Cancer By Genes, Mutations

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🧬 The “Cancer Gene Universe” in Numbers, if we chart all known cancer drivers:

  1. 300 genes are implicated in cancer
  2. 60 genes are major recurrent drivers
  3. 15 genes cause the majority of cancers
  4. TP53, KRAS, PIK3CA, APC, PTEN, BRAF are the global heavy hitters

Legend: TSG = Tumor suppressor gene, OG = Oncogene, DR = DNA repair

Gene % of Cancers Category Notes




**TP53** **~50%** TSG Most common driver mutation in all cancers
**KRAS** **25%** OG Dominant in pancreatic, lung, colon
**PIK3CA** **14%** OG Breast, gynecologic, colon
**APC** **10%** TSG Initiator of colorectal cancer
**PTEN** **9%** TSG Many solid tumors
**BRAF** **7%** OG Melanoma, thyroid
**RB1** **7%** TSG Retinoblastoma, lung
**NF1** **5%** TSG Nervous system tumors, others
**ATM** **5%** DR DNA damage response
**IDH1/2** **4%** OG Glioma, leukemia
**CDKN2A** **4%** TSG Melanoma, pancreatic
**EGFR** **4%** OG Lung cancer
**SMAD4** **4%** TSG Pancreatic, colon
**ERBB2 (HER2)** **3%** OG Breast, gastric
**NOTCH1** **3%** OG/TSG Common in leukemias
**NFE2L2** **3%** OG Esophageal, lung
**CTNNB1** **3%** OG Liver, colon, endometrial
**ALK** ~2% OG Lung, lymphoma
**ROS1** ~1% OG Lung
**MET** ~1–2% OG Lung, kidney
**RET** ~1–2% OG Thyroid, lung
**MYC** ~1–2% OG Many aggressive cancers
**TERT promoter** ~2–3% Regulation Important in brain, bladder, liver cancers
**FAT1** ~2% TSG Squamous cancers
**ARID1A** ~2–3% TSG Ovarian, gastric
**BRCA1** ~1% DR Breast, ovarian, prostate
**BRCA2** ~2% DR Breast, prostate, pancreatic
**MLH1** ~1% DR Colon & endometrial
**PMS2, MSH2, MSH6** each ~1% DR MSI-high cancers
**FOXL2** <1% Ovarian granulosa tumors
**KIT** <1–2% Melanoma & GIST
**GNAQ/GNA11** <1% Uveal melanoma
**EWSR1 fusions** rare Ewing sarcoma
**SS18 fusions** rare Synovial sarcoma
**NPM1** <1% overall (but ~30% AML) Leukemia
**FLT3** <1% overall (but 25% AML) Leukemia
**RUNX1** <1% overall Leukemia
**HOXB13** <1% Prostate
**VHL** <1% overall Kidney cancer
**TERT promoter** varies Brain, liver, thyroid, melanoma

  

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