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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

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

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

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

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

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