Oncology exam 2 full summary of lectures + practice exam and answers
All for this textbook (29)
Written for
Vrije Universiteit Amsterdam (VU)
Biomedical Sciences
Oncology
All documents for this subject (41)
Seller
Follow
anacarolinaorlandin
Content preview
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.
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller anacarolinaorlandin. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $3.22. You're not tied to anything after your purchase.
