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Anyone else have CHEK2 gene mutation? And have had multiple cancers?
I've had skin cancer, double mastectomy due to breast cancer & reconstruction, and now thyroid cancer & had to have thyroid removed. I'm scared & frustrated & I'm not getting a lot of answers from my Drs bedside blood tests for cancer markers. I'm tired & frustrated & am needing advice from others like me in this situation.
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@colorado73
You've been through a lot in a short time. In 2013, I had my ovaries/tubes removed due to the BRCA2 mutation. We didn't know about the CHEK2 mutation until 2018. I asked my GYN at the time if he could just take the uterus too so I would never need another surgery and he wouldn't do it at my request because it increased risk. Now that I'm hearing more about CHEK2 and your plan, I really wish he would have! I don't do well with abdominal surgery at all so I will never have my uterus removed proactively.
Good luck with your armpit ultrasound. I'm really hoping it's just hurting because of lymphedema cording. I get pain from that. I also have so much pain and tenderness down my sides from my double mastectomy 10 years ago and especially from the chest tumor I had removed 3 years ago. Nerves can be very unforgiving after surgery. Let us know how it turns out. Blessings and hugs, Zebra
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1 ReactionThank you so much! I appreciate the support, really I do. It's been a breath of fresh air getting in touch with other people who have issues like me.
I will definitely keep everyone updated when I see my Dr again & the results of the ultrasound as well. I actually see my plastic surgeon on Monday. It's my 6 month follow-up.
Thank you again for support & well wishes!💕
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2 ReactionsMy Primary sent me to Mayo
In January of 2015 to get some relief after I was rear ended at a stop light. I had a bad accident in 1982 and had 4 surgeries on my neck. The first test was an MRI of my neck, and they saw thyroid cancer. After biopsy they confirmed it was Papillary cancer and set up surgery.
In a consult I told them that my sister was on her second BC at ages 40 and 68 and she test positive for the CHEK2 gene. They then test me right away, I was positive. At that time they said that they only had 8 patients in all of Mayo with CHEK2 and that it was rare. Well guess what it wasn’t rare because 8 out of 10 families members tested positive for CHEK2. Myself my 3 sisters , My 2 sons and nephew and a niece. I’m sure there are many more that have it but choose not to get tested. It carries so many cancers. After my Thyroidectomy at Mayo I saw
Drs for BC, and Colon Cancer. My family’s history
Show it must have come from my fathers side with 3 sisters that had BC. In 2016 I opted to get a Prophylactic Bilateral
Mastectomy with Deep Flap Reconstruction at Mayo with
3 Drs and 9 1/2 hours. After that my Sister with the 2 BC
got Thyroid Cancer. So now CHEK2 is not so rare as we were told.
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1 ReactionThank you for sharing. I'm so sorry! My mother's side is where this came from. There's generational breast cancer, Colon cancer & thyroid cancer that runs rapid in that side of family. But my dad's mom had bc at age 90 & had breast removed with no treatment & lived to be 106! And my dad had prostate cancer in '92 & beat it but in 2014 was diagnosed with stage 3 brain cancer & died in '2017.
I've lost many people in my family to bc & thyroid & colon cancer. Not many left to ask questions to. But al of us cousins have been tested & out of 8 cousins, 4 have the chek2 gene.
Good luck to you. I pray we can all find the right Dr's to help us make the best decision for our health!! It's frustrating when my Drs say - We don't know or have that much information on it cause it's so rare!! So they just tell me to do surgery after surgery taking out organs. I'm definitely tired!!
And I have hysterectomy coming up in October to look forward to with out estrogen replacement! Ugh. I will be soon doing the Radioiodine treatment from my thyroid cancer & NOT looking forward to it. My Oncologist suggested I do it but my Endocrinologist doesn't want to due to the risk of others cancer popping up from it. Ugh... Frustrating!! I can't go to Mayo due to my insurance, so my oncologist is sending my medical records up there to them to get advice on what to do. I see him next month for those results. Crossing fingers I get some news back!!
Thank you again for sharing. Blessings to you and your family.
I had Papillary Thyroid cancer. Couldn’t get everything out because all my neck surgeries caused allot of scar tissue there. I get an ultrasound every year just to check. Mayo Dr said I didn’t need the Iodine treatment. I know that the Medullary Cancer is a different story. I am 72 now and have been dealing with POTS COVIDE
After first COVID infection in October.
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1 ReactionSo Sorry for your loss
It’s hard enough having your family pass, but cancer deaths are even harder. Prays for you.
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1 ReactionThank you so much.
Yes, it's truly been a rough road my whole life. I'm only 50 & I'm the last one of my family members. No aunts, uncles, sister, parents or grandparents & only a handful of cousins left. Pretty sad. And been very hard not having my mother here with me to talk to or my sister about everything I've been going through. But I've got a very supportive husband & in laws so I'm blessed.
Thank you again. Prayers be with you & your journey.
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2 Reactions@silentfaith -- It sounds like your family has been hit hard with cancer just like mine has and the families of so many others. So many in your family have the CHEK2 mutation because it's hereditary. It's definitely common within certain families. It's no fun knowing you and your loved ones have an increased risk for multiple cancers.
As for the CHEK2 mutation being rare, the official definition of rare is not what many of us would think of when we hear rare. In the US, a rare disorder means a disease that affects less than 200,000 people in the US at any given time. That seems like a lot to me, but not in comparison to something where millions have it. Research dollars go to the common diseases/disorders. There are over 200,000 primary care physicians in the US so that means any given one may never have seen or heard of the CHEK2 mutation so it's certainly rare to them and that's not so helpful to us.
CHEK2 - about 1 in 333 - 500 in US (people of Eastern/Northern European descent are 1 in 100-200)
BRCA1/2 - about in in 300 - 800 in US
For some perspective, here are some other definitions:
Very common - 1 in 10 people (10%)
Common - 1 in 10-100 (1% - 10%)
Uncommon - 1 in 100-1,000 (0.1% - 1%) CHEK2 and BRCA1/2
Rare - 1 in 1,000-10,000 (0.01% - 0.1%)
Ultra rare - 1 in 50,000 fewer than 20 per million, many affect 1 in a million or less
*Statistics may vary by source (and by US vs. other countries/world)
There are thousands of rare diseases and about 10% of the US population has a rare disorder. So, ironically, it's not rare to have a rare disorder. Some disorders are worse than others, of course, but everyone has their own battles. I have CHEK2, BRCA2, HNPP (rare/ultra rare), Lung NETS (rare 1 in 20,000) and DIPNECH (ultra rare only about 200 documented cases, but thought to be under-diagnosed). My son has the first three listed. If we took more genetic tests, would we have more? Maybe. The silver lining is that at least the genetic tests let us know where we need to focus. As I'm sure you all do, we also have lots of common disorders that aren't any fun either.
You know the old humor about someone assembling something and when they are done there are a few parts left over? Ruh-roh. Sometimes, I think maybe a few of the nuts and bolts were left behind when I was assembled. We count on our medical teams to provide us with some of the spare parts we need for stability. 🙂 Best to all of you.
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2 Reactions@colorado73 -- wow about your grandma who went on to be 106! That's amazing in itself even without having had cancer. I had a great aunt who had uterine cancer in her 30s and had the controversial cobalt treatment in her day. She went on to live a very healthy life and made it to 93. I saw her at her 90th birthday party and she was in amazing condition.
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2 ReactionsThat's wonderful to hear!
Yes, she was an amazing woman & very spiritual. Loved life to the fullest!
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