Mismatch repair cancer syndrome
Template:Infobox medical condition (new) Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations.<ref name="omim_276300">{{#ifeq:|none||{{#switch: | short = OMIM: | shortlink = OMIM: | plain = Online Mendelian Inheritance in Man: | full | #default = Online Mendelian Inheritance in Man (OMIM):}}}} {{#if: |{{{2}}} - }} 276300</ref> It is also known as Turcot syndrome (after Jacques Turcot, who described the condition in 1959) and by several other names.<ref name="omim_276300" />
In MMRCS, neoplasia typically occurs in both the gut and the central nervous system (CNS).<ref name="omim_276300" /> In the large intestine, multiple colonic polyps develop; in the CNS, brain tumors.
Genetics
Under the name constitutional mismatch repair-deficiency (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2.<ref name="pmid19293170">Template:Cite journal</ref> 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.<ref name="pmid18709565">Template:Cite journal</ref> 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.Template:Citation needed
The term "childhood cancer syndrome" has also been proposed.<ref name="pmid17851451">Template:Cite journal</ref><ref name="pmid18376293">Template:Cite journal</ref> Café-au-lait macules have been observed.<ref name="pmid18273873">Template:Cite journal</ref>
Diagnosis
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,<ref name="omim_276300">{{#ifeq:|none||{{#switch: | short = OMIM: | shortlink = OMIM: | plain = Online Mendelian Inheritance in Man: | full | #default = Online Mendelian Inheritance in Man (OMIM):}}}} {{#if: |{{{2}}} - }} 276300</ref> 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. <ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref>
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<ref>Template:DorlandsDict</ref> 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.<ref>Template:Cite journal</ref>
See also
References
External links
Template:Digestive system neoplasia Template:DNA repair-deficiency disorder