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APC Promoter 1B Variant

MedGen UID:
1766786
•Concept ID:
C5419611
•
Cell or Molecular Dysfunction
Synonym: APC Gene Promoter 1B Variant

Definition

A mutation or cytogenetic abnormality that involves the distal promoter element in the 5'' regulatory region of the APC gene on chromosome 5. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAPC Promoter 1B Variant

Recent clinical studies

Etiology

Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
Garcia-Pelaez J, Barbosa-Matos R, São José C, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C
Eur J Med Genet 2022 Jan;65(1):104401. Epub 2021 Dec 3 doi: 10.1016/j.ejmg.2021.104401. PMID: 34871783
Recent advances in the pathology of heritable gastric cancer syndromes.
Gullo I, van der Post RS, Carneiro F
Histopathology 2021 Jan;78(1):125-147. doi: 10.1111/his.14228. PMID: 33382491
GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies.
Foretová L, Navrátilová M, Svoboda M, Grell P, Nemec L, Sirotek L, Obermannová R, Novotný I, Sachlova M, Fabian P, Kroupa R, Vasickova P, Házová J, Sťahlová EH, Machackova E
Klin Onkol 2019 Summer;32(Supplementum2):109-117. doi: 10.14735/amko2019S109. PMID: 31409086
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G
Am J Hum Genet 2016 May 5;98(5):830-842. Epub 2016 Apr 14 doi: 10.1016/j.ajhg.2016.03.001. PMID: 27087319Free PMC Article

Diagnosis

Gastric fundic gland polyposis and cancer development after eradication of Helicobacter pylori in patient with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).
Okamoto K, Kawaguchi T, Kagemoto K, Kida Y, Mitsui Y, Nakamura F, Yoshikawa K, Sogabe M, Sato Y, Shunto J, Bando Y, Shimada M, Takayama T
Gastric Cancer 2024 May;27(3):635-640. Epub 2024 Feb 26 doi: 10.1007/s10120-024-01473-x. PMID: 38407681
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
Garcia-Pelaez J, Barbosa-Matos R, São José C, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C
Eur J Med Genet 2022 Jan;65(1):104401. Epub 2021 Dec 3 doi: 10.1016/j.ejmg.2021.104401. PMID: 34871783
GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies.
Foretová L, Navrátilová M, Svoboda M, Grell P, Nemec L, Sirotek L, Obermannová R, Novotný I, Sachlova M, Fabian P, Kroupa R, Vasickova P, Házová J, Sťahlová EH, Machackova E
Klin Onkol 2019 Summer;32(Supplementum2):109-117. doi: 10.14735/amko2019S109. PMID: 31409086

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