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]
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.[citation needed]
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. Diagnostic testing consists of a blood sample being collected, and a genetic specialist compares two copies of a patient's gene to normal MMR genes. If there are differences in the genes, the specialists are able to further test and decide if the patient has the deficiency. [7]
Treatment
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History
OMIM currently includes "Turcot syndrome" under Mismatch repair cancer syndrome. Turcot syndrome is the association between familial polyposis of the colon and
brain tumors[8] like
medulloblastoma,
malignantglioma. It was first reported by
CanadiansurgeonJacques Turcot (1914-1977 ) et al. in 1959 and hence carries the first author's name.[9]
^Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?". Human Genetics. 124 (2): 105–22.
doi:
10.1007/s00439-008-0542-4.
PMID18709565.
S2CID32654505.
^Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L (March 2008). "Biallelic PMS2 mutations and a distinctive childhood cancer syndrome". Journal of Pediatric Hematology/Oncology. 30 (3): 254–7.
doi:
10.1097/MPH.0b013e318161aa20.
PMID18376293.
^Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2". Pediatric Blood & Cancer. 50 (6): 1268–70.
doi:
10.1002/pbc.21514.
PMID18273873.
S2CID34238025.
^Turcot J, Despres JP, St Pierre F (1959). "Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases". Diseases of the Colon and Rectum. 2: 465–8.
doi:
10.1007/bf02616938.
PMID13839882.
S2CID27477524.