Genetics - The elephant in the room???

Hi Frogspawn,
Interesting that you should bring this up.  the gastrointerologist I saw at Emory Crawford Long is interested in the genectics side of things.  He was interested that my father had been exposed to asbestos in the 1950's while he was in the Navy.  My father died in 2000 from mesothelioma.   Dr. Martinez said it would not be improbable that there was a connection if my Dad's DNA had been altered by his exposure to asbestos (I was born in 1965).
However, as a child I also played in creeks and streams that were more than likely contaminated with PCB's.   I have not pursued this though.
Is there any history of asbestos exposure in either of your parents?

From cancer.net

Hepatobilliary cancers comes third on the list for commonality...

What are the estimated cancer risks associated with Muir-Torre syndrome?

General cancer risks for people with Muir-Torre syndrome

Colorectal cancer  80%
Stomach cancer  11% to 19%
Hepatobiliary tract  2% to 7%
Urinary tract  4% to 5%
Small bowel (intestines)  1% to 4%
Brain or central nervous system  1% to 3%
Skin cancer increased risk

Cancer risks for women with Muir-Torre syndrome

Endometrial cancer  20% to 60%
Ovarian cancer  9% to 12%

Thanks Jeff.

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?

Frogspawn

My Dad used to take those meal in a drink things... i tried one. They taste like they have got lots of iron in them...yuck!

Would be good if we could get a doctor to do a post on the genetics side of things. I am trying to get somone in the UK to do something...i'll let you know how i get on...

(Your mention of the nuclear testing is something i've not heard of before...but i noticed someone else mentioned it on this site as well) Thanks for the info as will definitely investigate! Thanks.

Darla i saw your post in the introductions section. So desperately sad. I know you will feel like you have been robbed. I want you to  know that i am thinking of you right now and praying for help for you to get through the bad feelings you will be going through at the moment.

There are a number of people on this site who look like they have some king of familial cancer issue. There are some good explanantions on the publicly available health sites... medline... cancer.net. etc about the different possible genetic conditions.

In the UK we have regional genetics centres with genetics counsellors though you have to be referred to them by a GP or other consultant. There are some criteria called the amsterdam criteria that they use to decide whether it is worth doing a genetic test. I think they have something similar in the US...?

Frogspawn

As far as genetics go, I'm the only one in my extended family to have any GI cancer.  There is breast cancer in the maternal side of my family, so I always figured I'd be fighting that eventually.

Hi everyone,
The discussion of CC being hereditary is an interesting one. But also a subject that didnot have enough research yet. A lot of oncologists in Holland think the chance of getting cancer might be hereditary. And I tend to agree, looking at my husbands background. His mother kicked off two different types of cancer, before she died on asbestos cancer. Both her brothers died on prostate cancer and two of their sons also had cancer.
On the other hand, what can one do with this knowledge? Not much, I believe. Talking to our oldest son about this and trying to get him to eat healthier, he answered with a smile "I rather live 60 years with a lot of fun, than 80 years with a lot of restrictions". As you might guess, he is a junkfood eater.
Anyway, on our anti-cancer diet my Peter is doing quite well. We will have the results of today's bloodtest on Wednesday. The last bloodtest was not an improvement, but also not worse. The coughing (metastases to the lungs) remains.
Wishing you all the best, Iris.

frogspawn,

I think you are onto something here.  My Dad's uncle died from 'liver' cancer.   That was some time ago, and the circumstances are vague, I'm guessing it was cc.  (My Dad died from cc 23/9/2007)

I went to my gp about this and I was referred to a genetic consultant who was dismissive.  I do not feel reassured.  So little is known about this disease how can they be so sure?

I did come across a clinical trial in Switzerland asking for blood relatives of cc patients to trial some type of screening - If I recall correctly it involved taking samples of the cells lining the bile duct for testing - I think it was called brush cytology - or something like that.. I will try to dig it out.

surely if we are wanting to make some progress towards a cure/early diagnosis then this needs to be taken seriously.  Thankyou for your informative postings on this subject.

Marions piece of info on genomics looks interesting so i think i will have a look into that as well!

When my mom was seen at MD Anderson for cc, they sent her for genetic counceling. My maternal grandmother had pre-cancerous polyps in her colon, and Her mother died of colon cancer. They told us that the family may have Lynch Syndrome. This gene mutation causes colon, liver, cc, and ovarian cancers.  They are testing her biopsy slides for this. We should know more when she goes back to Houston in January.

Robyn... I think Torre Muir syndrome is probably an old term... i think that my families problem is probably classified now as Lynch Type II syndrome... I think that a number of these syndromes actually involve mutations in a number of the same "mismatch repair" genes that mean that mutated cells aren't repaired by the body as they should be. My surviving brother is a carrier of the gene as is my sister. Apparently the genetic condition is autosomal dominant which means that each child of a carrier has a fifty fifty chance of inheriting... I pray for a negative test for your mum but the strength to bear a positive one.

As suzanne and walk have mentioned maybe there could be an environmental component that can trigger the gene fault...'

Walk, if i was your sibling, with a family history like that, i'd be down to the doctors for a colonoscopy (i'm not a doctor by the way!)