Science Fair Project - Bioinformatics - Lynch Syndrome

[CBA321]

Hi,

I'm doing a science fair project on Lynch Syndrome (mutation in one of the four MMR genes responsible for correcting DNA mutations [e.g. errors from replication, mitosis, etc. --> up to around 5% of colorectal cancers are associated w/ this condition and ppl with this condition {usually heterozygous inheritance} have up to 80% chance of inheriting colon cancer + less risks of getting other cancers like ovarian, endometrial, stomach cancers, etc.]) regarding the MLH1 gene. In my research, I have come across lots of mutations of various types (e.g. missense, nonsense, insertion, deletion, etc.) with regards to different mutations (there's about 3,000 different mutations for Lynch Syndrome).

I have found a database with all these mutations but I have a few ideas in mind (if you have more, please let me know).

1) Investigating the impacts of the various mutations (e.g. building a computational model depicting which ones are the worst [this may be a bit broad for 3,000 mutations so do you recommend just picking a certain category of mutations like missense for example?])

2) Building a computational model for the various mutations to predict the overall impact on the person (e.g. how long he/she will live, various risks of cancers associated with that particular mutation, chance of that particular mutation being passed down [perhaps different mutations have different chances of being passed down??? - i need to research this part but usually in general the chance of getting this mutation is 50% as in most cases {when applicable} one parent has this mutation]}

3) Predicting whether the person has lynch syndrome (based on family history of colorectal [colon] cancer, earliest diagnosis of colorectal cancer, etc.) - note: this is assuming the person hasn't had a genetic testing for lynch syndrome and could be used as a diagnosis tool to assess whether the person should undergo the genetic testing [it's sort of expensive] **i don't like this idea much though because it's already been done [e.g. harvard scientists have already done it and the tool's available online - however, if there's some interesting spinoff to this idea that you could recommend/some area of research adding another dimension to this, then definitely this is viable**

Thank you so much for taking the time to read this and give me feedback (which one of these ideas do you think is good, any additional recommendations/feedback for new ideas/further areas of research, etc.)

Thanks again!

Bioinformatics guy

[AmyCowen]

Hi. I see that you have posted your questions also in the Life Sciences forum. We ask that you keep all questions/responses in a single thread so that our Experts can best assist you.

The other thread appears here: viewtopic.php?f=28&t=17051

Amy
Science Buddies

[CBA321]

This thread can be used for response to experts then (is there a way I can delete the other post?).
In my other post, I put a link to this thread.

Hi, I deleted the other post for you. Thanks.
Moderator