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Summary Oncogenic mutations sites in relevant proto and oncogenes £2.60
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Summary Oncogenic mutations sites in relevant proto and oncogenes
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  • Module
  • Oncology
  • Institution
  • Vrije Universiteit Amsterdam (VU)
  • Book
  • Molecular Biology of Cancer

This is a brief list of most common domain mutations in each of the most important proteins that are involved in the oncogenic cell cycle.

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  • Yes
  • July 4, 2023
  • 2
  • 2022/2023
  • Summary

Subjects

  • mutations
  • oncogenes
  • proto oncogenes

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  • Vrije Universiteit Amsterdam (VU)
  • Biomedical Sciences
  • Oncology
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Oncogenic mutations can occur in various regions of proto-oncogenes or tumor suppressor genes,
leading to the conversion of normal cellular proteins into oncogenic proteins. These mutations can
affect different functional domains or regulatory elements of the proteins. Here is a list of various
important proteins involved in the regulation of the cell cycle and their respective regions where
oncogenic mutations can occur

1. TP53 (p53): Mutations in the TP53 gene occur predominantly in the DNA-binding domain,
impairing its tumor suppressor function.

2. KRAS: Mutations in KRAS commonly occur in codons 12, 13, or 61, leading to constitutive
activation of the protein and promoting cell proliferation.

3. EGFR: Mutations in the EGFR gene often occur in the tyrosine kinase domain, resulting in
hyperactivation of the EGFR signaling pathway.

4. BRCA1 and BRCA2: Mutations in these genes, often found in specific domains, such as the DNA-
binding domain or BRCT repeats, impair DNA repair mechanisms and increase the risk of breast and
ovarian cancers.

5. PTEN: Mutations in PTEN can occur throughout the gene, leading to loss of its phosphatase
activity and dysregulation of the PI3K/AKT signaling pathway.

6. APC: Mutations in the APC gene cluster around the mutation cluster region (MCR), which disrupts
the regulation of Wnt signaling and contributes to colorectal cancer development.

7. RET: Mutations in RET commonly occur in the tyrosine kinase domain, resulting in constitutive
activation of the RET signaling pathway and predisposing individuals to multiple endocrine
neoplasia (MEN) syndromes.

8. MYC: Amplification and overexpression of the MYC gene are common in various cancers, including
Burkitt lymphoma and some solid tumors. Mutation in c-Myc are usually in the threonine residue at
position 58 of the protein.

9. BCR-ABL1: In chronic myeloid leukemia (CML), a chromosomal translocation creates the BCR-ABL1
fusion protein with constitutive tyrosine kinase activity.

10. HER2 (ERBB2): Amplification and overexpression of HER2 occur in a subset of breast and gastric
cancers, leading to increased HER2 signaling. Oncogenic mutations can occur in the transmembrane
or kinase domain.

11. BRAF: The V600E mutation in the kinase domain is a common oncogenic mutation in BRAF,
resulting in constitutive activation of downstream signaling.

12. CDK4: Mutations in CDK4 can occur in the cyclin-binding domain, disrupting its normal regulation
of cell cycle progression.

13. Cyclin D1 (CCND1): Amplification or overexpression of Cyclin D1 can occur, leading to aberrant cell
cycle regulation.

14. RB1: Oncogenic mutations in RB1 can occur in various domains, including the pocket domain or
sites crucial for interaction with E2F transcription factors.

15. NOTCH1: Oncogenic mutations in NOTCH1 can occur in various domains, disrupting its normal
signaling and contributing to abnormal cell proliferation.

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