Mismatch repair cancer syndrome (MMRCS) is a condition associated with biallelic DNA mismatch repair mutations.[1] It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.
[edit] Genetics
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]
[edit] Synonyms
[edit] See also
- Gardner syndrome is an association of hereditary intestinal polyps and osteomas.
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 276300
- ^ 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. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=19293170.
- ^ 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.
- ^ 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.
- ^ 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. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1077-4114&volume=30&issue=3&spage=254.
- ^ 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.
- ^ "Turcot syndrome" at Dorland's Medical Dictionary
- ^ 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.
[edit] External links
|
|
|
| DNA replication |
|
|
| DNA repair |
|
|
see also DNA replication, DNA repair
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
|
|
