KEGG   VARIANT: 1029v1
Entry
1029v1                      Variant                                
Name
CDKN2A deletion
Gene
CDKN2A  cyclin dependent kinase inhibitor 2A [KO:K06621]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
CDKN2A deletion
COSM: 12523
Network
nt06230  Cell cycle (cancer)
nt06262  Pancreatic cancer
nt06263  Hepatocellular carcinoma
nt06265  Bladder cancer
nt06268  Melanoma
nt06273  Glioma
nt06276  Chronic myeloid leukemia
Disease
H00004  Chronic myeloid leukemia
H00019  Pancreatic cancer
H00022  Bladder cancer
H00038  Melanoma
H00042  Glioma
H00048  Hepatocellular carcinoma
Reference
PMID:8555065
  Authors
Serra A, Gottardi E, Della Ragione F, Saglio G, Iolascon A
  Title
Involvement of the cyclin-dependent kinase-4 inhibitor (CDKN2) gene in the pathogenesis of lymphoid blast crisis of chronic myelogenous leukaemia.
  Journal
Br J Haematol 91:625-9 (1995)
DOI:10.1111/j.1365-2141.1995.tb05358.x
Reference
PMID:7718873
  Authors
Sill H, Goldman JM, Cross NC
  Title
Homozygous deletions of the p16 tumor-suppressor gene are associated with lymphoid transformation of chronic myeloid leukemia.
  Journal
Blood 85:2013-6 (1995)
Reference
  Authors
Berggren P, Kumar R, Sakano S, Hemminki L, Wada T, Steineck G, Adolfsson J, Larsson P, Norming U, Wijkstrom H, Hemminki K
  Title
Detecting homozygous deletions in the CDKN2A(p16(INK4a))/ARF(p14(ARF)) gene in urinary bladder cancer using real-time quantitative PCR.
  Journal
Clin Cancer Res 9:235-42 (2003)
Reference
  Authors
Orlow I, LaRue H, Osman I, Lacombe L, Moore L, Rabbani F, Meyer F, Fradet Y, Cordon-Cardo C
  Title
Deletions of the INK4A gene in superficial bladder tumors. Association with recurrence.
  Journal
Am J Pathol 155:105-13 (1999)
DOI:10.1016/S0002-9440(10)65105-X
Reference
  Authors
Sibin MK, Bhat DI, Lavanya Ch, Manoj MJ, Aakershita S, Chetan GK
  Title
CDKN2A exon-wise deletion status and novel somatic mutations in Indian glioma patients.
  Journal
Tumour Biol 35:1467-72 (2014)
DOI:10.1007/s13277-013-1201-5
Reference
  Authors
Schulze K, Imbeaud S, Letouze E, Alexandrov LB, Calderaro J, Rebouissou S, Couchy G, Meiller C, Shinde J, Soysouvanh F, Calatayud AL, Pinyol R, Pelletier L, Balabaud C, Laurent A, Blanc JF, Mazzaferro V, Calvo F, Villanueva A, Nault JC, Bioulac-Sage P, Stratton MR, Llovet JM, Zucman-Rossi J
  Title
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
  Journal
Nat Genet 47:505-511 (2015)
DOI:10.1038/ng.3252
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