This is an auto-generated stub page built from atlas entry frontmatter. A richer
hand-crafted page is planned. See the
atlas source
for the full entry including detailed body sections.
nf1
NF1
NF1 (neurofibromin) is a RasGAP; LOF → sustained RAS-GTP → MAPK/PI3K hyperactivation; germline NF1 syndrome: café-au-lait macules, neurofibromas, MPNST risk ~10%; somatic NF1 loss in GBM, NSCLC, melanoma; MEK inhibitor selumetinib FDA-approved for NF1 plexiform neurofibromas.
Entry Metadata
| Field | Value |
|---|---|
| ID | nf1 |
| Name | NF1 |
| Status | draft |
| Last reviewed | 2026-06-06 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513. · PubMed 33976407
- Dombi E, Baldwin A, Marcus LJ, et al. Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas. N Engl J Med. 2016;375(26):2550-2560. · PubMed 28029918