22 Questions
What is the percentage of breast cancer cases that are inherited?
5-7%
What is the primary function of BRCA proteins?
Regulating cell cycle and DNA repair
What is the result of loss of PTEN activity?
Unregulated cell proliferation and carcinogenesis
What is the characteristic of PTEN mutations in Cowden syndrome?
Autosomal dominant inheritance with a dominant negative effect
What is the estimated frequency of Cowden syndrome in the population?
1:20,000
What is the percentage of prostate cancers that have mutant PTEN?
70%
Which protein binds to responsive elements in gene promoters as a tetramer?
p53
What is the consequence of a mutation in p53 alleles?
Dominant negative effect
What is the role of p21 in cell cycle regulation?
Inhibits Cyclin D/Cdk4
What is the consequence of extensive DNA damage in a cell?
Immediate apoptosis
What is the role of p53 in angiogenesis?
Inhibits angiogenesis
What is the characteristic of Li-Fraumeni syndrome (LFS)?
Inherited mutations in the p53 gene
What is the result of some specific p53 mutations?
Dominant negative effect
What is the effect of HPV E7 on Rb?
Inactivates Rb
What is the role of p21 in DNA synthesis and repair?
Binds to PCNA
What is the consequence of a lack of functional p53?
Poor apoptosis
What is the function of HPV E6 in infected cells?
Prevents apoptosis of infected cells
What is the impact of having both Arg alleles in the p53 gene?
Higher mutation rate
What is the goal of combination therapies in cancer treatment?
To make treatment more effective
Why do tumour cells vary in their sensitivity to therapy?
Due to differences in cell type, proliferation rate, and DNA repair efficacy
What is the goal of chemotherapy in cancer treatment?
To cause DNA damage and induce apoptosis
What is the purpose of clinical trials in drug development?
To test the safety of new drugs in humans
Learn about the BRCA 1 and 2 genes, their role in breast and ovarian cancer susceptibility, and the risks associated with inherited mutations. Understand the autosomal recessive inheritance pattern and the individual lifetime risk of cancer.
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