General discussion

Floss07

MLH1 and PMS2 genetic testing

Had my follow up appointment post surgery at hospital today and asked all my questions. Nurse told me that consultant had asked for testing of loss expression in MLH1 and PMS2, also that there was mucinous focus to my tumour but was in one small area only. She could not explain the significance of these things and consultant was on holiday. Am Stage 1 pT2 N0M0 with poorly differentiated cells. Can anyone explain the significance of this to me. I know it is something to do with MSI but not sure of the impact of all this and why he would have requested all this when sent away 'cured'.
thanks

Floss07

Not clear in my post but it is the significance of mucinous and the genetic testing I don't know anything about - assumed it is connected to the poorly differentiated cells?

Bear G

Hi @Floss07
There may be someone on the forum that can share their experience of genetic testing but for a technical question such as this could I suggest also posting in Ask The Nurse so they can share their expert knowledge with you?

Big hugs
Bear
:x::x:

Floss07

Thank you will do :x:

1234annie

I'm not sure what that means @Floss07
Mine are poorly diff but I'm repeatedly told it's not genetic. :x: :x:

jj

@Floss07, Sorry, I don’t know. But I think it might be related to Lynch Syndrome

Bear G

Hi @Floss07
I’ve just checked this out and I believe these are tests for something called Lynch Syndrome, if you test positive for this then they would ask your family members to be tested as it can show an increased risk of Bowel cancer. If they test positive then they’d be monitored closely going forwards so they can be treated before anything becomes problematic.
I do think you should still ask the nurses, or call your unit and ask them, just to be sure.

@1234annie , it’s good yours isn’t genetically linked and it’s a completely different thing to the cancer being poorly differentiated.

There’s more information here
www.bowelcanceruk.org.uk/...lynch-syndrome-testing-explained/

Big hugs
Bear
:x::x:

Jomo9

@Floss07 they are two of the four genes in Lynch Syndrome. They thought I was positive but I was negative! It was to do with my young age (41) and poorly differentiated tumour. It’s most common when Bowel cancer runs in the family.

Floss07

Thanks everyone understand now - surprised colorectal nurse didn't know!