KEGG   DISEASE: Polymerase proofreading-associated polyposis
Entry
H02568                      Disease                                
Name
Polymerase proofreading-associated polyposis
  Supergrp
Colorectal cancer [DS:H00020]
Solid tumor [DS:H02421]
Description
Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumors.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of digestive organs
     Malignant neoplasms of intestine
      Malignant neoplasms of large intestine
       2B90  Malignant neoplasms of colon
        H02568  Polymerase proofreading-associated polyposis
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06504  Base excision repair
   H02568  Polymerase proofreading-associated polyposis
  nt06503  Mismatch repair
   H02568  Polymerase proofreading-associated polyposis
Pathway
hsa03410  Base excision repair
hsa03420  Nucleotide excision repair
hsa03430  Mismatch repair
hsa03030  DNA replication
Network
nt06503 Mismatch repair
nt06504 Base excision repair
Gene
POLD1 [HSA:5424] [KO:K02327]
POLE [HSA:5426] [KO:K02324]
Other DBs
ICD-11: 2B90.Y
OMIM: 612591 615083
Reference
PMID:33948826
  Authors
Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V, Heitzer E, Kerr R, Kerr D, Kearsey S, Clark SK, Tomlinson I, Latchford A
  Title
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
  Journal
Fam Cancer 21:197-209 (2022)
DOI:10.1007/s10689-021-00256-y
Reference
PMID:26133394
  Authors
Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L
  Title
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
  Journal
Genet Med 18:325-32 (2016)
DOI:10.1038/gim.2015.75
Reference
PMID:32548621 (POLD1)
  Authors
Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H
  Title
The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
  Journal
Jpn J Clin Oncol 50:1080-1083 (2020)
DOI:10.1093/jjco/hyaa090
Reference
PMID:32424176 (POLE)
  Authors
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E
  Title
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
  Journal
Genet Med 22:1533-1541 (2020)
DOI:10.1038/s41436-020-0828-z
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