eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | constitutional mismatch repair deficiency syndrome |
| Comorbidity | C0476089|endometrial cancers |
| Sentences | 3 |
| PubMedID- 25194673 | Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. |
| PubMedID- 25328415 | When the data from published studies are combined, 59% (95% confidence interval [ci]: 55% to 64%) of colorectal cancers and 52% (95% ci: 41% to 62%) of endometrial cancers with mmr deficiency were identified as suspected lynch syndrome. |
| PubMedID- 23887303 | In conclusion, baf250a loss is more common in high-grade endometrioid carcinomas than in other high-grade endometrial cancers and is associated with mismatch repair deficiency and normal p53 expression. |
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