- 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 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.
Contents
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]
Synonyms
- Brain tumor-polyposis syndrome
- Glioma-polyposis syndrome
- OMIM currently includes "Turcot syndrome" under Mismatch repair cancer syndrome. Turcot syndrome is the association between familial polyposis of the colon and brain tumors[7] like medulloblastoma, malignant glioma. It was first reported by Canadian surgeon Jacques Turcot (1914- ) et al. in 1959 and hence carries the first author's name.[8]
See also
- Gardner syndrome is an association of hereditary intestinal polyps and osteomas.
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.
External links
- synd/3528 at Who Named It?
- Turcot syndrome; CNS tumors with Familial polyposis of the colon at NIH's Office of Rare Diseases
Tumors: digestive system neoplasia (C15–C26/D12–D13, 150–159/211) GI tract Upper GI tractGastric carcinoma · Signet ring cell carcinoma · Gastric lymphoma (MALT lymphoma) · Linitis plasticaUpper and/or lowerAccessory exocrine pancreas: Adenocarcinoma · Pancreatic ductal carcinoma
cystic neoplasms: Serous microcystic adenoma · Intraductal papillary mucinous neoplasm · Mucinous cystic neoplasm · Solid pseudopapillary neoplasm
PancreatoblastomaPeritoneum Metabolic disease: DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A (Aicardi–Goutières syndrome 4)
Termination/telomerase: DKC1 (Dyskeratosis congenita)DNA repair Cockayne syndrome/DeSanctis–Cacchione syndrome · Thymine dimer (Xeroderma pigmentosum) · IBIDS syndromeOtherRecQ helicase (Bloom syndrome, Werner syndrome, Rothmund–Thomson syndrome/Rapadilino syndrome) · Fanconi anemia · Li-Fraumeni syndrome · Severe combined immunodeficiencysee 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), trfkCategories:- Hereditary cancers
- Autosomal recessive disorders
- Rare diseases
- Syndromes
- Genetic disorder stubs
- Oncology stubs
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