Genetic info

Hi all,

Before I started chemo 2nd time around, I had a meeting with the Genetic department at my hospital. Prior to the meeting I had a form to fill out, like a questionnaire about my cancer, and several lifestyle questions, a general kind of background into my life. I also supplied them with a family tree which required info on parents/granparents/great-grandparents and aunty and uncles - especially if there had been cancer in their lives.

At the meeting I was told that there were no specific indicators genetically that showed increased Pancreatic Cancer risk, unless of course if there was a history of PC in the family already (which in mine, there is not). However, there has been cancer in my family:

My grandmother (maternal) = lung cancer (found too late, already spread to brain, died shortly after diagnosis) age = 75

My great-grandmother (maternal) = lung cancer (don't know the full details as she lived in Italy, but I think she was in her 60's when she died)

My grandmother (paternal) = basal, melanoma and rodent/rogue, she is 85yrs old, and this happened twice from the age of 60 onwards.

Basically, I was told there were no genetic tests that could help explain why I developed this and that my family history shows that it is highly unlikely that it is anything gene related. However, they would store my blood for future referrence if anything did get published that pointed directly to the increased risk of PC.

It would also be stored to benefit my children if they developed cancer and needed my DNA to be checked against etc. (although they said it would be unlikely for them to develop PC).

Anyone else had one of these meetings?

I did a little research and found:

http://www.cancerhelp.org.uk/help/default.asp?page=7520

(it is backed by various other sites which give more technical info, the above I deemed easy reading)

What interested me is that BRCA2 gene has been identified. This is mostly linked with breast cancer. Treatment for this type of cancer has moved on leaps and bounds. Patients are being treated with PARP inhibitors which show promising results and are far gentler on the patient than traditional chemotherapy.

http://news.bbc.co.uk/1/hi/health/8116790.stm

http://www.saga.co.uk/health/news/new-cancer-drug-offers-fresh-hope-015.asp

I returned to the Dr. I spoke to with the above information and she said she thought it highly unlikely I would benefit from a genetic test to see if I had the BRCA2 gene, as my family history didn't point to that, also if they were to test me, it would take 12months to receive the results. I could however PAY to have it done at a cost of £1200.

So, I thought maybe I am barking up the wrong tree, grasping at straws, looking for a 'reason' etc, hoping that PARP therapy could be of use to me.

Then I stumbled across FAMMM syndrome:

An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. FAMMM syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer. Also called familial atypical multiple mole melanoma syndrome.

So trawling the internet for further info, and I have to say the majority of sites are far to technical for my chemo brain to cope with, but I found this very interesting. FAMMM is linked with p16 gene mutation and.....BRCA2.

This book has lots of info on Pancreatic Cancer - and some interesting reading on genes etc:

http://books.google.co.uk/books?id=XjmHzI1LBH4C&pg=PA28&lpg=PA28&dq=pancreatic+cancer+and+FAMMM&source=bl&ots=saCQCyJ3Yi&sig=J9N7frISgnh76ZcwCmCfO40aggE&hl=en&ei=f_zWSvaSMpT14Aa4qYDOCA&sa=X&oi=book_result&ct=result&resnum=9&ved=0CC0Q6AEwCA#v=onepage&q=pancreatic%20cancer%20and%20FAMMM&f=false

I have no history of Breast Cancer in my family (that we know of) - however we do have a history of 'dodgy moles'!

My Grandmother is covered and has had melanoma/basal/rodent moles removed and radiotherapy.

My Aunt has had several removed 'incase' they turned cancerous.

I had one removed at the age of 14 because it looked suspicious.

Could this mean anything?

Nicki/Ellie - any of this relevant in Ted and Brian's family history?

I am in two minds to get myself tested for p16 and BRAC2 - just so if they are there, I can make sure my children get monitored closely instead of sitting back with the 'highly unlikely' scenario. I would approach the genetics department again but I got the impression they weren't that interested and they never sent out the letter with a contact email for further discussions as promised......lol.

Kind regards and sorry for the wall of text!

Juliana

Hi Juliana and thanks for all that information. As far as Ted is concerned, his father died of lung cancer but that was due to a collapsed lung which the doctors failed to diagnose. Other than that, he has no cancer-related deaths in his family that he knows of.

The decision as to whether to have the gene test is a very personal one and you must, of course, do what you think is right for you and the children. However, if you do decide to go ahead, you will need counselling so that you can cope with the possible implications of the results. With that in mind, I suggest that you contact the genetics department again - don't be put off because one person didn't seem interested: they may just have been having a bad day. If, however, the genetics department fail to respond again, you will need to borrow some of my "mouthy cow" attitude and involve PALS or complain. Given that they've mucked you about, tell them that you expect them to fast-track the genetic test because of the delay they've caused (ok it may not work, but it's worth a try to save the extortionate fee!).

Let us know how you get on.

Kind regards

Nicki

Juliana

just read your post re genetics. Blue and I went to see the genetics department and he also had to fill in a family history questionnaire.

For Blue, although no PC in his family, his sister died of cervical cancer and both his mother and paternal grandmother have had breast cancer, his nan will be 90 on halloween!!

The doctor we saw at genetics at XX explained that it wasn't genetic, but it sounds as though she was a lot more helpful that the person you saw. She explained about the breast cancer gene but in more detail. It appears that those with the gene would have a history of problems, mainly gut/digestive problems and including having surgery to remove what the doctor described as (can't remember the actual word sorry) but nodules internally because of problems.

Blue's DNA is also stored on file for future reference and if we need to refer to it for his sons.....but alas, as she agreed with Blue's comment, it's just bad luck.

She did say that screening is quite invasive.

Hope this helps.

Clair

Thanks Clair,

That is really helpful.

I had no idea the screening was invasive though......I wonder how it works.

It's also interesting that his Mum and Nan have had breast cancer, do you know whether they were tested for BRCA1 and BRCA2?

I was so shocked to learn that men can also develop breast cancer....I just thought it was a woman's disease, it makes you wonder how this faulty gene - if you have it - will manifest itself and what type of cancer it may - given the opportunity - cause.

The digestive problems the doctor mentioned, were they anything to do with Diverticulitis?

Thanks for the reply, all the best -

Juliana x

Hi Juliana

from looking up Diverticulitis I can answer that no, what the genetic Dr was referring to doesn't sound like that at all, god I wish I could remember what she said, but I remember that she said people with the gene would know, because of the other health problems which would include numerous surgeries to remove what I described as nodules, she didn't say that word, but someone would definitely know because of having surgery to remove them

Sorry I can't be more help....still on information overload

Clair