikipathways:WP179
KANSL1 GeneProduct ensembl:ENSG00000120071
BCOR GeneProduct ensembl:ENSG00000183337
FOXO3 GeneProduct ensembl:ENSG00000118689
FGF16 GeneProduct ensembl:ENSG00000196468
MAX GeneProduct ensembl:ENSG00000125952
SETD2 GeneProduct ensembl:ENSG00000181555
CTBP1 GeneProduct ensembl:ENSG00000159692
NOTCH1 GeneProduct ensembl:ENSG00000148400
INSRR GeneProduct ensembl:ENSG00000027644
MAP2K2 GeneProduct ensembl:ENSG00000126934
SRCAP GeneProduct ensembl:ENSG00000080603
BRCA1 GeneProduct ensembl:ENSG00000012048
CDC2 GeneProduct ncbiprotein:78070384
CREBBP GeneProduct ensembl:ENSG00000005339
ARID5B GeneProduct ensembl:ENSG00000150347
NCOR1 GeneProduct ensembl:ENSG00000141027
ARID1A GeneProduct ensembl:ENSG00000117713
Chromatin Remodeling Pathway wikipathways:WP3362
IL17RD GeneProduct ensembl:ENSG00000144730
CREBBP GeneProduct ensembl:ENSG00000005339
DNA Repair Pathway wikipathways:WP3381
Growth/Proliferation Pathway wikipathways:WP179
Apoptosis Pathway wikipathways:WP254
NICD GeneProduct ensembl:ENSG00000148400

References

  1. Ho AS, Kannan K, Roy DM, Morris LGT, Ganly I, Katabi N, et al. The mutational landscape of adenoid cystic carcinoma. Nat Genet. 2013 Jul;45(7):791–8. PubMed Europe PMC Scholia