KEGG   VARIANT: 1499v2
Entry
1499v2                      Variant                                
Name
CTNNB1 gain-of-function mutation
Type
Gain of function
Gene
CTNNB1  catenin beta-1 isoform 1 [KO:K02105]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 116806
Network
nt06549  Cadherin signaling
Disease
H00027  Ovarian cancer
H00048  Hepatocellular carcinoma
H00947  Pilomatricoma
H01667  Medulloblastoma
Reference
  Authors
Sagae S, Kobayashi K, Nishioka Y, Sugimura M, Ishioka S, Nagata M, Terasawa K, Tokino T, Kudo R
  Title
Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas.
  Journal
Jpn J Cancer Res 90:510-5 (1999)
DOI:10.1111/j.1349-7006.1999.tb00777.x
Reference
  Authors
Legoix P, Bluteau O, Bayer J, Perret C, Balabaud C, Belghiti J, Franco D, Thomas G, Laurent-Puig P, Zucman-Rossi J
  Title
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity.
  Journal
Oncogene 18:4044-6 (1999)
DOI:10.1038/sj.onc.1202800
Reference
  Authors
Moreno-Bueno G, Gamallo C, Perez-Gallego L, Contreras F, Palacios J
  Title
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
  Journal
Br J Dermatol 145:576-81 (2001)
DOI:10.1046/j.1365-2133.2001.04455.x
Reference
  Authors
Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C, Kranenburg TA, Hogg T, Poppleton H, Martin J, Finkelstein D, Pounds S, Weiss A, Patay Z, Scoggins M, Ogg R, Pei Y, Yang ZJ, Brun S, Lee Y, Zindy F, Lindsey JC, Taketo MM, Boop FA, Sanford RA, Gajjar A, Clifford SC, Roussel MF, McKinnon PJ, Gutmann DH, Ellison DW, Wechsler-Reya R, Gilbertson RJ
  Title
Subtypes of medulloblastoma have distinct developmental origins.
  Journal
Nature 468:1095-9 (2010)
DOI:10.1038/nature09587
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