Is it time for me to gene test again??

Jons_girl,

Several companies do genetic testing. Because of my ethnicity and family history I am tested every time a new mutation is found. So far, everything has been negative. I am a fan of genetic counseling not just because of explaining currently available testing but also it gave me a much more complete picture of what genetics can and cannot reveal and what the implications might be in the future. It was also required that I take a short online genetics class and meet with the counselor in person, twice. My last test was the Ambry panel which tested for 30 some odd mutations.

There is nothing wrong with wanting to see a real cancer genetics specialist. The nearest major cancer center should be able to help you.

Most of the major testers contact you if there is any new information on things you have been previously tested for. Most importantly if new information is confirming that previously tested variations of unknown significznce are now showing to be problems.

ShetlandPony said:

"As I understand it, two reasons to ask about retesting every so often are these:

"First, more information may become available regarding what was a variant of unknown/uncertain significance. It may have been shown to be deleterious or benign.

"Second, new genes may be added to a panel, as in the case Jons_girl mentions. Or they ought to be added to the panel, but must be done as custom add-on (see below)."

I think there is another reason to be re-tested or not. Would testing have any impact on how you are treated, or how any close relative is treated? If not, there is probably no reason to be re-tested, IMO.

Shetland, I have a VUS in MLH3. MLH3 has a weaker link to Lynch Syndrome that MLH1 but there may be a connection. And of course since I have a VUS, it means that this mutation may or may not have any significance. So I'm two steps removed from Lynch Syndrome, but more information about MLH3 might change that.

MountainMia, to your question, "Would testing have any impact on how you are treated, or how any close relative is treated? If not, there is probably no reason to be re-tested, IMO." I think the answer is always "Yes", should the individuals choose to do something with the information about mutations found in the family. It may not be specific to breast cancer but could be related to another type of cancer or another illness. But it's a question of whether or not someone wants to know and then, whether or not they want to take action through increased screenings or by taking preventative action. That's the catch. A lot of people don't want to know and/or don't want to do anything extra. Sometimes ignorance is bliss; it depends on the individual. Genetic testing certainly can open a can of worms.

For example, I was initially tested only for BRCA mutations. Then I had a full panel, which at the time was about 20 genes. Then I participated in a clinical trial where I was tested for 151 cancer genes. I found out about my VUS, and one additional positive mutation, through this 3rd round of testing. At this point there isn't enough known about the VUS to change anything, particularly since the MLH3 gene is only weakly linked to Lynch Syndrome. But should more information on this come out, that could mean a different schedule of screenings for various cancers, and genetic testing would be recommended for family members to ensure that if they too have the mutation, they get proper screenings. My one positive mutation is an interesting one in that although it is a cancer mutation, it isn't connected to any cancers in the family (and there are a lot of cancers in my family). But there are other conditions that this mutation can drive (although rarely), and the discovery that I have this mutation may have solved a mystery about a serious health condition of one of my siblings, who is now being tested for this mutation. This could have significant implications for others in the family, in terms things to look out for with standard blood work screenings and possible (and fortunately quite easy) preventative actions. With this mutation, because the incidence of this illness is rare, the genetic counselors and doctors are as interested in us (myself and my sibling) as we are interested in finding out more about the mutation and our possible risks. So while this is all more than a bit disconcerting, I feel that I am doing something to advance knowledge and maybe help others who have this same mutation. But I can easily see why a lot of people would prefer to not get caught up in this uncertainty.

MountainMia, of course the reason you give — in case the results would influence treatment — is one of the main reasons to get tested in the first place. That along with helping yourself and family members plan for appropriate screening and prevention. The reasons to get re-tested have to do with new information and updates to the testing. A new cancer might mean looking at additional genes than before, as edj3 did.

Finding a VUS has got to be difficult, which is one reason genetic counselors should be involved. At the very least it can help advance the science. Maybe some day, with more data, TravelText's son will qualify for the same extra screening his daughter qualifies for, being female. His mom had bc, he had bc and prostate cancer, and yet so far the BRCA mutation identified is considered a VUS. Beesie, I suppose you know about this site:

https://www.mycancergenome.org/content/gene/mlh3/

Do I understand correctly that it may help your family members to prevent a problem to know if they have that other gene mutation? Will it help your symptomatic sibling to know?

Some people only want to know about mutations that they can do something about. For example, if you know you have a Lynch mutation, you can do early and frequent colonoscopies and actually prevent colon cancer by removing any polyps, or have hysterectomy because of the high risk of endometrial cancer with certain Lynch mutations. And everyone knows about prophylactic surgery where there is a deleterious BRCA mutation. I asked a relative, "If I ever found out about a genetic mutation, would you want to know?" When the answers was yes, I told what had been found, and they got tested, consulted with genetics experts, and chose to take strong steps. They are not going to end up like me if we can help it! On the other hand, another relative who is older felt strongly that they did not want to have the full panel and possibly find out any more bad news, and declines colonoscopies for the known mutation. If I had been tested for more than just BRCA in 2012, and found out I have an increased risk of ovarian cancer from that Lynch mutation, it would have been the last straw to make me elect oophorectomy as part of my breast cancer treatment, and maybe I would not be in the position I am today with metastatic bc. (For several reasons I thought I was at higher risk than the oncologists did.)