As you can tell i'm no expert. Genetics is interesting isn't it? Nature, nurture and everything in between is involved... What is the mutation, what causes the mutation, how can we repair the mutatation...?
Mismatch repair genes are an interesting topic... With some of the websites the language is hard to understand and not so accessible for simpletons like myself...but some of them have some very good reviews that are vaguely comprehensible with a bit of time and effort.
With Torre Muir syndrome it is believed there is significant under reporting because not a lot of physicians know anything about it so they never identify it when problems occur...
Personally i also think that my own familys experience of hepato billiary problems suggests that the 2-7% represents under reporting... if we can change that then it could get more people interested in examining causes and possible cures for cc.
Most importantlly, if nothing else, if more people identify a genetic issue it can help them to help and their relatives get better screening and aid early detection.
You know (more than most i guess) that with current medical knowledge and technology that by the time the itching, yellow eyes, loss of appetite and weight loss comes, things have very often progressed too far to do anything too meaningful to help the majority (present company excepted!!)...and what we are left with is chemo, radiotherapy and some other relatively new techniques...none of which involve a cure.
My hope is that, at least for those with a genetic "cause" they give themselves time, through screening, to get in there early an do something about it!!
Thanks for your interest in the topic. How are you doing?