RB1
Type
Gene (protein-coding, tumor suppressor)
Description
RB1 (Retinoblastoma 1) encodes the pRb protein, a key tumor suppressor that regulates the G1/S cell cycle checkpoint. pRb is phosphorylated by CDK4/6-cyclin D complexes to release E2F transcription factors and permit cell cycle progression. RB1 loss or inactivation is a driver event in multiple cancer types. Acquired RB1 mutations are a mechanism of resistance to CDK4/6 inhibitors in breast cancer, detectable via ctDNA.
External identifiers
- HGNC: 9884
- NCBI Gene: 5925
- UniProt: P06400
Wiki sources
- wander2026-ctdna-cdk46-breast-cancer — RB1 mutations as CDK4/6 inhibitor resistance mechanism
- pcawg2020-pan-cancer-analysis — Pan-cancer driver catalog