Pathogenesis - Multistep pathogenesis; multifactorial carcinogenesis & early detection

5 important questions on Pathogenesis - Multistep pathogenesis; multifactorial carcinogenesis & early detection

How does loss of heterozygosity lead to cancer?

Whereas homozygous wild types require two mutation events, just one extra mutation event in heterozygous alleles (due to deletion/mutation) can lead to loss of function

How does inheritance lead to cancer?

In inherited suscpetibilities, individuals are often heterozygous for one suppressor gene allele, making them more vulnerable to mutation events

What is an example of loss of heterozygosity leading to cancer?

Mutations in the PTEN gene that stops the cascade of growth factors
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What is particular about colon cancer?

Can start out as focal hyperplasia and lead to benign and then malignant polyps, so they can be resected before they progress.

What are the downsides to early detection?

1. Uncertainty of when to start and how often one should screen
2. Sensitivity and specificity of testing
3. Metastatic rate

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