Topic: NBN mutation no longer a BC risk. WHAT?!

Forum: Genetic Testing — ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Posted on: Feb 1, 2022 05:03PM

Posted on: Feb 1, 2022 05:03PM

kam197 wrote:

First my diagnosis was relatively botched. One doctor said HER2+, another triple negative. No consensus.

Decision made to do chemo first then reassess to see if lumpectomy appropriate. During chemo I had genetic testing reveal NBN mutation which gave me up to a 30% higher risk of BC. Because of that risk assessment, I decided to do dmx with reconstruction. Long story but because of a poor plastic surgeon, it was an excruciatingly painful experience.

Yesterday I got a letter stating that they now find the NBN mutation to be of no clinical significance regarding breast cancer.

I'm now thinking lawsuit.

Kira A. Moore
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Feb 2, 2022 01:25AM minustwo wrote:

Cam - Sorry you're not please with the results. I'd probably be heading for a consult with another plastic surgeon.

Generally I'm not litigious. The more time goes on, the more things doctors discover. If you're suing because there's now a new finding about your diagnosis that wasn't available at the time - doesn't make sense to me.

2/15/11 BMX-DCIS 2SNB clear-TEs; 9/15/11-410gummies; 3/20/13 recurrance-5.5cm,mets to lymphs, Stage IIIB IDC ER/PRneg,HER2+; TCH/Perjeta/Neulasta x6; ALND 9/24/13 1/18 nodes 4.5cm; AC chemo 10/30/13 x3; herceptin again; Rads Feb2014
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Feb 2, 2022 11:50AM kam197 wrote:

I wasn't really clear.

What I'm most upset about is the original report I received regarding the NBN mutation. Nowhere in it does it say this finding (that the mutation causes up to a 30% increased for BC) could change with further research.

I was only considering lumpectomy but I decided to go dmx because of this report.

So I may have gone through the dmx for nothing.

I think the lab should have been clear regarding NBN findings.

Kira A. Moore
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Feb 2, 2022 12:46PM parakeetsrule wrote:

Almost everything in medicine can change based on future research. We all, doctors and patients alike, just have to make the best choice with the best information we currently have.

It definitely sucks to have made a huge medical decision based on what turned out to be inaccurate information. I'm sorry. :(
Stage 2 at 37, Stage 4 at 41. Cancer is dumb. Cookies are good. Dx 3/21/2017, IDC, Left, Grade 2, ER+/PR-, HER2- Chemotherapy 5/15/2017 AC + T (Taxol) Hormonal Therapy 12/8/2021 Faslodex (fulvestrant) Targeted Therapy 12/13/2021 Piqray (alpelisib) Dx IDC, Other, Stage IV, ER+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery Lymph node removal (Left); Mastectomy (Left) Radiation Therapy Whole breast: Lymph nodes, Chest wall
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Feb 2, 2022 05:27PM hapa wrote:

Unless there was gross negligence or falsified data, I don't think a lawsuit will get you anywhere.

Dx 3/20/2018, IDC, Right, 3cm, Stage IIIA, 3/18 nodes, ER+/PR+, HER2- Targeted Therapy 3/28/2018 Herceptin (trastuzumab) Targeted Therapy 3/28/2018 Perjeta (pertuzumab) Chemotherapy 3/28/2018 Carboplatin (Paraplatin), Taxotere (docetaxel) Surgery 8/22/2018 Lymph node removal; Lymph node removal (Right): Underarm/Axillary; Mastectomy; Mastectomy (Right); Prophylactic mastectomy; Prophylactic mastectomy (Left); Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Radiation Therapy 10/22/2018 Whole breast: Lymph nodes, Chest wall Hormonal Therapy 12/21/2018 Arimidex (anastrozole), Zoladex (goserelin) Targeted Therapy Nerlynx
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Feb 2, 2022 06:57PM beesie.is.out-of-office wrote:

kam, I'm so sorry that you've had such difficulty with your surgery and now believe, based on new information about the NBN mutation, that the surgery was unnecessary.

As others have mentioned, genetic mutation information is always subject to change, as more people are tested and more information comes in. While it is unusual for positive mutations to be reclassified, it can happen, particularly for lower risk mutations, which is how a mutation that confers 30% increase in risk would be classified.

Was it strongly recommended to you by a genetic counsellor or was it written on the lab report that you should consider/have a BMX? I don't know that you would have a successful lawsuit, but the 'official' recommendation for those with the NBN mutation, even when it was thought to increase risk by 30% (taking 'average' risk of 12.4% up to 16.1% for those with this mutation) was enhanced screening. If the recommendation you received was different from this - if it was suggested to you in writing that you should consider or have a BMX - you might have something there.

Here is the full NEJM article that references this change in the NBN gene:

A Population-Based Study of Genes Previously Implicated in Breast Cancer https://www.nejm.org/doi/full/10.1056/nejmoa2005936


Following is their conclusion on how this change affects patients: "In particular, the finding that the NBNc.657_661del5 Slavic founder mutation was not associated with an increased risk of breast cancer suggests that the recommendation by management guidelines to increase screening among women with NBN pathogenic variants may need to be reevaluated."


And here are the NCCN Guidelines on the NBN gene, from prior to this change:




Have you resolved your issues with your reconstruction, either through the first plastic surgeon or with a different plastic surgeon? You can't change the fact that you had the BMX, but I hope that you can get to the point of being satisfied with the reconstruction. And not that this will necessarily make you feel any better, but even without considering the NBN gene, the fact that you've had breast cancer one time means that your risk to be diagnosed again, with a new primary breast cancer, is about double that of the average woman. This is true for all of us who've been diagnosed. For many women, that is reason enough to have a BMX. I didn't - I had a single mastectomy at the time of my first diagnosis - and I was diagnosed again, and I don't have any position genetic mutations that increase breast cancer risk.


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Feb 2, 2022 09:56PM kam197 wrote:

Bessie,

I hear what you're saying, except even in the NCCN Guidelines you posted, it reads that there's insufficient evidence for risk reduction surgery based on the NBN gene mutation ALONE.

I already had cancer! It wasn't like I did this testing and decided to go and get a dmx.

Again, my problem is that NO ONE told me, not the genetic counselor, nor was it stated in the genetic lab report that this could change! I don't think people with the braca gene would expect or be thrilled to find out "oh sorry, we were wrong."

If I had been warned that further research was being done on the NBN and that the findings could change, at least I would have had all the information. If I had still decided to do the dmx, and then got this info, at least I wouldn't now feel utterly blindsided.

We'll never know if the cancer would have come back, but tests revealed that it was indeed gone after my chemo. If they weren't sure about the NBN, I could have kept my breasts and kept an eye on things with mammos, MRI's, etc.

I'm angry with the lab as well as my the genetic counselor.

Kira A. Moore
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Feb 2, 2022 10:04PM wrenn wrote:

It sounds like you have made up your mind and that the many responses given here haven't made a difference.


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Feb 2, 2022 10:11PM parakeetsrule wrote:

There is no test that can prove breast cancer is gone. They can only say they see no evidence of it. Like Beesie said, even without genetic concerns, getting a DMX reduces your risk of it coming back. I know it feels like you were misled but the DMX wasn't for nothing. Even if you had kept your breasts there's no guarantee that extra monitoring would have saved you from a recurrence that leaves the breast before it's discovered.
Stage 2 at 37, Stage 4 at 41. Cancer is dumb. Cookies are good. Dx 3/21/2017, IDC, Left, Grade 2, ER+/PR-, HER2- Chemotherapy 5/15/2017 AC + T (Taxol) Hormonal Therapy 12/8/2021 Faslodex (fulvestrant) Targeted Therapy 12/13/2021 Piqray (alpelisib) Dx IDC, Other, Stage IV, ER+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery Lymph node removal (Left); Mastectomy (Left) Radiation Therapy Whole breast: Lymph nodes, Chest wall
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Feb 2, 2022 11:10PM - edited Feb 2, 2022 11:19PM by beesie.is.out-of-office

kam, yes, you already had cancer. With what you knew at the time of your diagnosis, maybe the NBN mutation caused that, or maybe it didn't. You had to treat that cancer, but the decision to have a BMX wasn't related to the cancer you already had (as you said, a lumpectomy would have sufficed), but was based on your risk level to develop a second breast cancer. The contralateral mastectomy was a prophylactic risk reducing surgery. What the guidelines say is that based on the NBN mutation alone (back when it was thought to increase risk by 30%), there was insufficient evidence to recommend risk-reduction surgery, which is what your BMX was. Of course there are many other reasons to have a BMX; just having the diagnosis of breast cancer, and the associated higher future risk, is one reason. So I am not at all questioning your decision but am explaining how this would be looked at if you were to pursue a lawsuit. Unless the genetic counsellor or the lab clearly and directly told you to have a BMX because of this mutation alone, your decision to have the BMX will considered to be personal choice based on a variety of factors.

What did your genetic counsellor tell you about this gene and the relative breast cancer risk? What did he or she recommend? My counsellor clearly told me that the data on genetic mutations changes all the time, and when I tested negative, she encouraged me to come back again in 5 years to be tested again. The information changes all the time for all genes; it's not that further research was being done specifically on the NBN gene, it's that research is being done constantly on all genetic mutations. This is a very new area of science.

And yes, this does happen with BRCA genes. I read an article a few months ago about a large family of women who all thought that they were BRCA positive, and many had PBMX surgeries, but the particular mutation that runs in that family was reclassified as being negative. Similarly, last month I read that Chris Evert was diagnosed with ovarian cancer. The cancer was found when she was having what she thought was prophylactic surgery to remove her ovaries and fallopian tubes. Her sister had died from ovarian cancer a number of years ago and at the time of her diagnosis, had tested negative for all known BRCA mutations, although she did have a BRCA mutation that was thought to not be cancer causing. It turns out that 5 years later, this mutation was reclassified as being BRCA+. That prompted Chris to have BRCA testing and she found that she carries the same gene. She therefore decided to have the prophylactic surgery (which turned out not to be prophylactic).

It's awful to be surprised by something like this, but it's an evolving area of science where things really do change every day.

Edited to add: Just to clarify an earlier point, for all of us, having been diagnosed with breast cancer before, our risk to be diagnosed again is approximately double the risk of someone who has never had breast cancer before. Double the risk is a 100% increase - much more than the risk increase that had been associated with the NBN gene. So if the 30% risk increase drove you to have the BMX, you should be glad about that, knowing that your risk was in fact higher than you thought.


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Feb 3, 2022 03:10PM muska wrote:

Kam, I am not sure what state you are in but in Massachusetts where I live there are rather strict requirements that must be met before a medical malpractice lawyer would even consider taking your case. The first question is, was the standard of care followed when you were treated? Looks like it was followed as the new information you now have was not yet available when you were treated. I also doubt you were forced to have a mastectomy, probably advised to consider it. The conversation would probably stop right there.

But I do think it would help if you talked to a lawyer - that would be a somewhat different perspective.

Best

Dx at 54 Dx 5/9/2013, DCIS/IDC, Right, <1cm, Stage IIIA, Grade 3, 7/11 nodes, ER+/PR+, HER2- Dx 6/13/2013, LCIS, Both breasts Surgery 6/13/2013 Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Tissue Expander; Reconstruction (Right): Tissue Expander Chemotherapy 7/25/2013 AC + T (Taxol) Surgery 2/20/2014 Reconstruction (Left); Reconstruction (Right) Hormonal Therapy 3/12/2014 Arimidex (anastrozole) Radiation Therapy 3/23/2014 Breast, Lymph nodes Local Metastases 3/23/2014 Radiation therapy: Bone

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