U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Constitutional mismatch repair deficiency syndrome

MedGen UID:
1378836
Concept ID:
C4321324
Disease or Syndrome
Synonyms: Biallelic Mismatch Repair Deficiency Syndrome; CMMR-D (constitutional mismatch repair deficiency) syndrome; Constitutional Mis-Match Repair Deficiency Syndrome; Constitutional Mismatch Repair Deficiency Syndrome; Constitutional MMR Deficiency
SNOMED CT: CMMR-D (constitutional mismatch repair deficiency) syndrome (764946008); Constitutional mismatch repair deficiency syndrome (764946008)

Definition

A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVConstitutional mismatch repair deficiency syndrome

Professional guidelines

PubMed

Winter K, Tan M, Briscoe E, Hyde A, Daniel Stanley J
Am Surg 2023 Sep;89(9):3953-3955. Epub 2023 Jun 1 doi: 10.1177/00031348231173987. PMID: 37260094
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U
J Med Genet 2022 Apr;59(4):318-327. Epub 2021 Feb 23 doi: 10.1136/jmedgenet-2020-107627. PMID: 33622763
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet 2014 Jun;51(6):355-65. Epub 2014 Apr 15 doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826

Recent clinical studies

Etiology

Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U
J Med Genet 2022 Apr;59(4):318-327. Epub 2021 Feb 23 doi: 10.1136/jmedgenet-2020-107627. PMID: 33622763
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U
J Clin Oncol 2021 Sep 1;39(25):2779-2790. Epub 2021 May 4 doi: 10.1200/JCO.20.02636. PMID: 33945292Free PMC Article
Kerpel A, Yalon M, Soudack M, Chiang J, Gajjar A, Nichols KE, Patay Z, Shrot S, Hoffmann C
AJNR Am J Neuroradiol 2020 May;41(5):904-910. Epub 2020 Apr 30 doi: 10.3174/ajnr.A6512. PMID: 32354708Free PMC Article
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
Wimmer K, Rosenbaum T, Messiaen L
Clin Genet 2017 Apr;91(4):507-519. Epub 2017 Jan 10 doi: 10.1111/cge.12904. PMID: 27779754

Diagnosis

Winter K, Tan M, Briscoe E, Hyde A, Daniel Stanley J
Am Surg 2023 Sep;89(9):3953-3955. Epub 2023 Jun 1 doi: 10.1177/00031348231173987. PMID: 37260094
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U
J Med Genet 2022 Apr;59(4):318-327. Epub 2021 Feb 23 doi: 10.1136/jmedgenet-2020-107627. PMID: 33622763
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U
J Clin Oncol 2021 Sep 1;39(25):2779-2790. Epub 2021 May 4 doi: 10.1200/JCO.20.02636. PMID: 33945292Free PMC Article
Wimmer K, Rosenbaum T, Messiaen L
Clin Genet 2017 Apr;91(4):507-519. Epub 2017 Jan 10 doi: 10.1111/cge.12904. PMID: 27779754
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet 2014 Jun;51(6):355-65. Epub 2014 Apr 15 doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826

Therapy

Yang C, Austin F, Richard H, Idowu M, Williamson V, Sabato F, Ferreira-Gonzalez A, Turner SA
Cold Spring Harb Mol Case Stud 2019 Oct;5(5) Epub 2019 Oct 23 doi: 10.1101/mcs.a003863. PMID: 31604779Free PMC Article
Oshrine B, Grana N, Moore C, Nguyen J, Crenshaw M, Edwards M, Sudhaman S, Forster VJ, Tabori U
Blood Adv 2019 Jun 25;3(12):1795-1798. doi: 10.1182/bloodadvances.2019000358. PMID: 31189528Free PMC Article
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
Westdorp H, Kolders S, Hoogerbrugge N, de Vries IJM, Jongmans MCJ, Schreibelt G
Cancer Lett 2017 Sep 10;403:159-164. Epub 2017 Jun 20 doi: 10.1016/j.canlet.2017.06.018. PMID: 28645564
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”
Gastroenterology 2015 Oct;149(4):1017-29.e3. Epub 2015 Jun 25 doi: 10.1053/j.gastro.2015.06.013. PMID: 26116798

Prognosis

Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U
J Clin Oncol 2021 Sep 1;39(25):2779-2790. Epub 2021 May 4 doi: 10.1200/JCO.20.02636. PMID: 33945292Free PMC Article
Kebudi R, Amayiri N, Abedalthagafi M, Rana AN, Kirmani S, Musthaq N, Lamki ZA, Houdzi JE, Yazici H, El-Naggar S, Edwards M, Bianchi VJ, Durno C, Tabori U, Bouffet E; International RRD Consortium on Low-Resource Settings Panel
Pediatr Blood Cancer 2020 Aug;67(8):e28309. Epub 2020 May 30 doi: 10.1002/pbc.28309. PMID: 32472748
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
Ripperger T, Schlegelberger B
Eur J Med Genet 2016 Mar;59(3):133-42. Epub 2015 Dec 30 doi: 10.1016/j.ejmg.2015.12.014. PMID: 26743104
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article

Clinical prediction guides

Kebudi R, Amayiri N, Abedalthagafi M, Rana AN, Kirmani S, Musthaq N, Lamki ZA, Houdzi JE, Yazici H, El-Naggar S, Edwards M, Bianchi VJ, Durno C, Tabori U, Bouffet E; International RRD Consortium on Low-Resource Settings Panel
Pediatr Blood Cancer 2020 Aug;67(8):e28309. Epub 2020 May 30 doi: 10.1002/pbc.28309. PMID: 32472748
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
Ripperger T, Schlegelberger B
Eur J Med Genet 2016 Mar;59(3):133-42. Epub 2015 Dec 30 doi: 10.1016/j.ejmg.2015.12.014. PMID: 26743104
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet 2014 Jun;51(6):355-65. Epub 2014 Apr 15 doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...