KEGG   VARIANT: 5426v1
Entry
5426v1                      Variant                                
Name
POLE mutation
Type
Loss of function
Gene
POLE  DNA polymerase epsilon, catalytic subunit [KO:K02324]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 174762
Network
nt06503  Mismatch repair
nt06504  Base excision repair
nt06509  DNA replication
Disease
H02369  IMAGE-I syndrome
H02370  FILS syndrome
H02568  Polymerase proofreading-associated polyposis
Reference
  Authors
Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
  Title
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
  Journal
BMC Med Genet 16:31 (2015)
DOI:10.1186/s12881-015-0177-y
Reference
  Authors
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP
  Title
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
  Journal
Am J Hum Genet 103:1038-1044 (2018)
DOI:10.1016/j.ajhg.2018.10.024
Reference
  Authors
Elsayed FA, Kets CM, Ruano D, van den Akker B, Mensenkamp AR, Schrumpf M, Nielsen M, Wijnen JT, Tops CM, Ligtenberg MJ, Vasen HF, Hes FJ, Morreau H, van Wezel T
  Title
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
  Journal
Eur J Hum Genet 23:1080-4 (2015)
DOI:10.1038/ejhg.2014.242
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