Mismatch repair cancer syndrome
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) and by several other names.[1]
In MMRCS, neoplasia typically occurs in both the gut and the central nervous system (CNS).[1] In the large intestine, multiple colonic polyps develop; in the CNS, brain tumors.
Genetics[edit | edit source]
Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2.[2] Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, while biallelic mutations are observed in CMMR-D.[3] People expressing the HNPCC (which itself is considered autosomal dominant) trait are considered carriers of CMMR-D, thus CMMR-D is classified as autosomal recessive.
The term "childhood cancer syndrome" has also been proposed.[4][5] Café-au-lait macules have been observed.[6]
Diagnosis[edit | edit source]
Childhood to early adult onset HNPCC + malignant gliomas. The polyps developed tend to be larger, fewer, and progress to malignancy earlier than those seen in familial adenomatous polyposis[1], a clinically similar condition with different underlying mutations.
Treatment[edit | edit source]
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History[edit | edit source]
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 (1914-1977 ) et al. in 1959 and hence carries the first author's name.[8]
See also[edit | edit source]
- Gardner syndrome is an association of hereditary intestinal polyps, osteomas (typically of the skull), papillary thyroid cancer, and desmoid tumors with association to familial adenomatous polyposis.
References[edit | edit source]
- ↑ 1.0 1.1 1.2 1.3 Online Mendelian Inheritance in Man (OMIM) 276300
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- ↑ "Turcot syndrome" at Dorland's Medical Dictionary
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External links[edit | edit source]
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External resources |
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.- Articles to be expanded from July 2017
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- Hereditary cancers
- Autosomal recessive disorders
- Rare diseases
- Syndromes with tumors
- DNA replication and repair-deficiency disorders
- Syndromes affecting the nervous system
- Syndromes affecting the gastrointestinal tract
Contributors: Prab R. Tumpati, MD