Connect
← Return to Any PTEN genetic mutation carriers? (Cowden Syndrome)
Discussion
Any PTEN genetic mutation carriers? (Cowden Syndrome)
Cancer | Last Active: Jun 25 4:08am | Replies (5)Comment receiving replies
Hello @poupette you are not alone. I was diagnosed with cowden syndrome some years back. My family has a history of cancer and sometimes at very young ages. When I was first diagnosed with breast cancer in my 30’s I was told it was not a genetic cancer because my mom didn’t have breast cancer.
Fast forward just about 8 years and they tested me for BRCA and it was negative. Given the amount of cancer in my family and the dimensions of my head they tested me for cowden syndrome and said it was positive.
Most people, even many doctors have never heard of it. How did you find out?
Replies to "Hello @poupette you are not alone. I was diagnosed with cowden syndrome some years back. My..."
Connect
@auntieoakley @colleenyoung
Hello Colleen and Chris,
I copy/paste why I mention in my profile, I'm 53. The mutation explains also probably my autism and ADHD per the geneticist report.
2022: I learn for autism
2023: 1st breast cancer diagnosis after the first routine mammogram
2024: 1st mastectomy
2025: blood work for genetics because of my maternal grand parents cancers plus my own diagnosis, I have no idea for my paternal side. The result is a rare genetic mutation diagnosis (PTEN) + the same year: ADHD diagnosis + 2nd breast cancer diagnosis + 1st round of monitoring exams and appointments related to the mutation
2026: 2nd mastectomy + 1st colonoscopy and endoscopy
Many doctors indeed have never heard of it, it's something that I am learning to deal with.
I have discovered this community thanks a fellow cancer survivor. I needed to exchange with people regarding to colectoral cancer (I don't have one, but I have precancerous polyps), and I have posted and got answers in the dedicated support group.
View Translation