Mismatch repair cancer syndrome

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Mismatch repair cancer syndrome
Classification and external resources
OMIM 276300
DiseasesDB 29793
eMedicine ped/828

Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations.[1] It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.

Genetics[edit]

Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2.[2] Although these are the same genes mutated in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, the mutations are biallelic in CMMR-D.[3]

The term "childhood cancer syndrome" has also been proposed.[4][5]

Café-au-lait macules have been observed.[6]

Synonyms[edit]

See also[edit]

  • Gardner syndrome is an association of hereditary intestinal polyps and osteomas.

References[edit]

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 276300
  2. ^ Kratz CP, Holter S, Etzler J, et al. (June 2009). "Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome". J. Med. Genet. 46 (6): 418–20. doi:10.1136/jmg.2008.064212. PMID 19293170. 
  3. ^ Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?". Hum. Genet. 124 (2): 105–22. doi:10.1007/s00439-008-0542-4. PMID 18709565. 
  4. ^ Krüger S, Kinzel M, Walldorf C, et al. (January 2008). "Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1". Eur. J. Hum. Genet. 16 (1): 62–72. doi:10.1038/sj.ejhg.5201923. PMID 17851451. 
  5. ^ Tan TY, Orme LM, Lynch E, et al. (March 2008). "Biallelic PMS2 mutations and a distinctive childhood cancer syndrome". J. Pediatr. Hematol. Oncol. 30 (3): 254–7. doi:10.1097/MPH.0b013e318161aa20. PMID 18376293. 
  6. ^ Jackson CC, Holter S, Pollett A, et al. (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2". Pediatr Blood Cancer 50 (6): 1268–70. doi:10.1002/pbc.21514. PMID 18273873. 
  7. ^ "Turcot syndrome" at Dorland's Medical Dictionary
  8. ^ Turcot J, Després JP, St. Pierre F (1959). "Malignant tumors of the central nervous system associated with familial polyposis of the colon and bright green urine which may be related to vegetables in the diet: report of two cases". Dis. Colon Rectum 2: 465–8. PMID 13839882. 

External links[edit]