Genetic Testing --Please help me think about it

I am glad that you are seeing a genetic counselor. He/she will be the best person to discuss the pros and cons of testing, so write down any questions you may have. I had genetic testing for BRCA 1 & 2 over eight years ago and had the more extensive Ambry panel over a year ago. All tests were negative but since I have daughters and granddaughters I wanted to know if there was a mutation.

As far as being afraid of what the test may reveal, in terms of medical recommendations, if you are positive for any mutations you can then decide whether to go with what is recommended or not. Wishing you the best

After years of my PCP downplaying my family history I was surprised when first my MO and then my BS raised the issue and strongly recommended testing. My BS had to go to the mat with my genetic counselor to get her to order the extended panel testing rather than just BRCA 1/2 - and thank goodness she did.

I've found the information from testing very helpful (as well as extremely interesting). I've never been pushed to do anything against my will. Rather, I have the information I need to look after my own well-being.

I don't have children but do have siblings as well as a large extended family and it's been helpful to them to know of the need to be tested.

My advice is not to freak out over testing, not to plunge into it (or any other treatments) and to consider carefully how you discuss it with other, particularly children. If you have a good genetic counselor s/he can provide guidance and insight.

Nobody mentioned genetic testing to me until after I was through treatment (this second time around). I was firm in my decision to go with lumpectomy both times, do not have a strong family history of cancer, and figured why bother? The reason my RO gave me was that I'd be followed more closely going forward if it turned out I had a genetic mutation. I was all over that. Rather than annual mammo, I would have alternated every six months with an MRI. It all turned out negative, but that's another thing to consider.

My family got involved in genetic testing after my niece was recommended to test b/c of all the bc on her dads side. She was positive for BRCA1 and had prophylactic BMX and oopherectomy. My sister and I dismissed testing b/c there is no history of bc in our family. But when nieces surgeon told us we needed to test we took it more seriously. We are both positive for BRCA1 as is our brother. He tested bc he has daughters ( one tested neg other has not tested) and low and behold he has an esophageal cancer that is thought to be associated w BRCA1 and is currently being treated with Keytruda. My sister and I both had prophylactic oopherectomy earlier this year and were doing close monitoring of breast health. My very first MRI revealed suspicious spots in both breasts- biopsy- left Fibroademona and right micropapillary bc. They never showed up on mammogram. I had BMX in Aug b/c BRCA1 puts recurrence risk @ 85% for both breasts. Sister is having prophylactic BMX in 2 weeks. I will be eternally grateful that I tested as my tumor was caught early, only 7mm. Who knows how long it would have taken to show up on mammogram. My only regret is not pursuing prophylactic BMX. Of course, I only tested a yr ago, so my tumor may have already been there.

If you are found to have a genetic mutation, it might not be BRCA and it might not increase the risk of ovarian cancer. With breast cancer, melanoma, and thyroid cancer, one possibility is Cowden's syndrome. When I had a 23 gene panel done, Cowden's was the one that my genetic counsellor thought was most likely for me. Turns out I was negative on all 23 genes.

As exbrnxgrl said, the testing gives you information and then, if positive, the counsellor and your doctors will present you with options. There may be surgical or treatment options, and there will be screening/monitoring options. What you choose to do is entirely up to you.

Yes, a sister testing negative does not mean your friend is in the clear.

Your genetic counselor should suggest having all the insurance you will ever want in place before getting results. While our health policies are protected from discrimination via the federal GINA legislation, life/long term care and others are not. You may still be able to get coverage however it might cost more!

Also keep in mind that you could get a report listing a variation of unknown significance. As more information becomes available, that status will hopefully be clarified so whether it is pathogenic or not can be decided...

Hopeful82014 is spot on. If one parent carries a pathogenic gene mutation, EACH of the offspring has a 50 - 50 chance of inheriting the mutation. If an offspring DOES NOT inherit the mutation, they CANNOT pass it on to their offspring. One must have the mutation in order to have a chance to pass it on. And, if one does have a pathogenic mutation it does not mean that person will ever develop cancer. However it gives that person the opportunity to have additional surveillance, and also education and sometimes options for risk reducing procedures. I personally would rather know than not know. I feel it gives me better tools for decision making specific to my risks.

I'm another multi-cancer crap magnet. When I had a follow-up appointment with my BS in January, she suggested genetic testing and set up the appointment. My Dad had kidney and skin cancers (check, check), his sister had breast cancer, as did my mother (check), and my maternal grandmother had endometrial/uterine cancer (check). I was pretty curious, so I had the test, but due to insurance limitations, it wasn't as thorough as I would have preferred. No connections were found on the testing that was done. For me, it was vaguely interesting but rather pointless.

momand2kids - genetic testing is helpful for your children - I had BRCA testing at time of diagnosis in 2006 and a few years ago had the 32 panel test....

I was nervous when my onco recommended it. My sister had breast cancer. No other history in the family. Back when she had bc she had to fight just to get tested for BRCA.(which was neg) Fast forward to me 8 years later I had the panel of 62 (I believe maybe 68?) for the sake of my kids. They then could at least be more vigilant. Nothing came back, but as we know it picks who it wants to afflict.

Knowledge is always good. It doesn't coerce you into a decision, but gives you the information you need to make the best decision.

It was recommended to me by my breast surgeon to have Genetic testing done since I had ILC, then a melanoma and I have an underactive thyroid. I also just had a basal cell on my face which is where my melanoma was. She sent it to the Invitae36 Gene Panel for testing. The test came back saying this:

one gene was reported to have a variant of uncertain significance (VUS). The MUTYH gene had a c.576+3A>G (Intronic)variant. The available information suggest it might be benign but this has not been confirmed. Test results were inconclusive for the MUTYH gene. It could be a normal gene found in my family or it could be associated with an increased risk for cancer. We will not be able to obtain any further information on this variant until Invitae has enough data that leads them to reclassify the VUS. I must keep them updated on my current address and phone number.

Does anyone understand this. Should I be worried?