Question: how can you figure out what genetic mutations are behind tumours as I'm very interested in learning about diseases and genetics!

Nicholas Younger answered on 10 Mar 2017:

Hey!

This is a long answer, but this is what I do every day so I have a lot to say about it! I’ll explain as best as I can.

There are a few ways.

If you start off with healthy, non-cancerous cells and introduce specific mutations one at a time, eventually you will find ones that can turn the cells into cancer cells. You know that they’re cancer cells because they will make more cells uncontrollably, and they might look different too. By doing this on a large scale you can identify new genes which can cause cancer. This experimental process is called “mutagenesis screening”.

Also, you can predict which genes might be involved. If you know that a gene is particularly important for something like controlling how a cell grows, then you can guess that if it breaks due to a mutation then that might cause cancer.

There are ways too, that use computers. If you have the DNA from the tumours of a group of people with the same cancer (the more the better), you can see which mutations are in each person’s tumour DNA. Then you can look at all the mutations in all the people and see which ones come up again and again in the patients. If you have a gene which is mutated in most of your patients then you can assume that this is a mutations which is causing the cancer.

You can use all of these things together. To answer the same question.

I hope this answers your question, but if you want me to explain more I’m happy to!