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| Turcot syndrome ： ウィキペディア英語版 |
Mismatch repair cancer syndrome
Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations. It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.
==Genetics==
Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. 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.
The term "childhood cancer syndrome" has also been proposed.
Café-au-lait macules have been observed.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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