# Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas

**Authors:** Ahmet Uğur Atılan, Niyazi Cetin

PMC · DOI: 10.1016/j.abd.2025.501282 · 2026-01-15

## Full-text entities

- **Genes:** NFKB1 (nuclear factor kappa B subunit 1) [NCBI Gene 4790] {aka CVID12, EBP-1, KBF1, NF-kB, NF-kB1, NF-kappa-B1}, MT1IP (metallothionein 1I, pseudogene) [NCBI Gene 644314] {aka MT1, MT1I, MTE}, CYLD (CYLD lysine 63 deubiquitinase) [NCBI Gene 1540] {aka BRSS, CDMT, CYLD1, CYLDI, EAC, FTDALS8}
- **Diseases:** BCC (MESH:D002280), skin diseases (MESH:D012871), cylindroma (MESH:D003528), papular (MESH:C537169), sebaceous adenoma (MESH:D000236), ORCID ID (MESH:C537985), cutaneous syndrome (MESH:D044542), autosomal dominant neoplasm (MESH:D009369), adenoma sebaceum (MESH:D014402), papules (MESH:D000169), Multiple Trichoepithelioma (MESH:C536611), spiradenoma (MESH:D018250), syringoma (MESH:D018252), adnexal tumor syndromes (MESH:D000292), skin tumor (MESH:D012878)
- **Chemicals:** Gly (MESH:D005998), Val (MESH:D014633)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** Gly Val, c.2687G>T, c.2687G>T, p.Gly896Val, 2687 G > G, p.Gly896Ala, p.Gly896Val
- **Cell lines:** NM_015247.2 — Bos taurus (Bovine), Finite cell line (CVCL_3074)

## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12834918/full.md

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Source: https://tomesphere.com/paper/PMC12834918