Hereditary Non-Polyposis

[AnthonyKramer]

My docs ran some extra pathology reports and discovered that the cancer is most likely hereditary. Has anyone pursued genentic counseling and if yes, do you have any feedback on your experience? How useful/not useful did you find it? -AK

[ASTEPHENS33]

I was told that the number of polyps I had probably was because of genetic dispostion. Decided that my course of treatment wouldn't be any different if I did do the counseling - i.e., I'll be checked reguarly from now on now that I've had the cancer. They told me that they felt it could be handled by regular checks and the other option was to do a pre-emptive move, by removing more/all of the colon.

[Holly]

Anthony,

I was comprehensively screened for colon cancer genetic syndromes.

I have multiple dvd's available and would happily send one to you to have. It answers many preliminary questions regarding the process and testing.

Also, a couple websites that you may look for information are:

myriad genetics www.myriad.com

mayo clinic www.mayo.org

city of hope

If you have specific questions, please feel free to send me a line!

Hugs!

Holly

[Holly]

Tony,

Your DVD is in the mail. Should you have specific questions, please do not hestitate to let me know!

Hugs!

Holly

[momof2crazyboyz]

holly -- do you still have a dvd or vhs available for genetic testing? Thanks Cathy

[momof2crazyboyz]

Holly -- I already went to the site and ordered a DVD from myriad... thanks Cathy

[samsamUK]

My docs ran some extra pathology reports and discovered that the cancer is most likely hereditary. Has anyone pursued genentic counseling and if yes, do you have any feedback on your experience? How useful/not useful did you find it? -AK

Hi there,

I am currently undertaking some research on HNPCC at the leading Bowel Cancer unit in the UK (St Mark's) with particular interest in frequency of colonoscopies after having genetic testing. Please feel free to PM me with any questions...

Sam

[meighan]

hey there my husband was diagnosed stage III with 4 lymph nodes cancerous at age 35, only person in his family with colon cancer was his 72 year old grandfather not much of a family history other wise. Anyway his tumor did show some protein deficiancies that made them suspect HNPCC plus his age so we went to sloan and followed through on all the genetic counseling and tests. It is a very interesting side of treatment and I think for the future will add great value for screening but after two long meetings and many expensive tests i will tell you where we are. They still can not definitively tell us he carries the gene but highly suspect. His parents are going to be tested now and the good thing is now that we have identified the gene their tests are much less expensive then ours, ours were in the thousands theirs around 300 so that makes it much easier for family members to test. Back to where we are If one of his parents test positive then we can be pretty sure it is HNPCC and the family side it came from needs to be tested only thing is every cousin has been and no further cancer so then we can think he may have had a new mutation which we could only follow through on with our girls and they strongly recommend waiting until they are 18. This gene is not associated with any pediatric cancers and you have to think of their future rights like in regards to health and life insurance though there are laws being passsed to protect them as we speak.Again then each would be tested and have a 50/50 chance of inheriting this gene. If they carry it vigorous screening would be followed starting at age 18 but like they said a lot can change in 10 years and our kids are young. This is very difficult to hear when you are talking about your kids so think about how you deal with this carefully. As for my husband's treatment plan not much change if it is HNPCC he would need an upper GI series and further urine tests for kidneys in women this includes ovaries and endometrial lining ( what i took away from it was it is the lining with this gene more then the organ) Also at 5 years he would not get a break from frequent sceenings due to the gene he would be followed forever very closely. I thought it was worthwhile to pursue for us and insurance paid for it all so it was not a huge financial burden. We also feel like we are one of the families being studied and therefore on the forefront of what is new but truly we don't have any definitive answers just a lot of food for thought. We are going to continue to follow these recommendations and stay diligent but both of us are also the types of people who can put it aside and take off for the beach knowing we really don't want to spend our lives dwelling on the what ifs ....i think you need to explore how you will feel knowing some of this and in the end some of these tests like the upper GI were already being discussed anyway. Hope this helps you in some way and please ask any questions you would like and i will try and answer.

lastly i have a couple questions in regards to all this one is dealing with extended family members. Almost everyone in his family have had a colonoscopy and no cancer now we have a gene we think they should look into......... any one have experience dealing with extended family members. Some are interested and others kinda annoyed but don't we have a moral obligation to share???? appreciate comments... also we have talked long about testing our kids earlier for the gene then 18 but the pros and cons are debated in my mind and i have not yet come to any conclusion.....knowing ahead of time could bring great peace or worry with not a lot to do about it plus don't they have a right to be involved in these types of decisions as it effects more of their adult lives then their childhoods............

[samsamUK]

hey there my husband was diagnosed stage III with 4 lymph nodes cancerous at age 35, only person in his family with colon cancer was his 72 year old grandfather not much of a family history other wise. Anyway his tumor did show some protein deficiancies that made them suspect HNPCC plus his age so we went to sloan and followed through on all the genetic counseling and tests. It is a very interesting side of treatment and I think for the future will add great value for screening but after two long meetings and many expensive tests i will tell you where we are. They still can not definitively tell us he carries the gene but highly suspect. His parents are going to be tested now and the good thing is now that we have identified the gene their tests are much less expensive then ours, ours were in the thousands theirs around 300 so that makes it much easier for family members to test. Back to where we are If one of his parents test positive then we can be pretty sure it is HNPCC and the family side it came from needs to be tested only thing is every cousin has been and no further cancer so then we can think he may have had a new mutation which we could only follow through on with our girls and they strongly recommend waiting until they are 18. This gene is not associated with any pediatric cancers and you have to think of their future rights like in regards to health and life insurance though there are laws being passsed to protect them as we speak.Again then each would be tested and have a 50/50 chance of inheriting this gene. If they carry it vigorous screening would be followed starting at age 18 but like they said a lot can change in 10 years and our kids are young. This is very difficult to hear when you are talking about your kids so think about how you deal with this carefully. As for my husband's treatment plan not much change if it is HNPCC he would need an upper GI series and further urine tests for kidneys in women this includes ovaries and endometrial lining ( what i took away from it was it is the lining with this gene more then the organ) Also at 5 years he would not get a break from frequent sceenings due to the gene he would be followed forever very closely. I thought it was worthwhile to pursue for us and insurance paid for it all so it was not a huge financial burden. We also feel like we are one of the families being studied and therefore on the forefront of what is new but truly we don't have any definitive answers just a lot of food for thought. We are going to continue to follow these recommendations and stay diligent but both of us are also the types of people who can put it aside and take off for the beach knowing we really don't want to spend our lives dwelling on the what ifs ....i think you need to explore how you will feel knowing some of this and in the end some of these tests like the upper GI were already being discussed anyway. Hope this helps you in some way and please ask any questions you would like and i will try and answer.

lastly i have a couple questions in regards to all this one is dealing with extended family members. Almost everyone in his family have had a colonoscopy and no cancer now we have a gene we think they should look into......... any one have experience dealing with extended family members. Some are interested and others kinda annoyed but don't we have a moral obligation to share???? appreciate comments... also we have talked long about testing our kids earlier for the gene then 18 but the pros and cons are debated in my mind and i have not yet come to any conclusion.....knowing ahead of time could bring great peace or worry with not a lot to do about it plus don't they have a right to be involved in these types of decisions as it effects more of their adult lives then their childhoods............

Hi Meighan,

Screening is a very useful tool. Do not ignore HNPCC. If your doctors have told you that you are at risk of developing colon cancer (and of course your family), do get tested. Of the members who have previously had a tumour they should have their tumours tested by immunohistochemistry and microsatellite instability testing (IHC and MSI). Ask your doctors. If a mutation is discovered, then those family members that are at risk ought to have a genetic test done. Counselling here is important and your doctor will be able to advise you. Remember that if a family member is affected with the mutated gene. Ideally then, that patient should undergo 2 yearly colonoscopies. Also, their offspring are at a 50% risk of carrying the mutation. Better to have it checked out because although it may mean that you get confirmation of having the mutation, at least you know the doctors will do everything they can to prevent the cancer from getting past stage 1 or 2 (or even just a polyp). If though, you are found to have a negative mutation, at least your kids will not have inherited the mutation.

NOTE though, even if you DO carry the mutation, you will not necessarily develop cancer. And the same in reverse applies. If you do not have the mutation, you are still at population risk of developing cancer - but this does not require long term screening.

UK guidlelines currently state that for those who are tested, and are found to carry the mutation, they ought to go 2 yearly colonoscopies. The simple reason being, that cancers in HNPCC develop faster than sporadic (or non-genetic type) cancers.

Please PM me if you have any other concerns - I have just finished a year studying HNPCC in detail.

Best wishes,

Sam (from London)

[janb]

When my brother was diagnosed with stage 4 colon cancer at the age of 44, I procrastinated a year from the onset of his diagnosis before I scheduled mine. He was a year older than me. I had 6 polyps of which 3 were precancerous. My doctor proceeded to tell me I had to go every three years until I have a clean colonoscopy. So far every procedure has found those little suckers. I am due for another this summer. There were still 4 other siblings that needed to be screened. One sibling had polyps which were removed and the baby in the family (12 years younger than the oldest) ended up having to have her cecum and part of her upper colon removed due to serious polyps. Two other siblings were clean, however one of them just had another after five years and had polyps; he is still under 50. My grandmother in her 80's died of colon cancer but we didn't give it a thought about being a genetic matter. It was too late for my brother, his tumors were inoperable and he died 4 years after developing the disease. His death saved our lives.

[Colon2007]

What treatments is everyone undergoing for this diagnosis? Xeloda, FOLFOX, Avastin, Folfiri?



Please help.

Sam from London what is the current protocol for HPNCC what treatmnets are they giving patients for that?


Thanks so much!

[Guest]

I was 41 at diagnosis stage 4 my father died at 46 of colon cancer after a 5 year battle. They did one set of genetic test sent to mayo and banked my dna for my kids but they said it came back negative.

My liver surgeon said his guess is they just dont know what gene yet. When I got intial result I was still in new patient chem shock and not really able to understand the full meeting.

I have been ned for 21 months but just recently on a pelvic exam . I have enlarged ovary and thicking wall and cysts. know I am being sent to a gyenocolgist after a MRI.

does this sound like a new primary my cea is stable ?

could just be a mixed up body from all the treatment.

Im a liitle freaked , I have to wait till end of the month to get in. I am trying not to borrow trouble ahead of time. Its hard though any ideas?

Anita miss april 2007 colondar

[JAZZToo]

Anita

Women with HNPCC have about a 60% chance of developing endometrial (uterine) cancer during their lifetime, and a much smaller but still elevated risk of ovarian cancer than the general public. Many times a prophylactic total hysterectomy is recommended to prevent those cancers. In my case, I had the endometrial cancer first at age 49 and then 7 years later at 56 developed colon cancer. My tumor tested high microsatellite instability (5/5) but after extensive genetic testing at MSKCC, no specific mutation could be determined, so it was decided that I most probably had HNPCC (grandmother colon, father pancreatic) but with a mutation yet to be discovered and am following HNPCC guidelines for frequent colonoscopies, as are my children.

JAZZtoo

[Guest]

Jazz,
thanks for the info. my oldest is 16 and would need to be screened earlier if I had that gene.
anita

[momof2crazyboyz]

Hello everyone -- I just found out that my tumor was tested and I do have the gene linked to HNCPP. My MD recommended that I do have a total hysterectomy, but at this present moment -- I would like to keep all my parts. I am going to be very aggresive on the preventive testing. I am only 36 and I do not want to lose my uterus yet. I am scared for my kids, but they said that they will not get tested until they are in there teens, unless of close they have symptoms. (they are only 3 and 6 presently). Any thoughts?