Publication date: Jun 22, 2025
Loss of MLH1 expression was seen by immunohistochemistry; whole-genome sequencing of this tumor identified MMR variant signatures SBS6, ID1, and ID2. This article has been reviewed according to Science X’s editorial process and policies . DOI: 10. 1001/jamaophthalmol. 2025. 1779 Journal information: JAMA Ophthalmology 2025 HealthDay. All rights reserved.
| Concepts | Keywords |
|---|---|
| Colleagues | Alterations |
| February | Germline |
| Genetics | Jama |
| June | Lynch |
| Ophthalmology | Melanoma |
| Mismatch | |
| Mlh1 | |
| Mmr | |
| Ophthalmology | |
| Pathogenic | |
| Repair | |
| Syndrome | |
| Tumor | |
| Uveal | |
| Variants |
Semantics
| Type | Source | Name |
|---|---|---|
| disease | MESH | Lynch syndrome |
| disease | MESH | monosomy |
| disease | MESH | cancer |
| disease | MESH | uveal melanoma |
| pathway | REACTOME | Mismatch Repair |
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