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