U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Replication Error

MedGen UID:
271105
•Concept ID:
C1514850
•
Cell or Molecular Dysfunction
Synonym: RER

Definition

A Replication Error results from the covalent addition of an incorrect nucleotide subunit, or the lack of addition of a nucleotide subunit, during polymerization of the growing newly synthesized DNA strand during replication. (NCI) [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReplication Error

Professional guidelines

PubMed

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Choice of management strategy for colorectal cancer based on a diagnostic immunohistochemical test for defective mismatch repair.
Cawkwell L, Gray S, Murgatroyd H, Sutherland F, Haine L, Longfellow M, O'Loughlin S, Cross D, Kronborg O, Fenger C, Mapstone N, Dixon M, Quirke P
Gut 1999 Sep;45(3):409-15. doi: 10.1136/gut.45.3.409. PMID: 10446111Free PMC Article

Recent clinical studies

Etiology

DNA damage in testicular germ cells and spermatozoa. When and how is it induced? How should we measure it? What does it mean?
Aitken RJ, Lewis SEM
Andrology 2023 Nov;11(8):1545-1557. Epub 2023 Jan 16 doi: 10.1111/andr.13375. PMID: 36604857
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Genetic landscape of sporadic vestibular schwannoma.
Håvik AL, Bruland O, Myrseth E, Miletic H, Aarhus M, Knappskog PM, Lund-Johansen M
J Neurosurg 2018 Mar;128(3):911-922. Epub 2017 Apr 14 doi: 10.3171/2016.10.JNS161384. PMID: 28409725
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104
Genetics of hereditary colon cancer.
de la Chapelle A, Peltomäki P
Annu Rev Genet 1995;29:329-48. doi: 10.1146/annurev.ge.29.120195.001553. PMID: 8825478

Diagnosis

Tumor acidosis-induced DNA damage response and tetraploidy enhance sensitivity to ATM and ATR inhibitors.
Aubert L, Bastien E, Renoult O, Guilbaud C, Özkan K, Brusa D, Bouzin C, Richiardone E, Richard C, Boidot R, Léonard D, Corbet C, Feron O
EMBO Rep 2024 Mar;25(3):1469-1489. Epub 2024 Feb 16 doi: 10.1038/s44319-024-00089-7. PMID: 38366255Free PMC Article
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A, Meade J, Scheie D, Østrup O, Bertelsen B, Misiakou MA, Sarosiek T, Kessler E, Melchior LC, Munch-Petersen HF, Pai RK, Schmuth M, Gottschling H, Zschocke J, Gallon R, Wimmer K
Hum Mutat 2022 Jan;43(1):85-96. Epub 2021 Dec 2 doi: 10.1002/humu.24299. PMID: 34816535
Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients.
Copija A, Waniczek D, Witkoś A, Walkiewicz K, Nowakowska-Zajdel E
Int J Mol Sci 2017 Jan 6;18(1) doi: 10.3390/ijms18010107. PMID: 28067827Free PMC Article
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104

Therapy

Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients.
Copija A, Waniczek D, Witkoś A, Walkiewicz K, Nowakowska-Zajdel E
Int J Mol Sci 2017 Jan 6;18(1) doi: 10.3390/ijms18010107. PMID: 28067827Free PMC Article
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.
Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M
J Neuromuscul Dis 2016 May 27;3(2):227-245. doi: 10.3233/JND-150134. PMID: 27854212
The (not so) immortal strand hypothesis.
Tomasetti C, Bozic I
Stem Cell Res 2015 Mar;14(2):238-41. Epub 2015 Jan 24 doi: 10.1016/j.scr.2015.01.005. PMID: 25700960Free PMC Article
Inflammation and endometrial cancer: a hypothesis.
Modugno F, Ness RB, Chen C, Weiss NS
Cancer Epidemiol Biomarkers Prev 2005 Dec;14(12):2840-7. doi: 10.1158/1055-9965.EPI-05-0493. PMID: 16364998
Safety issues in assisted reproduction technology. From theory to reality--just what are the data telling us about ICSI offspring health and future fertility and should we be concerned?
Kurinczuk JJ
Hum Reprod 2003 May;18(5):925-31. doi: 10.1093/humrep/deg217. PMID: 12721163

Prognosis

Tumor acidosis-induced DNA damage response and tetraploidy enhance sensitivity to ATM and ATR inhibitors.
Aubert L, Bastien E, Renoult O, Guilbaud C, Özkan K, Brusa D, Bouzin C, Richiardone E, Richard C, Boidot R, Léonard D, Corbet C, Feron O
EMBO Rep 2024 Mar;25(3):1469-1489. Epub 2024 Feb 16 doi: 10.1038/s44319-024-00089-7. PMID: 38366255Free PMC Article
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients.
Copija A, Waniczek D, Witkoś A, Walkiewicz K, Nowakowska-Zajdel E
Int J Mol Sci 2017 Jan 6;18(1) doi: 10.3390/ijms18010107. PMID: 28067827Free PMC Article
The role of the E-cadherin/catenin complex in gastrointestinal cancer.
Debruyne P, Vermeulen S, Mareel M
Acta Gastroenterol Belg 1999 Oct-Dec;62(4):393-402. PMID: 10692769
Genetics of hereditary colon cancer.
de la Chapelle A, Peltomäki P
Annu Rev Genet 1995;29:329-48. doi: 10.1146/annurev.ge.29.120195.001553. PMID: 8825478

Clinical prediction guides

Tumor acidosis-induced DNA damage response and tetraploidy enhance sensitivity to ATM and ATR inhibitors.
Aubert L, Bastien E, Renoult O, Guilbaud C, Özkan K, Brusa D, Bouzin C, Richiardone E, Richard C, Boidot R, Léonard D, Corbet C, Feron O
EMBO Rep 2024 Mar;25(3):1469-1489. Epub 2024 Feb 16 doi: 10.1038/s44319-024-00089-7. PMID: 38366255Free PMC Article
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients.
Copija A, Waniczek D, Witkoś A, Walkiewicz K, Nowakowska-Zajdel E
Int J Mol Sci 2017 Jan 6;18(1) doi: 10.3390/ijms18010107. PMID: 28067827Free PMC Article
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104
Genetics of hereditary colon cancer.
de la Chapelle A, Peltomäki P
Annu Rev Genet 1995;29:329-48. doi: 10.1146/annurev.ge.29.120195.001553. PMID: 8825478

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...