Genetic testing...does anyone have the CHEK2 gene mutation

Posted by sandyjr @sandyjr, Tue, Sep 17 4:38pm

I have had bilateral breast cancer. According to my genetic test, I do not have the BRAC1 or BRAC2 mutation…I have the very rare CHEK 2 mutation. Has anyone had this mutation? If so, what was your plan of action?

Hi Sandi, CHEK2 (Checkpoint Kinase 2) is a rarer mutation. Based on the genetic information, what changes or medical decisions, if any, have you made?

For anyone interested, here’s more info on CHEK2 https://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditary-cancer/other-genes/basics/chek2.php

Sandi, have you heard of or registered with the Prospective Registry Of MultiPlex Testing (PROMPT) study?
The PROMPT Study is a research registry enrolling people who have had panel testing in order to learn more about cancer risks associated with gene mutations like CHEK2. See more info here:
https://www.facingourrisk.org/research-clinical-trials/research-studies-search/50/prompt/

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Hi Sandi,
I also have this mutation. It was discovered about 5 years ago. I did nothing then to change anything as as was well. In hindsight I would have changed my diet back then. No dairy or processed foods.

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@dianamiracle

Hi Sandi,
I also have this mutation. It was discovered about 5 years ago. I did nothing then to change anything as as was well. In hindsight I would have changed my diet back then. No dairy or processed foods.

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I am curious. You say you did nothing. Has anything happened since then? Why would you have changed your diet?

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@sandyjr

I am curious. You say you did nothing. Has anything happened since then? Why would you have changed your diet?

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I had stage 1b pancreatic and metastatic breast cancers. I have other mutations as well. Changing my diet has helped me get thru this along with chemo, surgery, radiation, chemo. I also do acupuncture and take certain supplements to strengthen my immune system.

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I just received genetic testing that I have the CHEK2 gene. I had breast cancer 10 years ago. I’m not sure what to do at this point about the diagnosis. I have 2 daughters in their 20’s and a son in his 20’s.

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@leeannaw

I just received genetic testing that I have the CHEK2 gene. I had breast cancer 10 years ago. I’m not sure what to do at this point about the diagnosis. I have 2 daughters in their 20’s and a son in his 20’s.

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I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast cancer nearly put me over the edge. Thank heavens all I had for both cancers were lumpectomies and radiation… No chemo. If I get it again I have a good chance of getting chemo and losing more lymph nodes which would set me up further for lymphedema. Also if I got it again I definitely would have a mastectomy. This is weighing very heavily on me. I have two daughters and one of them has been tested for it and does have the gene mutation. Unfortunately she is also very sick with Crohn’s disease and PSC which is a bad liver condition that is fatal. Since the CHEK2 mutation also can affect colon cancer, she figures she’s in trouble to begin with with the Crohn’s disease and now this. She is 44 and says she will have a prophylactic mastectomy when she gets her health back in order after this last Crohn’s surgery. I do not know if my other daughter has pursued the possibility of getting the genetic testing. I gave her all the information she needed and explained it to her and I am hopeful that she will move on it, but she is an adult and needs to make her own decision without mommy hammering at her. This has been a real strange experience. If I had known this after my first breast cancer I would’ve definitely had The double mastectomy after my second breast cancer. There was 11 years between the two cancers. Even though I am pushing 70 I just don’t feel like I want to be bothered with cancer again. So that is where I am right now. I feel very confused and definitely do not want to have the surgery but know that it is probably the best thing for me. If I have this surgery there is a 90% chance that I will not get breast cancer again. Just to wake up in the morning and not think about having cancer is huge to me. I would appreciate hearing your thoughts of how you are thinking about dealing with it. Thanks for your comments.

Liked by elizm

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@sandyjr

I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast cancer nearly put me over the edge. Thank heavens all I had for both cancers were lumpectomies and radiation… No chemo. If I get it again I have a good chance of getting chemo and losing more lymph nodes which would set me up further for lymphedema. Also if I got it again I definitely would have a mastectomy. This is weighing very heavily on me. I have two daughters and one of them has been tested for it and does have the gene mutation. Unfortunately she is also very sick with Crohn’s disease and PSC which is a bad liver condition that is fatal. Since the CHEK2 mutation also can affect colon cancer, she figures she’s in trouble to begin with with the Crohn’s disease and now this. She is 44 and says she will have a prophylactic mastectomy when she gets her health back in order after this last Crohn’s surgery. I do not know if my other daughter has pursued the possibility of getting the genetic testing. I gave her all the information she needed and explained it to her and I am hopeful that she will move on it, but she is an adult and needs to make her own decision without mommy hammering at her. This has been a real strange experience. If I had known this after my first breast cancer I would’ve definitely had The double mastectomy after my second breast cancer. There was 11 years between the two cancers. Even though I am pushing 70 I just don’t feel like I want to be bothered with cancer again. So that is where I am right now. I feel very confused and definitely do not want to have the surgery but know that it is probably the best thing for me. If I have this surgery there is a 90% chance that I will not get breast cancer again. Just to wake up in the morning and not think about having cancer is huge to me. I would appreciate hearing your thoughts of how you are thinking about dealing with it. Thanks for your comments.

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I also had a lumpectomy, and will start radiation in December. No chemo. Just curious—did you receive endocrine therapy? (Wishing you well in your decision-making.

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@colleenyoung

Hi Sandi, CHEK2 (Checkpoint Kinase 2) is a rarer mutation. Based on the genetic information, what changes or medical decisions, if any, have you made?

For anyone interested, here’s more info on CHEK2 https://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditary-cancer/other-genes/basics/chek2.php

Sandi, have you heard of or registered with the Prospective Registry Of MultiPlex Testing (PROMPT) study?
The PROMPT Study is a research registry enrolling people who have had panel testing in order to learn more about cancer risks associated with gene mutations like CHEK2. See more info here:
https://www.facingourrisk.org/research-clinical-trials/research-studies-search/50/prompt/

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When I spoke with the genetic counselor I believe she signed me up for the prompt study as well as the Vanderbilt study. Should I be getting any information from them? I really don’t know what to expect.

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@sandyjr You have my heartfelt concerns for your and your daughters' situation. Regrettably, each of us seems to have a different debacle at hand — different treatments, different kinds of breast cancer, different genetic makeups, different hormone receptor statuses, etc. — all of which complicate the picture and decision-making. I would urge you to write down every question that you have, discuss them with your oncologist, and then speak to two other oncologists (preferably from different networks, if possible) and seek their opinions. Have a friend or daughter accompany you and write down their responses… then weigh what you hear before trying to make a decision alone. I send you my best.

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@sandyjr

When I spoke with the genetic counselor I believe she signed me up for the prompt study as well as the Vanderbilt study. Should I be getting any information from them? I really don’t know what to expect.

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After having polyps taken out every 6 months I did opt for a complete hysterectomy. No more worries…..

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@sandyjr

I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast cancer nearly put me over the edge. Thank heavens all I had for both cancers were lumpectomies and radiation… No chemo. If I get it again I have a good chance of getting chemo and losing more lymph nodes which would set me up further for lymphedema. Also if I got it again I definitely would have a mastectomy. This is weighing very heavily on me. I have two daughters and one of them has been tested for it and does have the gene mutation. Unfortunately she is also very sick with Crohn’s disease and PSC which is a bad liver condition that is fatal. Since the CHEK2 mutation also can affect colon cancer, she figures she’s in trouble to begin with with the Crohn’s disease and now this. She is 44 and says she will have a prophylactic mastectomy when she gets her health back in order after this last Crohn’s surgery. I do not know if my other daughter has pursued the possibility of getting the genetic testing. I gave her all the information she needed and explained it to her and I am hopeful that she will move on it, but she is an adult and needs to make her own decision without mommy hammering at her. This has been a real strange experience. If I had known this after my first breast cancer I would’ve definitely had The double mastectomy after my second breast cancer. There was 11 years between the two cancers. Even though I am pushing 70 I just don’t feel like I want to be bothered with cancer again. So that is where I am right now. I feel very confused and definitely do not want to have the surgery but know that it is probably the best thing for me. If I have this surgery there is a 90% chance that I will not get breast cancer again. Just to wake up in the morning and not think about having cancer is huge to me. I would appreciate hearing your thoughts of how you are thinking about dealing with it. Thanks for your comments.

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So sorry to hear this. I had a mastectomy on my left breast and it was Stage 2 but I was in my early 40’s so they did chemo and radiation. I did genetic testing back then but they only tested for BRAC 1 and 2 which I didn’t have. My oncologist just requested that I have genetic testing again and this is when they found the CHEK 2 mutation. The genetic counselor suggests yearly MRI’s now and a colonoscopy every 5 years. My mom who is 82 is going to be tested now for free. She has had no cancer of any kind. I am scared about the cancer return especially even after this length of time. I’m really scared at this point to have another mastectomy. I’m 57 currently. So they found a lump after 11 years in the other breast and you had a lumpectomy and radiation? Do they suggest having a mastectomy? What are the odds it would come back again?

Liked by trixie1313

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@leeannaw

So sorry to hear this. I had a mastectomy on my left breast and it was Stage 2 but I was in my early 40’s so they did chemo and radiation. I did genetic testing back then but they only tested for BRAC 1 and 2 which I didn’t have. My oncologist just requested that I have genetic testing again and this is when they found the CHEK 2 mutation. The genetic counselor suggests yearly MRI’s now and a colonoscopy every 5 years. My mom who is 82 is going to be tested now for free. She has had no cancer of any kind. I am scared about the cancer return especially even after this length of time. I’m really scared at this point to have another mastectomy. I’m 57 currently. So they found a lump after 11 years in the other breast and you had a lumpectomy and radiation? Do they suggest having a mastectomy? What are the odds it would come back again?

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No one has suggested a mastectomy. After having BC twice, I know I do not want to go through that again. Prophylactic mastectomy was my idea. When I had the second cancer last year, I suggested a mastectomy and the surgeon was against this. We did not know about the mutation at that time. I talked to my oncologist about it last month and he is neutral on the idea. I could deal with the extra testing, but that won’t prevent me from getting it again. If that were to happen, I would probably be forced into a mastectomy and I would be older and I might have to do chemo. So I figure I could do away with all the nonsense and just get it done now and hope for the best and avoid the daily fear. I was shocked to get it after 11 years. BTW, I have not had luck with radiologists and this last cancer was diagnosed as probably benign and six months later benign. I asked for a biopsy at that point and I had invasive ductal carcinoma. It seems that my friends that have had DCIS seem to be getting another cancer in the other breast. There are really no predictions with the CHEK2, so I would rather be safe than sorry.

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