KEGG   VARIANT: 324v1Help
Entry
324v1                      Variant                                 

Name
APC mutation
Gene
APC  APC regulator of WNT signaling pathway [KO:K02085]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation Q1338*
ClinVar: 801
dbSNP: rs121913327
Variation
mutation R332*
ClinVar: 184937
dbSNP: rs775126020
Variation
mutation G1120E
ClinVar: 802
dbSNP: rs28933379
Network
nt06215  WNT signaling
nt06260  Colorectal cancer
nt06261  Gastric cancer
  Element
N00057  Mutation-inactivated APC to Wnt signaling pathway
Reference
PMID:8187091
  Authors
Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, et al.
  Title
Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.
  Journal
Cancer Res 54:3011-20 (1994)
Reference
  Authors
Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kotting J, Kaminsky E, Propping P, Friedl W, Aretz S
  Title
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
  Journal
J Mol Diagn 11:131-9 (2009)
DOI:10.2353/jmoldx.2009.080129
Reference
  Authors
Takayama T, Miyanishi K, Hayashi T, Sato Y, Niitsu Y.
  Title
Colorectal cancer: genetics of development and metastasis.
  Journal
J Gastroenterol 41:185-92 (2006)
DOI:10.1007/s00535-006-1801-6
Reference
PMID:1651563
  Authors
Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P
  Title
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.
  Journal
Science 253:665-9 (1991)
DOI:10.1126/science.1651563
Reference
PMID:1338691
  Authors
Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y, Horii A
  Title
Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma.
  Journal
Hum Mol Genet 1:559-63 (1992)
DOI:10.1093/hmg/1.8.559
Reference
PMID:8118796
  Authors
Tamura G, Maesawa C, Suzuki Y, Tamada H, Satoh M, Ogasawara S, Kashiwaba M, Satodate R
  Title
Mutations of the APC gene occur during early stages of gastric adenoma development.
  Journal
Cancer Res 54:1149-51 (1994)
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