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mismatch repair cancer syndrome

MIM.276300

Monday 5 May 2008

Constitutional mismatch repair-deficiency syndrome (CMMR-D syndrome) or mismatch repair cancer syndrome (MRCS) is caused by homozygous or compound heterozygous mutations in the mismatch repair (MMR) genes MLH1 (MIM.120436), MSH2 (MIM.609309), MSH6 (MIM.600678), or PMS2 (MIM.600259).

Tumor predisposition

- ependymoma
- glioblastoma
- oligodendroglioma
- neuroblastoma
- astrocytoma
- medulloblastoma
- basal cell carcinoma
- colorectal adenocarcinoma
- leukemia
- lymphoma
- rhabdomyosarcoma (#19293170#)

Types

- MMR-associated childhood cancer syndrome (MMR-CCS)

See also

- MMR genes
- hereditary nonpolyposis colorectal cancer (HNPCCs)
- mismatch repair deficiency (MMR deficiency)

  • constitutional mismatch repair deficiency (constitutional MMR deficiency)
  • somatic mismatch repair deficiency (somatic MMR deficiency)

Open references

- Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Plaschke J, Linnebacher M, Kloor M, Gebert J, Cremer FW, Tinschert S, Aust DE, von Knebel Doeberitz M, Schackert HK. Eur J Hum Genet. 2006 May;14(5):561-6. PMID: #16418736# (Free)

- A homozygous mutation in MSH6 causes Turcot syndrome. Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. Clin Cancer Res. 2005 Jul 1;11(13):4689-93. PMID: #16000562# [Free]

- Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. Am J Hum Genet. 2004 May;74(5):954-64. PMID: #15077197# [Free]

References

- Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Wimmer K, Etzler J. Hum Genet. 2008 Sep;124(2):105-22. PMID: #18709565#

- Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L. J Pediatr Hematol Oncol. 2008 Mar;30(3):254-7. PMID: #18376293#

- Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Alotaibi H, Ricciardone MD, Ozturk M. Mutat Res. 2008 Jan 1;637(1-2):209-14. PMID: #17889038#

- Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK. Eur J Hum Genet. 2008 Jan;16(1):62-72. PMID: #17851451#

- Constitutive deficiency in DNA mismatch repair. Felton KE, Gilchrist DM, Andrew SE. Clin Genet. 2007 Jun;71(6):483-98. PMID: 17539897

- PMS2 mutations in childhood cancer. De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E. J Natl Cancer Inst. 2006 Mar 1;98(5):358-61. PMID: #16507833#

- Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Bandipalliam P. Fam Cancer. 2005;4(4):323-33. PMID: #16341812#

- Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE, Chan HS. Gastroenterology. 2004 Feb;126(2):576-85. PMID: #14762794#

- Childhood Brain Tumours Due To Germline Bi-Allelic Mismatch Repair Gene Mutations. Johannesma PC, van der Klift HM, van Grieken NC, Troost D, Te Riele H, Jacobs MA, Postma TJ, Heideman DA, Tops CM, Wijnen JT, Menko FH. Clin Genet. 2011 Jan 24. PMID: #21261604#

- Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. Leenen C, Geurts-Giele W, Dubbink H, Reddingius R, van den Ouweland A, Tops C, van de Klift H, Kuipers E, van Leerdam M, Dinjens W, Wagner A. Clin Genet. 2010 Dec 6. PMID: #21204794#

- Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K. J Med Genet. 2009 Jun;46(6):418-20. #19293170#

- Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Alotaibi H, Ricciardone MD, Ozturk M. Mutat Res. 2008 Jan 1;637(1-2):209-14. PMID: #17889038#

- Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L. J Pediatr Hematol Oncol. 2008 Mar;30(3):254-7. PMID: #18376293#

- Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK. Eur J Hum Genet. 2008 Jan;16(1):62-72. PMID: #17851451#

- Constitutive deficiency in DNA mismatch repair. Felton KE, Gilchrist DM, Andrew SE. Clin Genet. 2007 Jun;71(6):483-98. PMID: #17539897#

- Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN; Rotterdam Initiative on Gastrointestinal Hereditary Tumors. Cancer. 2007 Jun 1;109(11):2349-56. PMID: #17440981#

- PMS2 mutations in childhood cancer. De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E. J Natl Cancer Inst. 2006 Mar 1;98(5):358-61. PMID: #16507833#

- A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. Müller A, Schackert HK, Lange B, Rüschoff J, Füzesi L, Willert J, Burfeind P, Shah P, Becker H, Epplen JT, Stemmler S. Am J Med Genet A. 2006 Feb 1;140(3):195-9. PMID: #16372347#

- Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Bandipalliam P. Fam Cancer. 2005;4(4):323-33. PMID: #16341812#

- Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE, Chan HS. Gastroenterology. 2004 Feb;126(2):576-85. PMID: #14762794#

- Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes. de Vos M, Hayward B, Bonthron DT, Sheridan E. Biochem Soc Trans. 2005 Aug;33(Pt 4):718-20. PMID: #16042583#

- A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ. Fam Cancer. 2004;3(2):123-7. PMID: #15340263#

- Hereditary nonpolyposis colorectal cancer and related conditions. Lucci-Cordisco E, Zito I, Gensini F, Genuardi M. Am J Med Genet A. 2003 Nov 1;122A(4):325-34. PMID: #14518071#