Topic: Risk Assessment Appointment to discuss results

Jul 16, 2020 07:49AM - edited Jul 16, 2020 07:51AM by MelissaDallas

Maverick, based on my experience, there are far too many variables to formulate specific questions. IF you have any significant mutations, etc. questions would be very specific to that particular gene. I think, just listen. The geneticists tend to be very good at explaining in detail and any specific recommended monitoring schedules or testing (colonoscopies, skin checks...)

Just plan on asking best way to contact for follow up questions when you have had time to digest any information. I think it is pretty much built into the system that you will be contacted in the future should information on any VUSs change as time goes on.

Jul 16, 2020 10:36AM - edited Jul 16, 2020 10:37AM by Moderators

Hi Mavericksmom,

You may find these pages helpful from the main Breastcancer.org site:

• 12 Questions to Ask Your Genetic Counselor
• Genetic Counseling: How to Prepare and What to Expect
• There are also pages in the Genetic Testing section that cover What to Do if Your Genetic Test Results are Positive, What to Do if Your Genetic Test Results are Negative, and What to Do if Your Genetic Test Results are Uncertain, among other results you may receive (such as Variants of Unknown Significance).

We hope this helps! Please keep us posted with what you learn!

Jul 17, 2020 07:46AM - edited Jul 18, 2020 02:45AM by Mavericksmom

Yes, thank you Moderators!

Mangosan99, sounds like we are going through the same thing. I will receive my results at an appointment this afternoon. I will post again after I have time to process whatever I am told. Please let me know how your results turn out! I am so glad this topic/ Moderators, helped more than just me!

Update: 54 genes tested, all negative. No answers as to why my sisters, mother and I had breast cancer, but it isn't genetic. The only positive is that I know I didn't pass anything on to my children, and really that is all I expected to learn anyway.

In hindsight, I would have stopped after having the tests for the BRCA genes and saved a lot of money. I am no better or worse off because of the testing.

I would NOT recommend genetic testing for others with the exception of really young, 20/30 yr old women with a breast cancer diagnosis, to rule out the BRCA gene defects. Anything more is a waste of time and money, which is the likely reason insurance won't pay for it. I am thankful for a negative result because it reinforced my decision to stop taking Letrozole. I highly doubt I will ever get a positive diagnosis for breast cancer again. I am far more concerned with surviving the Covid pandemic!

I wish the counselor had just called me with the result instead of making me drive an hour for a negative result. That was really stupid, especially during a pandemic! Oh well, live and learn!

They told me my daughter could be put in their "high risk" program, and while that is nice of them, it is impractical. She isn't high risk if the family breast cancer is not genetic. All that would do is add stress to her already stressful life of being a working mother! Her gynecologist is more than capable of keeping her informed on what tests she should have to stay healthy. I don't consider myself high risk, I consider myself unlucky!

Jul 18, 2020 09:49AM - edited Jul 18, 2020 09:49AM by exbrnxgrl

Mavericksmom,

I had the BRCA test when first diagnosed (the only genetic test at the time) and then the Ambry panel about five years after that. All were negative but... the tests are only for known genes which might put one at risk. I too have some family history so when more genes are discovered, I will test again. My insurance completely covered the cost of testing* and though everything has been negative so far, that may not be the case in the future.

* My ethnic group has a higher risk for BRCA than the general population. I don't know if this factored into insurance covering the testing costs

Jul 18, 2020 11:43AM MinusTwo wrote:

Mavrick - I finished treatment before genetic testing was widely available. And I was ER/PR negative. But from what I've read here, I think that the testing sometimes helps the docs determine whether to do chemo or not. If so, that's really useful. And I expect there are other new things discovered every day.

Jul 18, 2020 01:41PM exbrnxgrl wrote:

Salamandra, you hit the nail on the head! I always go back to the fact that when I was first dx’ed they could only test for BRCA mutations, as those were the only ones known as the time. Look how many more mutations have been discovered since then.

Jul 18, 2020 02:45PM AliceBastable wrote:

My mom and a paternal aunt had breast cancer. I've had breast cancer. My maternal grandmother had uterine cancer. I've had endometrial/uterine cancer. My dad had kidney cancer. I've had kidney cancer. My dad and paternal grandmother had basal cell skin cancer. I've had several basal cell skin cancers.

My BS sent me to a genetic counselor for testing, which came back negative, BUT my insurance did not pay for comprehensive testing, so I have no idea if there might be some lesser-known mutation it didn't catch. I'm not sure I care. My BS seemed more interested in why I'm a crap magnet than I am. If/when another cancer shows up, I'm more concerned with getting rid of it than figuring out how it got there. If I have any body parts left when I die, I'll leave my remaining remains to a lab to figure out.

Sep 21, 2020 12:01PM - edited Sep 21, 2020 12:24PM by Beesie

Onthinice, you are correct about the choice of options, but I don't think you have a full or accurate understanding of each of the options. Or maybe you are in a place where you've just chosen to focus on the negative aspects.

"You wait and watch to be diagnosed, hoping its early, take a drug that has horrendous side effects that lowers your risk somewhat and doesn't provide protection for all types of breast cancer, and if you are diagnosed that "Golden standard" medication used to prevent recurrence no longer works for ER positive breast cancers(the most common type), or ask for prophylactic mastectomy that has a 90-98 percent chance of seeing you never experience this monster, BUT insurance will only cover this if you are extreme high risk, with many biopsies have positive genetic testing and are young enough for it to be cost effective for the insurance provider. Well, most older women get diagnosed, having a genetic predisposition is low, and many times its to late when you need a biopsy!"

"hoping its early" Well, 60% of invasive breast cancer diagnoses are localized, i.e. in the breast only with no lymph node involvement. If you add in DCIS, which is a pre-invasive diagnosis, it's more like 80%. That doesn't guarantee survival, of course, but the majority of early stage patients are successfully treated. With high risk screening, it is realistic to hope that a breast cancer diagnosis will be caught early. But again, no guarantee of course.

"a drug that has horrendous side effects" Some people do experience horrendous side effects. But many patients take Tamoxifen or AIs for 5 or 10 years with just a few side effects that are very manageable. Until someone is on these meds, they won't know how well they tolerate them.

"that lowers your risk somewhat" I don't consider a 50%+ reduction in breast cancer risk for high risk patients to be "somewhat".

"if you are diagnosed that "Golden standard" medication used to prevent recurrence no longer works for ER positive breast cancers". No. If you are diagnosed, it does not mean that Tamox. or an AI won't work to reduce the risk of a localized or metastatic cancer. And if you were on one of the meds before, you can always try another.

"insurance will only cover this if you are extreme high risk, with many biopsies have positive genetic testing and are young enough for it to be cost effective for the insurance provider." I'm sure there are cases, but I've been here a long time and I don't think I've ever seen insurance deny coverage for a PBMX for anyone who has tested positive for a genetic mutation, of any age and regardless of the number of biopsies they've had. I have also seen insurance companies often approve PBMXs for women with no genetic mutation but with a known high risk factor or sometimes even with just family history. I've seen more doctors balk at doing a PBMX for patients without an extensive history than I've seen insurance companies deny coverage. Not that I'm a fan of insurance companies - this board is littered with insurance refusal stories. But I've been surprised by the fact that PBMXs are usually approved even when the patient's doctors themselves are questioning the need.

"Well, most older women get diagnosed, having a genetic predisposition is low" Yes, breast cancer is more often diagnosed in women who are in their 60s and 70s. This is true of most diseases and is the result of the natural failure of our genes as humans get older. Only approx. 10%-15% of breast cancer is caused by a genetic mutation, and usually, but not always, these cancers are diagnosed at a younger age. That's because these individuals started life with 1/2 of the normal failure of one particular gene already done (i.e. the failed gene was inherited from one parent).

"many times its to late when you need a biopsy!" No. Only 5%-6% of breast cancer diagnoses are Stage IV de novo, i.e. metastatic at time of diagnosis.

What to ask at your appointment? Have you already had genetic testing done, and is this an appointment to discuss the results? Or is this an appointment to decide if you will proceed with genetic testing? If it's the latter, I've found the genetic counsellors are usually very good at explaining the pros and cons of testing, and what the results might mean, whether positive for a genetic mutation or not. One important question would be about the choice of the panel, i.e. the number of genes you would be tested for, and which ones. This will be influenced by family health history. These days most people get more than just BRCA testing.

Sep 22, 2020 11:48AM MinusTwo wrote:

Thin - everyone's experience is different - but what you're seeing in all the threads could be useful - once you determine what you are facing. But don't try to put the cart before the horse. Many if not most of us have (had) dense breasts. I understand you have fears, but to date you have no reason to believe you have breast cancer. You are looking at preventative measures, which may or may not make any difference in the long run. And as you discovered - Dr. Google often causes more fear and harm than not. It's good that you're going to a counselor for anxiety. That should help.

We'll be thinking about you as you do your risk assessment next week. Please do come back & let us know the results. But until you have a specific breast cancer diagnosis, it's hard to answer questions that might not even be relevant.

Sep 22, 2020 12:51PM Beesie wrote:

"What you are doing right now is planning for recovery from a serious car accident when you haven't even gotten your learner's permit."

Oh, that's perfect! It describes so many posts that we see here every day. Can I steal it?

By the way, Onthinice has moved her discussion here:

https://community.breastcancer.org/forum/47/topics/877679?page=1#post_5592721

Sep 22, 2020 05:56PM AliceBastable wrote:

Steal away! I always do my best explaining through analogies. 😀