Re: Re:Narice future plans/Priscilla I need your help

[Guest guest]

Narice - My husband Tim had genetic testing at NIH as part of a Colon

Cancer study on HNPCC - hereditary nonpolyposis colorectal cancer.

(I'm taking the following mostly from memory - so some of the stats

might not be exactly right.) There are apparently 10% of colon cancers

that fall into this category - usually the red flag is raised when

someone under the age of 50 is diagnosed with CC. Of those 10%, about

90% of the HNPCC related colon cancers are the result of mutations in

two genes. There is a 3rd gene that is tested only if the first two

don't show the required mutations.

My husband tested normal for the most common HNPCC (MSH2 & MSH1) genes

but he had a mutation on the 3rd gene (MSH6) but his was a mutation on

that gene that has never been seen before. (I asked the researchers if

they would name the mutation after him....the Durant mutation....as it

doesn't look as if anything else will be named after the family!). Now

they are in the process of testing relatives on my husband's mother's

side of the family - the side that has several colon cancers and uterine

cancers (closely related to colon cancer) to see if they have the same

mutation. If they do, then our kids will be able to be tested for free

if they wish to be to see if they carry the same mutation. They will at

some point determine if the mutation in question is causative....they

are far from saying that it is at this point. They suspect it may be

but much more will have to be known to say definitively

When we first explored genetic testing, we were sent to UPMC in

Pittsburgh. We found that our health insurance would not pay for the

genetic tests even though the " markers " for HNPCC were mostly there, so

we were referred to the NIH program which is free.

If I were you, I would contact the Hillman Cancer Center and ask about

their Cancer Genetics Program. You can get information from them and if

appropriate they can refer you to the NIH program. The numbers I have

for direct calling to the genetic research department at Hillman are

and - I don't know if they are still valid as

it has been quite a while since we started this whole thing.

Here is the website http://www.upmccancercenters.com/network/upmchillman.cfm

If I can be of further assistance, please let me know. I think of and

pray for you and the boys often....especially since my youngest son was

just finishing high school and starting college when his father was

diagnosed and undergoing chemo & radiation. I am so sorry that Phil is

gone - I know a light has gone out from your life. I hope you find some

solace in working against this disease and perhaps sparing others the

same fate. God bless you and your sons.

Peggy

flipper759@... wrote:

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> The testing is the good thing The bad thing is Dan is totally

> convinced that

> even if he dodges colon cancer by virtue of this test that cancer will

> eventually kill him as it is in the May genes.

> So am wondering the genetic test how and where do I get it for Dan & Tim?

> Narice

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