NBN Genetic Mutation...anyone else?

I seem to have left tiny links all over the post on the other pagein the form of little dashes. Lol I don't know how that happened. Sorry!

Lauren,

Thank you so much for sharing your story with us. It really is difficult to hear from other people with this mutation. This is so helpful and encouraging. We are just doing what we feel is best for us and our own personal situations. I have really bad days (questioning my decisions), and then I have really good days (feeling confident that taking these preventative measures for the sake of my future health, sanity, and family is the right decision). My mother tested positive for this same mutation- all the cancer is on her side of the family- she has already had a few cancer scares... but she doesn't want to take the same route I'm taking. She is going The every-six-months MRI and mammogram route. That is her choice, and while I may feel uneasy about it I have no right to pressure her or make her feel uncomfortable about her decision. We all come from different walks of life, we can have different perspectives of what is best in these situations. And that is ok. I support you all with whatever decisions you make, and I thank you again for sharing your journey with everyone here.

Hi,

Hi,

I too have the NBN allele. I am an MD, and haven't been able to find very much information about this gene and the risks of radiation treatment. The only article I found that looks at This is a study on mice who had one copy of the bad allele, like the rest of us. The mice developed twice as many tumors and more tumors than the Mice who had two functional copies of the allele. If anyone has found additional information please let me know.

I, unfortunately, have very dense breasts And didn't know that mammograms weren't sufficient to detect cancer. So, I ended up with a 2.8 cm cancer and a 1 cm metastasis and my lymph node while doing my annual screening.

Currently, I have a 0.25 mm positive margin at the pectoral muscle. I've gotten second and third opinions. There is debate about re-excision versus radiating the positive margin. And, there is debate about whether I should get radiation to the chest wall and the lymph nodes that were not taken out in my axillary node Dissection.( I had both level one and level two nodes removed.). There is tdebate about whether I should get radiation whether I get a masectomy or not.

I had a lumpectomy because I didn't know about the genetic defect until a day prior to surgery. My plan was to go back and get a Masectomy and avoid radiation therapy.

I am quite concerned that radiation therapy may lead to a second more aggressive breast tumor or sarcoma. The breast oncologist I saw at Stanford, Who was amazing if anyone is thinking about a second opinion there, really listen to what I was saying and mentioned that when they had radiated a few women with another genetic mutation that those women had Showed up a couple years later with nasty sarcomas.

I am fortunate that my oncotype DX came back at 17, low risk , so I think that that will make Stanford Comfortable with a masectomy followed by anti estrogen therapy only.

In the absence of the mutation, I would strongly consider getting radiation therapy. I look forward to hearing from any of you whether you have information or not.

I'm also thinking that the NBN allele is going to turn out to be very common at some populations have frequencies as 1 in 167 People with the mutation. I think we need to band together to get more information out.

Thanks and best to all of you.

PS. Sorry for all the typos I’m dictating since it hasn’t been long since the big lymph node dissection. I was replying to an earlier post and just now saw the more recent post. Sorry for everyone’s different challenges. My thoughts are with you

hi kimberly and all,

hope you can feel healing thoughts coming your way. I concur with your decision to forgo radiation....NBN notorious for radiation triggered cancer... i too am in the health field (academic NP with DrPH)

and after reading posts and posting, i called my sister so that she could get tested and sent her my results (which i hadn't seen in ~3 years).

i couldn't believe it.....the results actually said NEGATIVE for a breast cancer mutation......because so far medical science doesn't know much about this mutation....and have therefore labeled it variant of uncertain significance (VUS). no wonder i was so blase.

anyhow, i started thinking about epidemiology and my family, and figured out that as my mother must have been positive for NBN had breast cancer (br ca) (as I inherited this germline mutation), then her mother who also had br ca was positive, and her two sisters who also had br ca and her son (my uncle) who had prostate cancer probably all had this NBN mutation, means that 5/5 got br/prost ca between 50 and 70.

100% had br ca

CDC says 5.5 percent of 50 -70 get br. ca which means (if i am calculating correctly) odds are 1/20 an individual will get br ca between 50 and 70 years of age.

so multiplying 1/20 X 5 (each of my family members) means that there is a 7.8/million chance that my family's cancer was NOT caused by NBN.

if my calculations are wrong, please let me know,

if not, who can we share our findings with so that others are not misinformed...

blessing, love, and light,

lauren

my specific polymorphism = c.151G>A (p.lle171Val)

My mother had breast cancer. Me, my sister and my niece have the NBN gene. My sister at 49 had breast cancer 17 years ago (double mastectomy), I had a lumpectomy last year at age 71, and my 48 year old niece is getting exams every 6 mos.

Arlene Brown

hi arlene,

wow, thanks for sharing your story.

i will be sending prayers or healing thoughts to your family (which ever you prefer).

neither my 17 yo son or 57 yo sister have been tested....i'm working on it.....

lauren

drlaureno, so happy that you’re on the other side of your surgery! Also glad that things are healing well so far. Hoping the healing process goes quickly for you so that this can become a just a memory in a long healthy life

Cheers

yes NBN causes colon cancer. My grandpa had colon cancer. It also causes breast,melanoma, lymphoma, lung and ovarian cancer.

Hello, I know that this reply is to an older post. But, I wanted you to be aware that there are 2 different kinds of NBN genetic mutations. Based on my genetic testing, I received results and reviewed them with a Yale medical center genetic counselor. The nbn mutation I have is where you receive one mutation from only one of your parents. The other is when you get 2 mutations from both parents. I’m pretty sure this is called nbs Nijmegen Breakage Syndrome, which is far more severe and causes more cancers, including those in children, than nbn from one parent. I just wanted you and others to be aware because I nearly had a nervous breakdown when I read this thread. I went over it with my genetic counselor, that’s why I thought I’d share. The nbn from one parent has a 25% chance of breast cancer and not sure of a recurrence yet because there is not enough data.

Hi everyone, I’m Kylee, 23 years old. This week I got my Myriad results back and tested positive for NBN gene mutation. My mother and aunt are both survivors of cervical/ovarian cancer. No family history of breast cancer that I am aware of. I have dense breasts and unusual pain in my breats. I’m kind of at a loss of where to go from here. My OB mentioned that many women with this same gene mutation have BMX. But my question is, am I too young to even be considering this type of major surgery? I do not have children yet and don’t want to short myself from the experience of breast feeding and such. However, I also don’t want to put myself in a situation where I’m older and wish I would have taken more “extreme” preventable measures. I meet with my genetic counselor this coming week. I’m hoping this appointment may give me some clarity. Any thoughts or advice is greatly appreciated!

Hi!

I know this is an older thread, but wanted to add my information because it is so difficult to find information on this gene. I did genetic testing 6 years ago due to family history. It came back positive for NBN with recommendation to have mammogram/MRI every 6 months. I only did one MRI and then the OB practice I was going to closed down and the new one kept telling me that NBN was of indeterminate importance. So I did my annual mammograms and ultrasounds (dense tissue) and ended up with bilateral breast cancer, spread to lymph nodes on one side and a total of 4 tumors, most of them only visible on the pre-op MRI.

I’m not sure if the NBN mutation caused this, or if the dense tissue hid the tumors too well, or a combination of both factors. Either way, sticking to the yearly MRI plan would have most likely been helpful in my case. I naively thought I was good because I was getting ultrasounds. If you are reading this and have an NBN mutation please follow the recommended guidelines no matter what your OB thinks he/she knows about it

I have no idea if you're still out there. I found out recently it's no longer a risk. You can google the info below.

CHANGE IN STATUS FOR THE NBN GENE. IT IS NO LONGER CONSIDERED TO HAVE A BREAST CANCER RISK. by Kim Rainey, MS, MEd, LCGC, Genetic Counselor

New England Journal of Medicine (N Engl J Med 2021; 384:440- 51)