CHEK2

I'm Chek2 positive. I am going for genetic counseling next month. I am planning on having a prophylactic mx on my non cancer side next year.

Hi ditzy,

So far I am doing well. I am in the middle of radiation. I healed well from my umx without much issue. This genetic stuff is very interesting.

I am BRCA 1&2 negative, but CHEK2 positive. The CHEK 2 positive mutation is associated with both breast and colon cancer. I have a lot of colon cancer in my family, and have had several polyps removed. I met with my genetics doc yesterday, and will stay in touch with her every couple of years. I get colonoscopies every 3 years. At this point, all I can do is be vigilant, which I am. I'm happy to have the information. I'm sure when I see my genetics doc in 2 years (good Lord willing) there will be a ton of new information. Fascinating field!

I also have the CHEK2 mutation. (1100delC) I was already planning to get a bilateral mastectomy because I had an aunt who dies in February from a recurrence of breast cancer (also recurred in her lungs- she probably had the Chek2 mutation too, but was never tested). I finished chemotherapy in November and just started radiation last week. Doing radiation scares the crap out of me, really, because this gene is supposed to be a tumor suppressor, but its mutant- so it lets tumors grow instead of squashing them. How do tumors grow? by DNA damage. What does radiation do- damage DNA. Unfortunately there isn't much information on CHEK2 mutations and how to best treat patients who have them. So I just follow the standard course and do my best and trudge on...

I did start a CHEK2 mutation group on Facebook, in hopes of finding people who have this genetic issue not related to just breast cancer.

just found out thus morning that I too am Chek2 +. I've has breast cancer twice so I'm not that surprised but I've never even heard of this before. I had a bmx on December and my mom is now getting tested. What other screening should I be getting?

BethL, When I found out that I had the Chek2 and PALB2 mutations, I notified all my doctors, including my specialists. I have nodules on my thyroid also, which have been followed for several years. My mother had thyroid cancer when she was 48. There is a LOT of colon cancer in my family, so my GI doctor has advised colonoscopies every 3 years starting in Nov. I saw a GYN yesterday to discuss ovary removal (since my BC is ER+) or full hyst. I have 2 sisters, a grandmother, and grandmother's sister who had uterine cancer. One sister also had BC 3 years ago. The GYN recommends full hyst later this summer. <le sigh> When they get done with me I'm gonna be a boy...

Hi! I have the chek2 mutation as well. There aren't many of us! We just started a "chek2 mutation support group" on Facebook. There's several ladies with and without cancer who have the gene. Mostly colon and breast cancer. It would be great if any of you could join We aren't alone anymore ladies ♡♡♡♡♡ xoxo

Hi, I learned that I was Chek2 positive last summer. I have one aunt with ovarian cancer in her 70s but no other known cancer in my family. I have had multiple lumpectomies and 15 biopsies over the past three years (all papillomas, radial scars) that led me to look at gene mutations. I recently made the decision to have a double mastectomy and am two weeks post surgery today, I feel relieved, happy .I do want to share with the group that I had a battle with my insurance company to cover prophylactic double mastectomy and reconstruction for Chek2 mutation. The insurance companies follow the NCCN guidelines and as of now the guidelines don't recommend mastectomy as course of action for Chek2 mutation. So if you are looking at this as an option talk with your health insurance carrier first. My surgeon - who is an extraordinary person and advocate - helped me fight this and she believes that things will change over time but we are not there yet like we are BRAC. I hope that my experience will help others.

Hi ladies...

I tested positive for the CHEK2 gene last year after my diagnosis. Both of my maternal aunts had BC (one when she was in her 40's and had a recurrence 20 years later, and my other aunt when she was in her 60's). According to my report the mutation is c.1100del (p.Thr367Metfs*15)

I'm going to check out the Facebook page! --Lorie

Hello beautiful ladies,

First of all, thank you for all your support!

I'm 38, I was diagnosed with BC last year and I'm also CHEK 2 positive. I only have a cousin with BC and an aunt passed away from stage IV stomach ca. Now I'm very worried about my sister, my mom and my 2 little daughters (2 and 4). My sister is very hesitant to have the genetic testing done, she is in her early 30's and has no kids yet, genetic counselor unclear about when can I check my daughters.

Stay strong everybody!

Xoxo

Thank you, BethL, for your helpful insight! We truly appreciate it.

The Mods

Hi all, I recently got my genetics testing back with a CHEK2 mutation. Mom and both her half-sisters had breast cancer at a young age, and three of their daughters as well, so obviously there's evidence of a strong family history. I do not have BC myself. I'm wondering what other women in this situation are considering for preventative and precautionary measures? I was already considering prophylactic mastectomy due to the family history. Now I feel even more concerned. Can anyone share your decision/thoughts?

I am chek2 positive. My dad and his brother had prostate cancer, their sister died at age 49 of ovarian cancer. My dad had a cousin with colon cancer, and a cousin and aunt with uterine cancer