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Polymerase proofreading associated polyposis

MedGen UID:: 1687472
•Concept ID:: C5202613
•: Disease or Syndrome

Synonym:

Polymerase Proofreading Associated Polyposis

Definition

An autosomal dominant condition caused by mutation(s) in the POLE and/or POLD1 genes, encoding DNA polymerase epsilon catalytic subunit A and DNA polymerase delta catalytic subunit, respectively. It is characterized by colorectal polyposis and a predisposition to colorectal cancer. Mutation(s) in POLE and/or POLD1 genes have been associated with an increased risk of endometrial cancer, breast and brain tumors, and multi-tumor phenotypes. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Polymerase proofreading associated polyposis

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Hereditary cancer-predisposing syndrome
        Polymerase proofreading associated polyposis

Professional guidelines

PubMed

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M; ACMG Laboratory Quality Assurance Committee
Genet Med 2021 Oct;23(10):1807-1817. Epub 2021 Jun 17 doi: 10.1038/s41436-021-01207-9. PMID: 34140662

See all (1)

Recent clinical studies

Etiology

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG
Acta Neuropathol Commun 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. PMID: 37990341 Free PMC Article

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Rocque MJ, Leipart V, Kumar Singh A, Mur P, Olsen MF, Engebretsen LF, Martin-Ramos E, Aligué R, Sætrom P, Valle L, Drabløs F, Otterlei M, Sjursen W
Mol Genet Genomics 2023 May;298(3):555-566. Epub 2023 Mar 1 doi: 10.1007/s00438-023-02000-w. PMID: 36856825 Free PMC Article

An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.

Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K
Mol Aspects Med 2019 Oct;69:10-26. Epub 2019 Mar 18 doi: 10.1016/j.mam.2019.03.001. PMID: 30862463

Current clinical topics of Lynch syndrome.

Tanakaya K
Int J Clin Oncol 2019 Sep;24(9):1013-1019. Epub 2018 May 9 doi: 10.1007/s10147-018-1282-7. PMID: 29744602

See all (17)

Diagnosis

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.

Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, Plon SE, Tabori U
Clin Cancer Res 2024 Aug 15;30(16):3378-3387. doi: 10.1158/1078-0432.CCR-23-3994. PMID: 38860976

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P, Viana-Errasti J, García-Mulero S, Magraner-Pardo L, Muñoz IG, Pons T, Capellá G, Pineda M, Feliubadaló L, Valle L
Genome Med 2023 Oct 17;15(1):85. doi: 10.1186/s13073-023-01234-y. PMID: 37848928 Free PMC Article

An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.

Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085

The role of inherited genetic variants in colorectal polyposis syndromes.

Short E, Sampson J
Adv Genet 2019;103:183-217. Epub 2019 Jan 22 doi: 10.1016/bs.adgen.2018.11.002. PMID: 30904095

Current clinical topics of Lynch syndrome.

Tanakaya K
Int J Clin Oncol 2019 Sep;24(9):1013-1019. Epub 2018 May 9 doi: 10.1007/s10147-018-1282-7. PMID: 29744602

See all (20)

Therapy

Current clinical topics of Lynch syndrome.

Tanakaya K
Int J Clin Oncol 2019 Sep;24(9):1013-1019. Epub 2018 May 9 doi: 10.1007/s10147-018-1282-7. PMID: 29744602

See all (1)

Prognosis

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Role of POLE and POLD1 in familial cancer.

Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L
Genet Med 2020 Dec;22(12):2089-2100. Epub 2020 Aug 14 doi: 10.1038/s41436-020-0922-2. PMID: 32792570 Free PMC Article

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

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
Genet Med 2020 Sep;22(9):1533-1541. Epub 2020 May 19 doi: 10.1038/s41436-020-0828-z. PMID: 32424176

Current clinical topics of Lynch syndrome.

Tanakaya K
Int J Clin Oncol 2019 Sep;24(9):1013-1019. Epub 2018 May 9 doi: 10.1007/s10147-018-1282-7. PMID: 29744602

See all (8)