Question about familial testing

Posted By
12/20/2011 12:51pm
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Replies: 4

Hey everybody!  I was in on the teleconference, but didn't get a chance to ask my question, mostly because I was trying to figure out the best way to ask it.  I really enjoyed listening to Dr. Harbour and Dr. Flarety. 

Here's my question.  My mother in law passed away from metastatic OM in March of this year.  There is a strong family history of cancer in her family.  Her father died of bone cancer, her brother died from either brain or lung cancer, but was also in Viet Nam.  Now that gene mutations have been identified, would it make sense for her siblings and her children to be tested for the same mutations?  Is there even a test out there that is known in the general physican community for them to request? 

I was also so irritaited during the phone conference because there was talk of doing biopsy's of the OM tumors upon diagnosing.  I asked my mother in laws doctor about doing a biopsy and was told "oh no, we don't do that for fear of the cancer breaking out and spreading to other places."  Just goes to prove even more about the lack of education on this disease. 

Thank you,

Molly Stoffa

The battle was lost, but the war must go on until a cure is found.

Hi Molly,

Check out this article, recently published, about a mutation, BAP 1, that predisposes to Ocular Melanoma as well as other cancers.  No idea about getting testing for it.

Esther

Molly, so sorry, forgot to post the reference:

http://jmg.bmj.com/content/48/12/856.full.pdf 

Esther

Dear Molly,

You are asking a really important and thought provoking question, and, unfortunately, my sense is that we don't know enough to really be able to answer your question effectively right now.  From what Dr. Harbour said on the teleconference, it sounds like families that have the BAP1 mutation are very rare.  We also have to remember that we are still in the early stages of understanding the full picture, and, as you point out, the testing is not available, as far as I know, outside the research setting right now.  And, as you point out in your message, we also don't know how environmental factors weigh in as well....

I will pass your questions along to Dr. Harbour and will let you know if he has anything additional to add.  My guess is that the answer will be forthcoming over the coming years....

I hope you are hanging in,

Sara - CURE OM

When my tumor was sent for genetic mutation testing in 2006 to Dr. Bastian, it showed negative for the common mutations. I just recently had my eye removed in October and I am hoping the testing will show something on the genetic mutation. Still waiting as of now. So many people know what they're dealing with and I suppose it helps if you recur and I am scared thinking that if I do, my oncologist won't know what treatment protocol to give me.

Suzanne from California

Every day I wake up is a gift!