Any PTEN genetic mutation carriers? (Cowden Syndrome)

Posted by poupette @poupette, Jun 10 12:50pm

Hello everyone from Canada,

I know that it is a rare genetic mutation, but may be I am not the only carrier in the community. 🙂

Interested in more discussions like this? Go to the Cancer Support Group.

Colleen Young, Connect Director | @colleenyoung | Jun 23 8:39pm

I'm tagging a few members like @nlb122 @auntieoakley @scary1 @delizzr @bkandrew, who have mentioned PTEN gene mutations (Cowden Syndrome) and may have more to share.

@poupette, how was the PTEN gene mutation discovered for you? Did you and your family have genetic testing due to someone's cancer diagnosis?

Chris, Volunteer Mentor | @auntieoakley | Jun 23 9:49pm

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?

poupette | @poupette | Jun 24 5:29am

In reply to @auntieoakley "Hello @poupette you are not alone. I was diagnosed with cowden syndrome some years back. My..." + (show)

@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.

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Chris, Volunteer Mentor | @auntieoakley | Jun 24 8:26pm

In reply to @poupette "@auntieoakley @colleenyoung Hello Colleen and Chris, I copy/paste why I mention in my profile, I'm 53...." + (show)

@poupette , I find it very interesting that you also have autism. I was diagnosed with Asperger’s a few years after my initial breast cancer diagnosis. Also I have polyps, last check removed more than 20.
I wonder if there are any other members with this syndrome, and what similarities run among us.
Do you get hamartomas?

poupette | @poupette | Jun 25 4:08am

In reply to @auntieoakley "@poupette , I find it very interesting that you also have autism. I was diagnosed with..." + (show)

@auntieoakley Learning at 49 that I was autistic was a revelation for me! My older brother is also autistic but doesn’t have an official diagnosis, he was diagnosed with a psychomotor retardation, not surprised because in the 70’s autism was not diagnosed in our European birth country. And so my dad was also for sure autistic, but I will never know.

Being autistic and/or ADHD is not rare as in a FB support group of carriers of the mutation there are other neurodivergent people.

And yes I have hamatormas, way too many colon polyps (it seems that I can’t get them removed in my Canadian province), a macrocephaly (big head), and bumps in/on one hand, fingers and gums.

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