Lynch Syndrome msh6 gene?

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alta29
alta29 Member Posts: 435 Member
edited March 2014 in Colorectal Cancer #1
Well...my "gene" Dr. called me today and said...Good news...we found out that the reason for your cancer is that you have Lynch syndrome which is a very rare mutation of hte msh6 gene...I'm still trying to find out where the good news are...the way I see it is that the gene is there..chemo won't kill it and cancer will be coming back...Why I found out is that people with this syndrome have 80% chance of developing cancer....Ok..now I know !!! My daugthers will be tested ,even thou they already had a colonoscopy and one of them already have pre cancerous polips at 21.....
Any info out there? It seams to complicated when I try to get info from the internet...
On the other hand I had an MRI because of bad headaches...it was negative !I will have another CT scan to see if my "spots have grown" on the 18th....I'm still very positive that God made a miracle already...extra prayers will help..
God bless...
Thanks !
Ileana

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  • AuthorUnknown
    AuthorUnknown Member Posts: 1,537 Member
    #2
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    Hi Ileana,

    My thoughts and prayers are with you.

    God Bless,

    Eleonora
  • AuthorUnknown
    AuthorUnknown Member Posts: 1,537 Member
    #3
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    Hi Ileana,

    I am not sure the good news in confirming Lynch Syndrome either. Now you know that you and your children need to be watched carefully for colon and other cancers. (Siblings as well) The doctor suspects that my husband has this gene. The tests are being performed and we will have the results soon, possibly tomorrow.

    Our son has also had polys that would have turned to cancer within the next two years. He is 29.
    I have searched the internet for Lynch syndrome. Women with this defective gene have a higher risk of several types of cancer. However, the risk for colon cancer is the highest at 80 percent for both men and women.

    If my husband has Lynch Syndrome, we are not sure what help the information will provide. However, we know that he and our son will be screened closely for the rest of their lives.

    We also will contact all extended family members on his mother's side of the family. Several family members have had colon or other forms of cancer.

    If you find out more about this syndrome, please post information here.

    Wishing you and your family well.
  • spongebob
    spongebob Member Posts: 2,565 Member
    #4
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    HEY!!! Another msh6-er! Same here...

    Ileana, I urge you to read my post about genetic testing. At least if your daughters do get tested, there's really only one genetic mutation they need to look at. The odds of you having msh-6 mutation and them having a different one are akin to OJ and the "real killer" (who was not OJ, right?) having the same DNA type.

    I have swallowed the reality that the dragon will probably be back - it's visited my mom 4 times. I have a dear friend here who also has Lynch Syndrome and the dragon has visited her mom 4 times as well (her mom also has it). The mutation is in what I call the "Inspector 7" part of our cells. "Inspector 7" ensures that the genetic coding (how the various amino acids are put together in the cell's DNA as it splits) is correct. Unfortunately, our "Inspector 7" is on a prepetual coffee break (must be a union thing), so sometimes the genetic sequencing gets fouled-up. Normally "Inspector 7" would catch it and have the errant cell put to death immediately (I think that's rather draconian, but maybe our genes harken back to Soviet Russia days). Unfortunately, "Inspector 7" doesn't catch it and the "bad" cell continues happily having a-sexual relations with itself making more and more of the fouled-up cells - regular chips off the old block. Eventually those cells get togeter for a family reunion and they call that cancer.

    What do we do? We keep a robust surveillance, catch wind of the family reunion, and do a Tony Montana-style drive-bye shooting. Say hello to my leetle frehn - CHEMO!

    And then we go on and we LIVE our lives!

    Want info? Check out the National Cancer Institute's website. There are a couple of genetic colon cancer websites, but they haven't been updated in years. NCI is probably your best stop. I'd be happy to chat with you about it anytime.

    Welcome to the few, the proud...

    - SpongeBob
  • spongebob
    spongebob Member Posts: 2,565 Member
    #5
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    AuthorUnknown said:

    Hi Ileana,

    I am not sure the good news in confirming Lynch Syndrome either. Now you know that you and your children need to be watched carefully for colon and other cancers. (Siblings as well) The doctor suspects that my husband has this gene. The tests are being performed and we will have the results soon, possibly tomorrow.

    Our son has also had polys that would have turned to cancer within the next two years. He is 29.
    I have searched the internet for Lynch syndrome. Women with this defective gene have a higher risk of several types of cancer. However, the risk for colon cancer is the highest at 80 percent for both men and women.

    If my husband has Lynch Syndrome, we are not sure what help the information will provide. However, we know that he and our son will be screened closely for the rest of their lives.

    We also will contact all extended family members on his mother's side of the family. Several family members have had colon or other forms of cancer.

    If you find out more about this syndrome, please post information here.

    Wishing you and your family well.

    bscurlock -

    The Lynch Syndrome (HNPCC) cancer tends to pop up in sites within the digestive tract; stomach, kidneys, bladder. It also hits the liver and lungs, as I understand it this is more typically through contact mets. There are also documented cases of it affecting the pancreas (that one gives me the shivers). In women, it also commonly affects the breasts and the reproductive organs. The good news is that there are no documented cases of hair or fingernail cancer associated with Lynch Syndrome (that was an attempt at dark humor).

    Your comment "If my husband has Lynch Syndrome, we are not sure what help the information will provide. However, we know that he and our son will be screened closely for the rest of their lives." is right on the money in my book. Knowledge is power - MOST of the time, maybe not this time. Here's how I see it; if you know there's a really good probability that you have it (and in your son's case the odds are 50-50 if your husband has the syndrome because of how the gene works - it's what is called "autosomal dominant") then you just ensure you get tested regularly for the many different types of cancer it can cause - you not only get a colonoscopy every year, you also get yourself an endoscopy (they go down your throat and look at the alimentary canal from the "other" end - be sure they do the colon part AFTER they do the endo!), you also have a urine cytology test done to ensure there is no trace blood in your urine which could be a sign of bladder cancer, you keep a watch on your CEA and other markers. The list goes on and on. As with alta, I'd be happy to talk to you more indepth any time. Check out the NCI website.

    Cheers

    - Bob
  • AuthorUnknown
    AuthorUnknown Member Posts: 1,537 Member
    #6
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    spongebob said:

    bscurlock -

    The Lynch Syndrome (HNPCC) cancer tends to pop up in sites within the digestive tract; stomach, kidneys, bladder. It also hits the liver and lungs, as I understand it this is more typically through contact mets. There are also documented cases of it affecting the pancreas (that one gives me the shivers). In women, it also commonly affects the breasts and the reproductive organs. The good news is that there are no documented cases of hair or fingernail cancer associated with Lynch Syndrome (that was an attempt at dark humor).

    Your comment "If my husband has Lynch Syndrome, we are not sure what help the information will provide. However, we know that he and our son will be screened closely for the rest of their lives." is right on the money in my book. Knowledge is power - MOST of the time, maybe not this time. Here's how I see it; if you know there's a really good probability that you have it (and in your son's case the odds are 50-50 if your husband has the syndrome because of how the gene works - it's what is called "autosomal dominant") then you just ensure you get tested regularly for the many different types of cancer it can cause - you not only get a colonoscopy every year, you also get yourself an endoscopy (they go down your throat and look at the alimentary canal from the "other" end - be sure they do the colon part AFTER they do the endo!), you also have a urine cytology test done to ensure there is no trace blood in your urine which could be a sign of bladder cancer, you keep a watch on your CEA and other markers. The list goes on and on. As with alta, I'd be happy to talk to you more indepth any time. Check out the NCI website.

    Cheers

    - Bob

    SpongeBob

    Thanks for the information and the reminder that there are risks for other cancers as well. Most of the cancers listed on web sites are "women" cancers but you reminded me that are many that men need to be concerned about as well.

    Have you found any research that links Lynch Syndrome to glioblastoma (brain tumor)? My husband's mother and sister died of this type tumor which is why they decided to do the genetic testing.

    I want you to know that I have learned a lot from your post since I started reading this site last year. Thanks for your input and humor (even the dark humor)

    Betty
  • Patrusha
    Patrusha Member Posts: 487
    #7
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    spongebob said:

    HEY!!! Another msh6-er! Same here...

    Ileana, I urge you to read my post about genetic testing. At least if your daughters do get tested, there's really only one genetic mutation they need to look at. The odds of you having msh-6 mutation and them having a different one are akin to OJ and the "real killer" (who was not OJ, right?) having the same DNA type.

    I have swallowed the reality that the dragon will probably be back - it's visited my mom 4 times. I have a dear friend here who also has Lynch Syndrome and the dragon has visited her mom 4 times as well (her mom also has it). The mutation is in what I call the "Inspector 7" part of our cells. "Inspector 7" ensures that the genetic coding (how the various amino acids are put together in the cell's DNA as it splits) is correct. Unfortunately, our "Inspector 7" is on a prepetual coffee break (must be a union thing), so sometimes the genetic sequencing gets fouled-up. Normally "Inspector 7" would catch it and have the errant cell put to death immediately (I think that's rather draconian, but maybe our genes harken back to Soviet Russia days). Unfortunately, "Inspector 7" doesn't catch it and the "bad" cell continues happily having a-sexual relations with itself making more and more of the fouled-up cells - regular chips off the old block. Eventually those cells get togeter for a family reunion and they call that cancer.

    What do we do? We keep a robust surveillance, catch wind of the family reunion, and do a Tony Montana-style drive-bye shooting. Say hello to my leetle frehn - CHEMO!

    And then we go on and we LIVE our lives!

    Want info? Check out the National Cancer Institute's website. There are a couple of genetic colon cancer websites, but they haven't been updated in years. NCI is probably your best stop. I'd be happy to chat with you about it anytime.

    Welcome to the few, the proud...

    - SpongeBob

    Hey, Bob, I don't want to give any incorrect info, so please jump in if what I am about to say sounds "iffy." I am doing the genetic testing, too, and it seems that I heard my two oncologists say that the reason it is a "good" thing to have a genetic predispositiion is that while it is more likely you'll GET cancer, there is less likliehood of recurrence. Sounds like that didn't hold true for your mom...

    The people in the study I am in who were deemed "low risk" and given no chemo include people with certain genetic markers.

    Any thoughts?
  • houseofclay
    houseofclay Member Posts: 63
    #8
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    I am going to assume the "good news" is knowing why the cancer developed at all. Many patients torture themselves wondering what the cause of their cancer was.

    I did want to ask about testing of msh6, though. Last Fall, my husband was tested for HNPCC and the lab wouldn't/couldn't test msh6--only msh1 & 2. Do you know which lab performed the test? Our genetic counselor suggested we stay in tune with changes/improvements in testing because the family history strongly suggests HNPCC. Thanks for your help!
  • alta29
    alta29 Member Posts: 435 Member
    #9
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    houseofclay said:

    I am going to assume the "good news" is knowing why the cancer developed at all. Many patients torture themselves wondering what the cause of their cancer was.

    I did want to ask about testing of msh6, though. Last Fall, my husband was tested for HNPCC and the lab wouldn't/couldn't test msh6--only msh1 & 2. Do you know which lab performed the test? Our genetic counselor suggested we stay in tune with changes/improvements in testing because the family history strongly suggests HNPCC. Thanks for your help!

    I will get a letter from them this week...I will let you know....Thank u all for the reply...and God Bless
  • spongebob
    spongebob Member Posts: 2,565 Member
    #10
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    Patrusha said:

    Hey, Bob, I don't want to give any incorrect info, so please jump in if what I am about to say sounds "iffy." I am doing the genetic testing, too, and it seems that I heard my two oncologists say that the reason it is a "good" thing to have a genetic predispositiion is that while it is more likely you'll GET cancer, there is less likliehood of recurrence. Sounds like that didn't hold true for your mom...

    The people in the study I am in who were deemed "low risk" and given no chemo include people with certain genetic markers.

    Any thoughts?

    Pat -

    Correct - didn't hold true for my mom or my friend's mom, either. According to the folks at NCI, the recurrence rate is very HIGH for folks with Lynch Syndrome. I think that position is underscored by the fact that most folks with LS get scoped annually or at least every 2 years versus the "normal" 5+ schedule. Perhaps the hypervigilance is why we're less likely to "get it again" - we DO have a recurrence, but because of our robust surveillance, we catch it early? I don't know...

    I'm not a doc and I am certainly not trying to contradict yours, just passing along what I have been told and what I have personally experienced.

    Cheers

    - SB

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