Genetic Counseling appt./Which tests to ask for?

[Vic]

I have an appointment with a genetic counselor next month and was referred by my oncologist after a recent diagnosis of melanoma in situ, which was stage 0, thank goodness.

It's been a while since I've looked into various tests, since I've been out of treatment for four years, and I'd like to know which tests to discuss with the counselor. I understand that he may not offer to give me all the tests, and that it's based on family history, patterns and other factors to determine which test, if any, to offer.

I have never been tested for BRCA 1 and 2 and think this would be a definite test to request. I am ER-/Her2+++, so I realize some tests aren't appropriate.

What is PTEN and is this a test that I should ask for? Any others relevant to breast cancer that will make my visit productive and beneficial? I want to do my homework and not miss asking for the best test(s).

Thanks for your input...always appreciated,

Vicki

[StephN]

Hey Vicki - Good to see you here!

Just wanted to mention that Alaska Angel (for one) has been through genetic counseling and you might do a search for her posts on the subject or PM her for more specifics. Also Kimberly Lewis and soccermom.

P.S. I think MicheleU had the Pten test.

[Vic]

Hi Steph,

I really appreciate the names of the women who've had genetic counseling and it sure helps since I haven't been on the site as frequently as many of you in recent times, although I'm a longtime member as you know.

I'll pm my question to those you mentioned, Steph. It's so good to hear from you.

Vicki

[AlaskaAngel]

Hi Vic and StephN,

Your question is interesting! My genetic counseling and testing was done some time ago and so I'm not sure what tests the counselors would deal with now other than just BRCA1 and BRCA2, which is all they dealt with when I was being counseled and tested.

Here are 2 past posts I participated in that give some info about BRCA testing. (The first link no longer connects with anything, unfortunately, but at the time I quoted part of what was in it so at least that is still available for consideration although the connection may have been removed because they have learned otherwise since then.)

http://www.cancerbacup.org.uk/QAs/Tr...s/QAs/83663880

"The current research shows that women with the BRAC1 and BRAC2 mutations are less likely to be HER2 positive than women who have what is known as sporadic breast cancer (breast cancer that is not thought to be caused by a faulty gene). Only about 1 in 50 women with a BRCA gene mutation is likely to have an HER2 positive tumour, whereas between 1 in 3 to 1 in 5 women with sporadic breast cancer will have high HER2 levels. So Herceptin is less likely to be helpful for those women who have a BRCA1 or BRCA2 gene change."


http://her2support.org/vbulletin/showthread.php?t=30903&highlight=brca

Debbie,

Because of my broad family history (including ovarian cancer), when I searched for and found a clinical trial for early detection, as part of that clinical trial I was offered free genetic counseling. Even though the first counselor generally advised me that I should have BRCA testing I wasn't convinced, so I put it off. Three years later I saw an onc who specialized in both bc and genetics, and she too felt I should be tested for BRCA. I raised the same question you did about HER2, since I think it is cheaper to have just one of the 2 tested. Both she and the second genetics counselor she referred me to felt both should be tested, even though it is far less common for HER2s to be BRCA1 positive. The other comment I have to offer here is that I learned that it is possible for a person to be both BRCA1 and BRCA2 positive (although unlikely).

I tested negative, but the results by Myriad state that as newer "BRCA's" are discovered they would notify me of any relevance to me. I would love to hear it if anyone has been tested negative and has ever been contacted by Myriad subsequently about a newer possible positive result... After all, it is a $3,000 test in the US that as I understand it is free (or close to it) in Europe due to differences in the laws here and over there.

AlaskaAngel

P.S. Has anyone here had testing recently who could help answer whether or not genetic counseling currently includes such things as counseling for PTEN, or testing such things as AIB1 level, or testing whether or not one is a tamoxifen metabolizer, etc.?

[Gerri]

Hi Vic,

I was referred for genetic testing but did not have a choice of what tests would be run. I was simply tested for BRCA 1 & 2. I also have a history of melanoma but tested negative for both genes. The paperwork is daunting, and the wait for results is quite long (at least where I had it done), but it is worth knowing whether or not you carry these genes. However, there is so much still to be discovered as far as a "familial" connection. My mother died of bc, her sister developed it post menopause and I have two nephews that had childhood cancer. Seems to me there is some connection - but just what it is we still don't know.

Best of luck.

[AlaskaAngel]

The other reason for those who are considered to be at higher risk for a BRCA mutation to be tested is that IF one happens to have a BRCA mutation they would need to be more cautious about rads exposure:

http://her2support.org/vbulletin/sho...BRCA+radiation

[RobinP]

Hi Vic,

My genetic counseling and testing was done some time ago too in 2004, and at that point I had BRCA1 and BRCA2 done. Today, there may be a few other test around, but I haven't heard that any are available. From everything I understand her2 bc is not STRONGLY associated with BRAC. There are some theories that her2 bc is associated with the faulty x-linked gene, but there are no tests for that, which I am aware of. There are also some indications that her2 is an emergency redox pathway stimulated by mutagens.

Now PTEN is an tumor suppressor gene that actually helps down-regulate the her2 pathway, but it is not the cause of her2 being stimulated to begin with. Having PTEN is a good thing and not having it is an indication that you may not respond to HERCEPTIN as well as others. Herceptin partly works by activating and turning PTEN back on, so PTEN can suppress proliferation events of her2. But if you don't have PTEN to begin with, Herceptin can't turn on the tumor suppressor, PTEN. THat's way its nice to be PTEN positive. Most people today, don't have PTEN tested so see if they will respond to Herceptin. Perhaps, that will be offered in the future routinely. (PS- I know that I am PTEN positive, as I was tested via a private lab with my own funding.-it was very expensive. I did it to see if it was worth taking late Herceptin. I WAS POSITIVE FOR PTEN SO I DID LATE HERCEPTIN AS YOU'LL NOTE BELOW FOR 9 WKS. )

Note that a genetic counselor is not the one to ask for PTEN testing. If you want that, go visit TARGETED MOLECULAR DIAGOSTICS ONLINE AND DR. SARAH BACCUS CAN DO THE TEST.

fOR MORE ON PTEN AND HERCEPTIN RESISTANCE SEE LANI'S LINK:
http://her2support.org/vbulletin/showthread.php?t=36697

[Vic]

Thanks for the excellent PTEN explanation you gave me, Robin, along with the link. I really appreciate the easy-to-understand way you describe this very-scientific world we now live in. If the PTEN is not offered, I'll look into the private lab, although it would be for information only as my treatment was completed in 2004. Interesting, that we both took Herceptin for the shorter duration, mine being 12 weeks with Taxol and Carboplatin. Nice to hear you're doing well following that regimen. I plan to add the Zometa as you are now doing, as my onc. mentioned it on my last visit with her.

Gerri, if there are any new tests for a melanoma and/or bc connection, I'll let you know. So, there's a lot of paperwork with a genetic counseling visit? It's all in the details.

Just wanted to say "thank you" to each of you for your input.

Vicki

[Gerri]

Thanks Vicki, that would be great. Quite honestly, melanoma scares me more than bc. At least with bc you have treatment options - not so much with melanoma that has spread. Scary stuff!

[Vic]

Hi Gerri,

Where was your melanoma located?

Mine was on the right bicep and was melanoma in site and so stage 0. He made a long vertical incision even though it was no bigger than the size of a light tan eraser, but it's healing up really nicely.

Vicki

[Gerri]

Mine was an ugly looking mole just under my right biscep - sounds like almost the identical place as yours. It was about 12 years ago and I believe it was referred to as "Clarks level 3" - I don't recall a "stage" per say. I just tried to locate my paperwork but wasn't successful. I think we caught it just in time, before it spread. My excision was a few inches long (vertical) and it is a bit indented. All in all, it healed nicely, but the scar is definitely still visible. My surgeon at the time also did my lumpectomy (bc is his specialty) just about 3 years ago - the husband of a co-worker and now a friend. I was so lucky to have him both times!

I have had all three types of skin cancer - have you? I live in So Cal too - the sun is not our friend

Gerri

[RobinP]

I'm NOT doing Zometa, nor would I ever do Zometa, unless I had bone mets . You see Zometa has a ten percent chance of causing osteonecrosis of the jaw(Jaw bone rotting and death), which is resistant to treatment.