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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease constitutional mismatch repair deficiency syndrome
Comorbidity C1333990|hereditary nonpolyposis colorectal cancer
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PubMedID- 20154325 mismatch repair deficiency is the cause of hereditary nonpolyposis colorectal cancer but may also be involved in the development of a subset of sporadic tumors (6).
PubMedID- 20368736 mmr deficiency is associated with human hereditary nonpolyposis colorectal cancer and a modest percentage (up to 15%) of several common sporadic solid tumors, indicating that mmr functions as an important tumor suppression mechanism [3].

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