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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease constitutional mismatch repair deficiency syndrome
Comorbidity C0009402|colorectal cancer
Sentences 6
PubMedID- 23472647 mismatch repair deficiency in colorectal cancer patients in a low-incidence area.
PubMedID- 26496037 Background there is evidence that colorectal cancers (crc) with dna mismatch repair deficiency (mmr-d) are associated with a better prognosis than the generality of large bowel malignancies.
PubMedID- 26391938 colorectal cancer due to constitutional mismatch repair deficiency mimicking neurofibromatosis i.
PubMedID- 23724141 Background: msh3 is a dna mismatch repair (mmr) gene that undergoes frequent somatic mutation in colorectal cancers (crcs) with mmr deficiency.
PubMedID- 26557847 Second, early onset colorectal cancers with mmr deficiency were clinically and pathologically indistinguishable from colorectal mss carcinomas.
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).

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