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

Posted by sandyjr @sandyjr, Sep 17, 2019

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?

Interested in more discussions like this? Go to the Breast Cancer Support Group.

Ingegerd Enscoe, Alumni Mentor | @astaingegerdm | Oct 5, 2024

@mchler73
One of my daughters has the CHEK2 mutation. She happened to be part of a study at a free community clinic.
Since then she is monitored twice a year- mammogram and MRI six months apart.
I’m encouraging my other daughter and my son to get tested as well.
I was diagnosed with breast cancer 32 years ago, negative for BRCA mutations. I recently tested negative forCHEK2.

mchler73 | @mchler73 | Oct 5, 2024

In reply to @colleenyoung "Hi @mchler73, I moved your question about looking for other members who have the CHEK2 mutation..." + (show)

@colleenyoung
I will probably have my 14 year old son tested.
At this point, I am pretty confused about all of this and not really sure what to think or do.

Colleen Young, Connect Director | @colleenyoung | Oct 5, 2024

In reply to @mchler73 "My oncologist explained that my Genetic test shows I have CHEK2 Mutation and said it can..." + (show)

Hi @mchler73, I moved your question about looking for other members who have the CHEK2 mutation to this existing discussion:

- Genetic testing...does anyone have the CHEK2 gene mutation? https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/

I did this so you can read the previous posts and connect with others who have CHEK2 like @sandyjr @dianamiracle @wwbosworth @dick61 @astaingegerdm @cjs123172 @flowerfarmerforever @deborahmontana @cartersgirl2 and more.

Mchler, will other members of your family also have genetic testing done?

mchler73 | @mchler73 | Oct 5, 2024

My oncologist explained that my Genetic test shows I have CHEK2 Mutation and said it can be linked to breast, colon and prostate cancers.
Anyone else have this?

Zebra | @californiazebra | Nov 18, 2023

In reply to @deborahmontana "Hi Zebra, I'mm so Sorry and feel beyond stupid for my question and suggestion. YOU QUOTE:..." + (show)

@deborahmontana
I appreciate all suggestions and that you cared enough to make them. Thank you. 🙂 Zebra

dick61 | @dick61 | Nov 17, 2023

I have it and in 2018 was treated with proton beam radiation at MN Mayo. Did well. In 2021, I had a left mastectomy and 3 positive nodes and 16 proton beam radiation treatments --again at MN Mayo. I am 84 and doing well on Tamoxifen. Will have colonoscopy in February. Last was 2+ years ago. So far thyroid is ok. Sadly 2 of my 3 adult children inherited this nasty gene. Be watchful!!

deborahmontana | @deborahmontana | Nov 16, 2023

Hi Zebra,

I'mm so Sorry and feel beyond stupid for my question and suggestion.

YOU QUOTE:
"I did have genetic testing and I have both the BRCA2 and CHEK2 mutations."
"I not only have a lot of allergies, but am also missing enzymes needed to metabolize a lot of meds. They become toxic in my body."

Thank you for your insight, knowledge and GRACE... Deb

Zebra | @californiazebra | Nov 16, 2023

@deborahmontana
I did have genetic testing and I have both the BRCA2 and CHEK2 mutations. Cancer of many kinds is heavy in my family.

Thank you for the suggestions. The reason I don't try every holistic solution that comes along is because I am very sensitive to everything that goes into my body. My body overreacts to everything. I not only have a lot of allergies, but am also missing enzymes needed to metabolize a lot of meds. They become toxic in my body and are ineffective so I can't take a lot of meds that have been prescribed for me. There are meds and supplements I need to take, but they exacerbate my rare hereditary neuropathy. I don't even take any OTC meds, supplements, etc. because of my history of side effects and allergic reactions. Supplements have been just as bad as Rx. Many, many foods cause me to react negatively. It's a real challenge.

Although I've had some rare side effects, I'm happy I'm tolerating the targeted cancer meds. I can't take chemo because of my pre-x neuropathy so even if there is a new chemo on the horizon, that may not do me any good, but I'll be happy for others.

Right now the targeted cancer meds are working. I have significant side effects, but I can still go out and do things and enjoy life. I am definitely interested in quality over quantity so I don't want meds giving me severe stomach issues that keep me homebound, cause me pain when I can't take any pain meds, etc. I don't want to always be recovering from the next surgery. If I'm just miserable, what's the point? I watched both of my brothers take that route, suffer and lose their cancer battles in two years anyway.

A lot of people swear by holistic treatments, can tolerate things I can't, and if it works for them, that's great. To each his own. I hope the supplements work for you. Turkey Tail Mushroom warning states not to take if you're allergic to mold. I'm allergic to all molds based on my allergy testing. I came up allergic to 72 of 80 things I was tested for -- trees, plants, animals, foods, molds, etc. I know people who swear holistic treatment cured their cancer and know others who tried that route rather than conventional treatment and didn't survive. It's not an exact science for sure. Again, I do appreciate your caring suggestion and wish you well with your treatments of any kind. 🙂

carolina8 | @carolina8 | Nov 16, 2023

I was told that there are two kinds of Chek 2 genes. One not as bad as the other. My mom past on the gene to me but never had cancer which I find weird but I guess it never turned on so to speak. After much thought and talks with oncologist I decided to have a lumpectomy followed by chem and radiation. I decided since I am in my 70’s major surgery might not be a good choice for me. It’s good that you are reaching out to make a decision and see what’s best for you. Good luck with whatever decision you make
Thinking of you
Hugs

Zebra | @californiazebra | Nov 16, 2023

In reply to @deborahmontana "Hello Zebra, "I'm wondering if she used the same scalpel for the mastectomies and the lymph..." + (show)

@deborahmontana

Hello Zebra,

"I'm wondering if she used the same scalpel for the mastectomies and the lymph nodes."

I never thought or considered that, but am a believer.

IF I cut up a chicken on a cutting board, I doubt you want me to use that same board and knife to then prepare a fresh salad. Right? You would want the board, knife and my hands absolutely sanitized - for GOOD REASON which does not require a degree in biology or pathology. Let's explore that more: The gloves and anything else which came in contact with tumor cells? Ughhhh...

IF a cancer patient were to ask one of these loud doubters if they would like an injection of cancer cells from someone else put in their body, I am pretty darn sure they would respond with an immediate "No."

Though 99.9% of all scientists and health care workers will flat out deny that cancer cells can spread via biopsy (digging around in a tumor), low and behold, I found a buried study by the NIH (National Institute of Health). The holy grail...of spreading cancer cells. There's no way these doc's and pathologist's haven't considered this. I TRIED to include the link, but this site won't allow. g o o g l e - N I H T u M or Cell Seeding

As a result of my own online research, it appears 80% of all biopsies are negative. I recognize that surgeons have few choices. This is the difficult part. Without biopsy, it would be unreasonable to offer mastectomies, especially women and men who have a small, but suspicious findings. So, what choices do surgeons and oncologists have? Few, if any. But, I also wonder if radiologists and oncologists do more biopsies than they should. My 84 year old aunt has had like 7 biopsies and none were found to be cancer.

Partial Success! My new oncologist is a human being first and a doctor second. He listened! Yesterday, he agreed to a mastectomy of my right breast with no biopsy. BUT today I learned that my insurance, which 9 years ago would have paid for a mastectomy on both sides, refuses to pay unless I undergo biopsy first.

It is my understanding that as I write this, the oncologist is attempting to set up a pathologist who would be immediately available to examine the tissue removed. IF the tissue sample/biopsy were to be cancer, then I would be taken immediately to OR and have breast removed/mastectomy. This oncologist is probably a 1% er'... who cares.

There is almost no explanation for anyone having a very small cancer biopsied (LCIS - DCIS - under 10mm), then removed with lumpectomy (later) - and years later after being told they were "cured" and "beat it," diagnosed with Stage IV. Biopsies must be responsible for spreading the cancer or cells naturally break off from the main tumor and move via lymph and blood (I believe that is Angiogenesis). Not sure if I spelled that right!

After my original diagnosis, I spent the next 2-3 years living in continual fear of cancer. It occupied my mind on and off, all day long every day. Very unhealthy, mentally and physically. I managed to put it aside for the most part and rarely talk about it. I would become stressed mostly in the month or two prior to scans/mammograms, etc. Then find calm again, until this recent suspicious finding, something I never imagined (other breast).

At best, this is a conundrum...

I believe it is wrong (per the study) for anyone in the healthcare field to claim cancer cells cannot be spread during biopsy. The cells are microscopic and even the needle or scalpel would have some attached, which would obviously migrate to other areas.

Jump to this post

@deborahmontana
We're on the same page with the possibility of spreading cancer with biopsies. It only makes sense when you think about it. It's a catch 22 though since you need the biopsy to know if it's cancer and what kind. My brother thought he injured his back at the gym due to paralyzing pain. They found tumors and suspected they were bone cancer, but the biopsy revealed it was stage IV lung cancer that had already spread to his spine and pelvis. He never smoked a day in his life so it was a shock and the two primary tumors they then found in his lungs never caused any symptoms throughout his battle. They never would haven't know what kind of cancer or how to treat it without the biopsy.

Good luck on your mastectomy. I hope you have a quick recovery and that will put your mind at ease so you can enjoy life without thinking about it all constantly. I really didn't think about my cancer for years after my mastectomy until it recurred. All my followup appointments and new physique just felt like the new normal and I really didn't expect to hear bad results from scans. I have more scanxiety with my current situation, but I still enjoy life and try not worry about it in between scans.

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