PTEN/Cowden's

Anonymous

Has anyone been diagnosed with a mutation on the PTEN gene? Or Cowden's? I was diagnosed after seeing a counselor for the BCRA results, which were negative.  She (counselor) says the mutation on the PTEN gene is the 'reason for it all,' referring to the cancer & everything else that seems to be falling apart.  I was curious if anyone else has a similiar situation going on.  I am on my second breast cancer, and now armed with this info, I am worried that I'm going to spend the rest of my days fighting cancer in one way or another.

RockHound

Not diagnosed by genetic test (it was negative), but by clinical diagnosis.  Will confirm next week when I see a doc at NIH who studies this stuff.  My sisters have had thyroid and breast cancer, mother had colon cancer, all while in our 40s and we all have the keratoses (or what I THINK are keratoses) on our palms.  It's very rare, so I would still be surprised if we have it, but with the family history, it's definitely something to look into.

The genetic test is only 80% accurate, so 20 out of 100 people who have it may not get a positive result.  Subsequent recommended screening by genetic counselor led me to find out my thyroid is enlarged and I have a "thickened" endometrium, will find out more tomorrow.

lizcola

Cowden's was floated as a possibility for me by a doctor that I only met with once.  I had lymphoma at 18, thyroid at 30 and breast at 31.  I don't have any other symptoms for pten and the consensus by every other doctor I met with was that my secondary cancers are most likely related to the radiation I received for the lymphoma.  I haven't been tested for Cowden's (too scared right now for the result), but I'm interested to hear other's experiences.

smallbutpowerful

Hi, I have Cowden Syndrome. I'm in contact with about 50 others who either have Cowden Syndrome/BRRS or are parents of those who have them at www.ptenworld.com.