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Topic: chek2 risk assesments

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, MSH6, NBN, p53, PALB2, PMS2, PTEN, RAD50, RECQL, and RINT1 genes

Posted on: Jul 6, 2017 08:57AM

tmrblv wrote:

Hi everyone,

I found out I am chek2 1100delc positive about a week ago.. My mother had BC at 37 years old (I am now 32)

The problem is there is so little information - my geneticist told me that I have X2 probability of getting sick, but I saw some research talking about X5 considering my family history. There is a huge difference among them, in terms of a decision on prophylactic mastectomy. The problem is this mutation is very rare where I live, so maybe the geneticist is not up to date with relevant research

Also, he told me that it doesn't increase the risk to other cancers, but from reading here and from my family history (grandmother had colon cancer) I get a different impression..

Does anyone have any information regarding the risks?

Thank you very much

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Jul 6, 2017 09:27AM mustlovepoodles wrote:

My family is just riddled with camcer, mostly breast and colon. According to both my genetics counselor and my GI doc, my Chek2 mutation raises my risk for breast and colon cancer. Therefore, I recently had a colonoscopy and will continue to have them every 5 years, forever. The last one revealed some benign polyps, which have never shown up before. But I'm 60 and this is when stuff starts changing in our bodies, so I'll need to stay on top of it.

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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Nov 6, 2017 12:21PM Crys237 wrote:

I tested positive for CHEK2 last year in June when I was 36. I was told that makes me high risk for breast and colorectal cancer. Started the breast testing in December. They found dcis in the right breast and nothing in the left. I decided to do bilateral mastectomy since I knew with the gene and strong fam history of breast cancer that it was just a ticking time bomb. Glad I did it. The pathology came back in the left breast and they found invasive cancer. I'm recovering from the mastectomy nowand have another surgery after Thanksgiving to see if it has spread

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Nov 6, 2017 02:02PM Moderators wrote:

Dear Crys237,

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Nov 6, 2017 02:08PM Denise-G wrote:

My sister and I are also Chek 2 1100 delc - we both were diagnosed with breast cancer at age 55. My cousin was diagnosed with kidney cancer, also at age 55.

My dad's side of the family had lots of colon cancer and other cancers, but we were the first with breast cancer. We try to have as many tests as we can, but

sometimes we need a break and can't take it any more!!

www.denise4health.wordpress.com my BC Blog with over 200 informative posts about all aspects of BC - stop by! Myself, my mom, and sister were all diagnosed with BC within 3 years. What a ride! Dx 10/10/2011, IDC, Left, 6cm+, Stage IIIA, Grade 2, 9/14 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/22/2011 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left Chemotherapy 12/26/2011 AC + T (Taxol) Targeted Therapy 2/27/2012 Herceptin (trastuzumab) Hormonal Therapy 10/10/2012 Arimidex (anastrozole)
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Jan 25, 2018 05:20AM - edited Jan 25, 2018 05:23AM by Elijahgirl

So I initially thought I had BRCA 2, I actually thought CHEK 2 was the same thing as BRCA 2. It turns out that I have CHEK 2. I almost wished it was BRCA because I can hardly find any information on CHEK 2. Myself and 4 of my immediate family members have had some type of cancer. Both my mother and my sister have had BC. And now they found something suspicious on my MRI. The thought of going through chemo and radiation ags terrifying does anyone know which is worse CHEC2 or BRCA 2

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Jan 25, 2018 07:37AM triscuit wrote:

Elijahgirl - CHEK2 is considered overall moderate risk mutation and BRCA1 and 2 are considered high risk. Although the risk for breast cancer you may see as "high" for either one. It needs to be taken into context with family history. For an individual, neither one is "worse", but statistically there is higher known risk for BRCA. As mentioned though there is fairly limited research so far on CHEK2 comparatively.

I tested positive for CHEK 2 1100delC back in September. I had been having some breast findings - so far thought to all be benign papillomas, and have an extensive family history of cancer of various kinds but no known breast cancer.

The established risks are for breast and colorectal cancer and there are NCCN guidelines for screening for breast cancer of annual screening mammogram and annual MRI with contrast beginning at age 40, or earlier based on family breast cancer history. For colon screening, every 5 years starting at 40, or before if family history. More often if polyps or other abnormal findings.

There are other cancers that have been linked to CHEK2 including thyroid, prostate, kidney and melanoma. There are no current guidelines on those, but individualized monitoring is recommended based on family history and personal history.

Here's a good document I found.

For me, I'm doing 6 month follow-up on breast ultrasound, mammo, and MRI due to the findings I've had, will be moved to annual on each if no changes. I am being followed with thyroid ultrasound once a year due to nodules. Annual dermatology screening. I am also being followed for ovarian/uterine risk, because of my family history, although a definitive link to CHEK2 has not been shown. However, there are reports in the literature and within a CHEK2 support group I'm in many mention this as well, so I don't discount the risk at all.

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Feb 1, 2018 09:32PM Elijahgirl wrote:

tricuit thanks for the article it was very insightful

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Feb 6, 2018 04:57PM Tumbleweed77 wrote:

Recently diagnosed with CHEK2...now what do I do? My mother at age 83 died of breast cancer and my grandmother age 75.

Do I just hurry and get my breast removed? I am age 64.

Opinions please.


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Feb 6, 2018 06:13PM MelissaDallas wrote:

You need to speak to a genetics counselor Tumbleweed

LCIS, extensive sclerosing adenosis, TAH/BSO & partial omentectomy for mucinous borderline ovarian tumor.
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Feb 7, 2018 11:28AM mustlovepoodles wrote:

I second MelissaDallas. You need to have a discussion with a genetics counselor who can give you an idea of your true risk. Chek2 is implicated in other cancers (mostly GI and colon), so you'll want to keep surveillance up. For me, that means colonoscopies every 3-5 years--i have strong family history of breast and colon cancer.

Let us know how things go for you.

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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Mar 25, 2018 12:21AM Elijahgirl wrote:

For the past 20yrs my sister who was a true superwoman battled breast cancer and today I'm sorry to say with sadness in my heart that she has lost that battle. She is now with our Heavenly Father and her beloved son.Rest in Peace I love you Brenda! 😢❤️

That being said I have appointment with a PS to discuss about having a prophylactic bilateral mastectomy on Thursday. It is not worth the risk I loss both my mom and sister in the last 4 months.

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Mar 25, 2018 06:53AM triscuit wrote:

Elijahgirl, I'm so very sorry for the loss of your sister. My heart goes out to you. Take care of yourself, and wishing you the best in pursuing your medical options to decrease your own risk.

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May 10, 2018 10:00AM vselegant wrote:

to all who have the courage to post here I so appreciate it and want to thank you all. I just received the news of chek2 positive test on Monday May 7,2018. This information confirmed my worst nightmares for myself and my daughter and son. I was diagnosed with metastatic ductal carcinoma on September 26th, 2017. With that diagnosis my additional news was that my form of cancer is a highly aggressive one. I am the first in my family to have BC.(that we know of going back generations). But my father had an aggressive gastric esophageal cancer as did his father. From day one of my diagnosis I had an underlying fear of not just this area but more so of a secondary diagnosis of lymphoma. I made the decision I would never want to go through a second time of chemo or surgeries so take care of business the first time around and not the easy way out with a lumpectomy. Little did I know this genetic test would confirm my fears. As soon as this diagnosis was given the genetic counselor stepped up to help my family figure out what to do next. A letter was written to be sent to my son and daughter as well as to all my siblings and cousins on my fathers side of the family. This is the first step for them to be tested for these same mutations. If they are positive for anyone then their next step is to continue the testing for their children. There has been posted everywhere on cancer sites the clinical trials and testing results from all over the world since 2004 in Europe as well as the USA. Since this news to myself and my family it is a race to make sure the treatments that have already happened and the decisions for future treatments are now the correct ones to continue. My treatments kept changing from day to day in the beginning since my cancer is a highly aggressive one. But as treatments became reality my responses were truly more successful and surprising that baffled my doctors. Now they understand why. I was lucky with the most positive responses to neo adjuvant treatments( and yes I was one of those rare ducks that had the rare side effects they couldn't explain). I continue to show rare side effect 6 weeks out of my 12 week regemin of taxol which can happen up to 10 years out from the chemo treatments I had and I am not headed to a double skin sparing mastectomy with reconstruction. I get to look forward to 3 to 4 total surgeries to get me to a halfway normal looking old me. I didn't sign up for this diagnosis and I don't take no for an answer and I refuse to settle to look in the mirror everyday to be reminded of my journey by the ugly scars I would see on my chest. One surgeon told me in an interview that when all is said and done, only myself and my husband would see the scars that are left behind in the mirror and it was a waste of my time to go through added procedures of reconstruction. To all of you out there battling with these decisions, never let anyone tell you that you need to settle for what they want you to do.. You believe in yourself and what makes you feel beautiful and right for you! Always ask questions and if you don't understand then ask again. This journey is the hardest thing I've ever had to travel and there is sometimes no support and it leaves me drowning. Thank you again for all who share in these forums for it is all of us who are actually going through our journeys that are the true support for those who travel along side with us. I will post next my out come of my mastectomies and further surgeries. Victoria.

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May 10, 2018 10:35AM mustlovepoodles wrote:

vselegant, I'm sorry for your news. I completely sympathize--I have Chek2 and PALB2 gene mutations, both onsidered rare. Two of my children have been tested--31yo DS was negative for both, 25yo DD was positive for both. My genetics counselor estimated my lifetime BC risk at 45+%. My DDs lifetime risk is 58+%. That's a heavy load for a young woman to bear. All I could tell her is I'm sorry and I'm glad she will have opportunities for surveillance that i never had. Hopefully, she will be able to avoid BC with prophylactic surgeries and medications.

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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May 10, 2018 01:22PM Hamtram wrote:

I'm third generation diagnosed with BC. My grandmother died in her 80s from it. My mother, at 57, was diagnosed with non invasive carcinoma in her left breast. Stage 0. She had a bilateral, and has been cancer free since. I'm now 57, and in March 2018 was diagnosed with IDC, left breast. The right appeared clear. Discussed lumpectomy with Oncology team, and I told them I was inclined to follow my mother's decision--bilateral.

Then they recommended the Genetics test. Came up Chek2 and ATM. My siblings have moved into action for their healthcare, and my surgeon agreed, bilateral might be better way to go.

Bilateral performed April 19. One lymph node examined. Looks like Stage 1.

A week later met with surgeon who said, BTW, we found a second tumor in the left breast. If we'd done lumpectomy, she wouldn't have found it. Yay! 

Then, this Monday, I met with my Oncological MD. He said the second tumor is not the same cancer as the initial one. Also, it's bigger and appears to be more aggressive. He strongly suspects other cancer activity is occurring. Specimens have been sent to California, and I'm sitting here waiting for news. Needless to say, my husband, family and friends are just as frightened as I am.

Has this happened to anyone else? I know we can't cookie-cutter cancer, but I would just like some feedback.

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May 10, 2018 06:25PM Meg101 wrote:


Dx 7/14/2017, IDC, Left, 3cm, Stage IIB, Grade 2, 3/23 nodes, ER+/PR+, HER2- Surgery 8/10/2017 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 9/17/2017 AC + T (Taxotere) Radiation Therapy Whole-breast: Breast, Chest wall Targeted Therapy Hormonal Therapy Arimidex (anastrozole)
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May 15, 2018 06:52PM mustlovepoodles wrote:

Hamtram, you might want to repost your query under a new title. This thread is a year old, and while you do have the Chek2 connection, feel like you'd get more traffic on another board. Perhaps the Just diagnosed or IDC boards.

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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May 15, 2018 06:56PM - edited May 15, 2018 07:00PM by Tess1962

I just received my heredity report today and I am also Chek2. I was neg for brca and brca2. My entire report was negative for everything else.

I would like more info on this marker also.

Dr sounded like they are really researching it but don't have much info yet.

I have idc with clear margins and clear lymph nodes. Suffering with lymphedema at the moment.

Had lumpectomy one week ago yesterday.

"The human spirit is stronger than anything that can happen to it." Dx 4/6/2018, IDC, Left, 2cm, Stage IIA, Grade 2, 1/7 nodes, ER+/PR-, HER2- Surgery 5/9/2018 Lumpectomy: Left Hormonal Therapy 7/31/2018 Femara (letrozole) Radiation Therapy Whole-breast: Breast
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May 18, 2018 02:40PM Hamtram wrote:

Thank you. I've got an appointment with my Oncological MD Monday morning with the results from the specimens of the 2nd tumor. I'll be a little more informed then.

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Aug 21, 2018 05:57AM Fernanda2812 wrote:

Hi, I did my genetic test during my treatment for breast cancer (in fact, I have one more chemo). I’m 43 and wnhen my results showed chek2 positive results I was relieved because I have an explanation and scared. In fact, there are so few articles and references about this mutation compared to BRCAs. I have to wait at least six months, but I don’t want to pass through again. Some cancer we can’t controll like colon. I will have to do colonoscopy and that’s it. But another breast cancer I can try to avoid. It’s a very difficult decision. You have to talk about with your family and doctors. Wish you all the best!

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Sep 17, 2018 05:57PM justkelly2 wrote:

Hi Ladies,

I was diagnosed with early stage triple positive IDC in Nov 2016 at age 53. No first degree relatives with breast cancer, and insurance wouldn't cover the cost of a genetic test (which was around $3000 back then) so I proceeded with a lumpectomy, chemo, and radiation. Then I learned that the genetic panel had come down in cost to $250 so I decided to have it done. It showed that I have a CHEK2 mutation (which my daughter unfortunately inherited from me) The genetic counselor says my lifetime risk of a second breast cancer is up to 40 per cent. My oncologist says that since I'm taking Tamoxifen my risk is more like 20 per cent. But he did say that if I had known I had this mutation when I was diagnosed it would have been a "no brainer" to have a double mastectomy instead of a lumpectomy. Now I have to choose between surveillance every 6 months for the next 20 years or so or having a preventative dbl mastectomy. I know its a big surgery which is why I avoided it when I was diagnosed. I'm confused as to what I should do!

Dx 11/27/2016, IDC, Right, <1cm, Stage IB, Grade 2, 0/3 nodes, ER+/PR+, HER2+ (FISH) Surgery 12/22/2016 Lumpectomy: Right Surgery 12/23/2016 Chemotherapy 1/16/2017 Taxol (paclitaxel) Hormonal Therapy 6/1/2017 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Oct 1, 2018 01:39AM - edited Oct 1, 2018 01:39AM by apatient

I have ILC and am also positive for CHEK2. I have bilateral mastectomy with reconstruction scheduled for later this month. For me this is the surgery that will give me the most peace of mind. It's a big surgery, but I felt much better after talking with the surgeon and the plastic surgeon. You might just want to make an appointment with a surgeon to talk it over

Dx 9/10/2018, ILC, Left, 2cm, Grade 2, ER+/PR+, HER2- (FISH) Surgery 10/14/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement

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