BRCA2 and MSH6: Family finds it hard to discuss cancer & feelings

Posted by ali1974 @ali1974, Oct 8, 2020

Hello:
My name is Alice, I am 47 yrs old. I am curious if anyone out there has both tested positive for BRCA2 and MSH6 genes? I had breast cancer in my early 30’s that resulted in a double mastectomy after treatment. I also had a hysterectomy for atypical cancer cells before the cancer diagnosis. I am very curious if this is common? I am currently being tested for PBC and have bleeding of non gynecological issues. I went to a urologist yesterday and I have to have additional testing. I am so overwhelmed with all these tests and can’t keep up with everything. I honestly, at this point want to say no more drs.

Does anyone have these feelings too? My family doesn’t want to discuss any of my feelings or possible diagnosis and it’s something I have to process. Any suggestions?

Thank you for listening

Thank you for your reply, I too was very surprised by the overlap. I will share my results once I have them. I was told it would be very unlikely that they would find anything else because it’s quite rare to have more than one. I believe they said less than 5%. I guess I should play the lottery lol!
I don’t mean to make light of it but at this point what can you do.

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@elizm

@ali1974
Hi, Alice… When I had my genetic testing done last summer, they tested for the usual breast cancer genes, but also for the genes associated with ovarian and colon cancer in light of family members with those cancers in the past. I was amazed as to how many genes overlap the categories. I don't recall a specific discussion group here on genetic testing for breast cancer, but one of our moderators certainly will know.

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@ali1974, there are several discussions about genetic testing for breast cancer here on Connect. For example:

– Genetic testing…does anyone have the CHEK2 gene mutation https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/
– The math of invasive breast cancer risk for LCIS https://connect.mayoclinic.org/discussion/the-math-of-invasive-breast-cancer-risk-for-lcis/
– High Risk Mutation (ie. BRCA, ATM, RAD51D) https://connect.mayoclinic.org/discussion/high-risk-mutation-ie-brca-atm-rad51d/
– High risk, NOT from BRCA but from typia, such as ALH, ADH, LCIS https://connect.mayoclinic.org/discussion/high-risk-not-from-brca-but-from-typia-such-as-alh-adh-lcis/
– ATM Gene Mutation and Care https://connect.mayoclinic.org/discussion/atm-gene-mutation-and-care

In these discussions you'll meet others like @elsie37 @sandyjr @ladylawdawg @corinneberg @marykaym63 @patsydanley

You may also be interested in this video with Mayo Clinic genetic experts
– Video Q&A about Cancer and Genetics https://connect.mayoclinic.org/webinar/video-qa-about-cancer-and-genetics/

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@colleenyoung

@ali1974, there are several discussions about genetic testing for breast cancer here on Connect. For example:

– Genetic testing…does anyone have the CHEK2 gene mutation https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/
– The math of invasive breast cancer risk for LCIS https://connect.mayoclinic.org/discussion/the-math-of-invasive-breast-cancer-risk-for-lcis/
– High Risk Mutation (ie. BRCA, ATM, RAD51D) https://connect.mayoclinic.org/discussion/high-risk-mutation-ie-brca-atm-rad51d/
– High risk, NOT from BRCA but from typia, such as ALH, ADH, LCIS https://connect.mayoclinic.org/discussion/high-risk-not-from-brca-but-from-typia-such-as-alh-adh-lcis/
– ATM Gene Mutation and Care https://connect.mayoclinic.org/discussion/atm-gene-mutation-and-care

In these discussions you'll meet others like @elsie37 @sandyjr @ladylawdawg @corinneberg @marykaym63 @patsydanley

You may also be interested in this video with Mayo Clinic genetic experts
– Video Q&A about Cancer and Genetics https://connect.mayoclinic.org/webinar/video-qa-about-cancer-and-genetics/

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Thank you, since joining the site I have been very impressed with the responsiveness. I appreciate everyone for being so open.

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Alice,. Thank you or sharing. You have had a rough road and it sounds like there are more bumps on the road to come. Families can sometimes not be the best source of support. There is this group, there are also several FB groups that can supply info, but it's importantly, genuine emotional support with women who have been on this journey already. Good luck. Prayers and positive thoughts coming your way.

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Hello everyone I have read allot of post but not all. The first thing I would like to say is that I believe CHEK2 is not rare at all. I am one of 4 sisters who all tested positive for CHEK2. Several of our children were tested and 8 out of 10 are positive.
I believe that it looked rare because they only tested for the BRCA GENES. In 2015 My 68 year old sister
got breast cancer for second time, first time she was 40. She had Mastectomy, but at that time in 1987 they did not offer double mastectomies. Since this was her second cancer they did full testing and found she had CHEK2. She was told to have her sisters tested for the gene. Our family history show several Aunts having breast cancer and many family
members even younger one having Thyroid cancer.
In The same month my sister was diagnosed with her second breast cancer January 2015, my primary Dr sent me to Mayo Clinic Jacksonville to get relief for neck pain. In 1982 I was T-boned in my car and ended up with 4 surgeries with final they went through back of neck drilling through cervical C3-C7
and braiding wire to make a solid fusion. Fast forward to November 2013 I was rear ended at a stop light and injured neck and shoulder. So first day at Mayo my neck MRI showed possible Thyroid
cancer. Fast forward My neck situation was put on hold, my biopsy was positive and I was scheduled for Papillary Thyroidectomy 03/2015. After when I returned to Mayo I hand letter from oncology of my sister saying I should be tested for CHEK2. After coming back positive I had consults for breast and colon. Since I Had been doing colonoscopies for over 20 years with polyps every time, and my sons started in early 20’s getting colonoscopies also having polyps. They are both positive CHEK2.
My last colonoscopy showed that I had three flat polyps instead of hanging and was alarming, but they ended up negative so I have a colonoscopy every two years now. In 2016 in January the pain Dr did Radio Frequency Ablations on both sides of my neck to give me relief before my next surgery which was February 2016. I elected for a Bilateral Prophylactic Mastectomies and not wanting to
have implants I a consult with the head Plastic Micro surgeon and he told me he could take fat from my belly and make breast from my on fat called Deep Flap Reconstruction. I had the breast surgeon remove breast and two micro surgeons working each side for 9-1/2 hours. It was not easy at all
I was 64. But I am so happy with results. My other two sisters decided to wait and see and that’s their choice. My older sister with double Breast Cancer
had Papillary Thyroid cancer in September 2016, so that was her third cancer. Hopefully anyone that get Breast cancer they will check for this gene as I believe that it is not rare because they never check
for the CHEC2 gene. Most Doctors have never heard of the gene including my Dr that was doing my colonoscopy told me that it wasn’t true that this gene cause colon cancer. He had just been to a National conference and they never heard of it. The next day before doing endoscopy/colonoscopy he
apologized, he said he did research and what I told him was true. This Dr was a local doctor not a Mayo doctor. We live 4 hours away from Mayo Clinic Jacksonville, and have made that trip 24 times and spent over 100 days in hotels or hospital. Mayo Clinic Is a real Blessing and I would recommend them highly

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@silentfaith

Hello everyone I have read allot of post but not all. The first thing I would like to say is that I believe CHEK2 is not rare at all. I am one of 4 sisters who all tested positive for CHEK2. Several of our children were tested and 8 out of 10 are positive.
I believe that it looked rare because they only tested for the BRCA GENES. In 2015 My 68 year old sister
got breast cancer for second time, first time she was 40. She had Mastectomy, but at that time in 1987 they did not offer double mastectomies. Since this was her second cancer they did full testing and found she had CHEK2. She was told to have her sisters tested for the gene. Our family history show several Aunts having breast cancer and many family
members even younger one having Thyroid cancer.
In The same month my sister was diagnosed with her second breast cancer January 2015, my primary Dr sent me to Mayo Clinic Jacksonville to get relief for neck pain. In 1982 I was T-boned in my car and ended up with 4 surgeries with final they went through back of neck drilling through cervical C3-C7
and braiding wire to make a solid fusion. Fast forward to November 2013 I was rear ended at a stop light and injured neck and shoulder. So first day at Mayo my neck MRI showed possible Thyroid
cancer. Fast forward My neck situation was put on hold, my biopsy was positive and I was scheduled for Papillary Thyroidectomy 03/2015. After when I returned to Mayo I hand letter from oncology of my sister saying I should be tested for CHEK2. After coming back positive I had consults for breast and colon. Since I Had been doing colonoscopies for over 20 years with polyps every time, and my sons started in early 20’s getting colonoscopies also having polyps. They are both positive CHEK2.
My last colonoscopy showed that I had three flat polyps instead of hanging and was alarming, but they ended up negative so I have a colonoscopy every two years now. In 2016 in January the pain Dr did Radio Frequency Ablations on both sides of my neck to give me relief before my next surgery which was February 2016. I elected for a Bilateral Prophylactic Mastectomies and not wanting to
have implants I a consult with the head Plastic Micro surgeon and he told me he could take fat from my belly and make breast from my on fat called Deep Flap Reconstruction. I had the breast surgeon remove breast and two micro surgeons working each side for 9-1/2 hours. It was not easy at all
I was 64. But I am so happy with results. My other two sisters decided to wait and see and that’s their choice. My older sister with double Breast Cancer
had Papillary Thyroid cancer in September 2016, so that was her third cancer. Hopefully anyone that get Breast cancer they will check for this gene as I believe that it is not rare because they never check
for the CHEC2 gene. Most Doctors have never heard of the gene including my Dr that was doing my colonoscopy told me that it wasn’t true that this gene cause colon cancer. He had just been to a National conference and they never heard of it. The next day before doing endoscopy/colonoscopy he
apologized, he said he did research and what I told him was true. This Dr was a local doctor not a Mayo doctor. We live 4 hours away from Mayo Clinic Jacksonville, and have made that trip 24 times and spent over 100 days in hotels or hospital. Mayo Clinic Is a real Blessing and I would recommend them highly

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Welcome @silentfaith. I'm confident that @ali1974 @sandyjr and others will appreciate learning from your experience with genetics, specifically CHEK2. You may also be interested in this discussion:
– Connection between colon and breast cancer https://connect.mayoclinic.org/discussion/connection-between-colon-and-breast-cancer/

You must be grateful that genetic testing will help your family, especially your children, and their care providers be more vigilant in cancer screening. Colon cancer can, thankfully, be stopped in its tracks with screening. Having to get frequent colonoscopies isn't fun mind you. How do your sons handle this genetic knowledge.

REPLY
@colleenyoung

Welcome @silentfaith. I'm confident that @ali1974 @sandyjr and others will appreciate learning from your experience with genetics, specifically CHEK2. You may also be interested in this discussion:
– Connection between colon and breast cancer https://connect.mayoclinic.org/discussion/connection-between-colon-and-breast-cancer/

You must be grateful that genetic testing will help your family, especially your children, and their care providers be more vigilant in cancer screening. Colon cancer can, thankfully, be stopped in its tracks with screening. Having to get frequent colonoscopies isn't fun mind you. How do your sons handle this genetic knowledge.

Jump to this post

My sons are 43 and 46. My older Sons wife had Breast cancer at the same time as my sister, she was 39, although she is not our bloodline My two Granddaughters have a Mother With BRCA and a Father with CHEK2. They want to be tested as soon as they are settled in a job with good insurance as i was not covered in 2015. My oldest granddaughter is 21 she was hired on as firefighter at age 19 and she is ready to be tested, and after seeing her mother go through Breast cancer she has already made up her mind to Do Prophylactic Bilateral Mastectomies if she is positive for either before she is 30. The 19 year agrees that is also the way she will go. They will both have to be tested for both gene mutations. Both Sons get colonoscopy every two years. And now since they are at 27% for colon cancer they are yearly screened for that.
My younger son has three boys so he will make sure at the appropriate time that they are tested. It’s amazing that many doctors still have never heard of this gene mutation. When I tested positive in 2015 there were only 8 positive for CHECK2 in the Mayo system, wonder how many their are now? Also wondering if mayo checks for CHEK2 with
all Breast Cancers now? And also wondering if insurance is covering Prophylactic Bilateral Mastectomies now? I Pray they are. I am now having bladder and kidney problems so am taking care of what ever comes of it.

REPLY
@silentfaith

My sons are 43 and 46. My older Sons wife had Breast cancer at the same time as my sister, she was 39, although she is not our bloodline My two Granddaughters have a Mother With BRCA and a Father with CHEK2. They want to be tested as soon as they are settled in a job with good insurance as i was not covered in 2015. My oldest granddaughter is 21 she was hired on as firefighter at age 19 and she is ready to be tested, and after seeing her mother go through Breast cancer she has already made up her mind to Do Prophylactic Bilateral Mastectomies if she is positive for either before she is 30. The 19 year agrees that is also the way she will go. They will both have to be tested for both gene mutations. Both Sons get colonoscopy every two years. And now since they are at 27% for colon cancer they are yearly screened for that.
My younger son has three boys so he will make sure at the appropriate time that they are tested. It’s amazing that many doctors still have never heard of this gene mutation. When I tested positive in 2015 there were only 8 positive for CHECK2 in the Mayo system, wonder how many their are now? Also wondering if mayo checks for CHEK2 with
all Breast Cancers now? And also wondering if insurance is covering Prophylactic Bilateral Mastectomies now? I Pray they are. I am now having bladder and kidney problems so am taking care of what ever comes of it.

Jump to this post

If you are on regular Medicare, that will pay for bilateral mastectomy (80%) I think. I just had one with reconstruction. I do not know how Medicare Advantage plans pay. I think with the emphasis on genetics and targeted therapy we will be finding more genetic mutations for all parts of the body. I have the CHEK2 and people in my family have it. I believe that my genetic test looked for 17 mutations. I do not know if there is a test for just BRCA1 and 2. I also believe that genetic testing should be done with the first BC. That way you have the ability to make informed choices on treatment. If a person has a genetic component, they can opt for mastectomy at the time of the first occurrence. I had DCIS in 2007 and IDC in 2018 and genetic testing in 2019. I had lumpectomies both times. I did not have to dwell on whether or not to take the mastectomy route. I had reconstruction at the same time. Do your research on good doctors, plastic surgeons and choice of reconstruction. I had diep flap and the only thing missing now are the nipples which will be formed and tattooed. I have sensation in the skin of my new breasts, but will not have it in my nipples. You need to find an excellent plastic surgeon or you could have problems. I think it is easier to find the plastic surgeon first and he can possibly hook you up with a surgeon…I think they know surgeons that do good work and know they can have a better outcome.

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