NBN Genetic Mutation...anyone else?
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my maternal grandmotherr's entire side of the family has had breast or prostate cancer, i got tested for BRCA when my son was 6 2007--and although it was NEG, i was absolutely sure if POS for BRCA would have a BMX (wanted to be around for my son)
switched insurance in 2014 and got tested for more mutations and the test came back POS for NBN. At that point, partially because the genetics counselor said, "we don't know very much about your polymorphism but because no one in your family has had any of the other cancers, it's probably not the cause of your family's cancers"...???
at first that made sense to me, and i decided to just continue biannual testing---had terrible reaction to the contrast agent gadolinium (after my 9th), so couldn't do biannual testing, had questionable results with MRI and mammogram....plus the NBN mutation like others have mentioned makes one particularly sensitive to radiation induced cancer. so, last year i finally decided to have a bilateral mastectomy.
even though i cannot say with great accuracy what my risk of getting breast cancer is, it most likely is greater than 1 in 2, and because i wouldn't get into a plane that had a 1 in 2 chance of crashing, i am going to take preventive measures.
i will have a BMX in 2 weeks with (hopefully) immediate reconstruction (from a D to a B if i have good enough pectoral muscles, which i should since i boogie board
after reading all your amazing stories, i am now 98% sure this is the right decision. prior to today, i was only....~63 - 81% sure.
thanks to all of you for your courageous stories that have given me peace of mind.
lauren
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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.
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Oh, and Lauren- wishing you all the luck in the world, prayers, and hugs for your upcoming surgery! Be sure to check out the current surgery threads on this site to help you through your anxieties, and to help push you throughyour recovery. Blessings!
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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
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thanks truffleshuffle---hadn't thought about the surgery forum
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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)
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Lauren
Thanks so much for your post. I have the NBN “founder mutation “ I think it’s a deletion at one dna base.
Thanks for the radiation information.
It’s still up in the air about what to do. I’ll let you lil know once I’ve got my second and third opinions.
Thanks again. My thoughts are with you
Kim
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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
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Arlene, thank you so much for sharing your information with us. I’m sorry that your family has had the misfortune of experiencing cancer, and this genetic mutation. Sharing information with others going through this is so helpful.
Thank you
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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
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hi folks,
so it is now post op day 8 of my BMX.....except for muscle pain (excruciating on post op day 6 & 7) , and a rash, i have been very fortunate, no regrets! but i am looking forward to feeling better.
weirdly, i felt better post op day 5 ?? go figure.
warmly,
lauren
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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
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thanks truffleshuffle
very warmly received.0 -
yes NBN causes colon cancer. My grandpa had colon cancer. It also causes breast,melanoma, lymphoma, lung and ovarian cancer.
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I can confirm that NBN causes Lymphoma. My son had it.
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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.
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by the way, thank you stevieandjazzy1 for chiming in!
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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!
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Hi, I had a double mastectonmy three weeks ago for two grade 3 Breast cancers, small but very aggressive in their nature. My Onco Dr is not recommending that I not do chemo because my oncotype came back at a 23, mostly we are thinking because the tumors were small. However, I did test for a variant of unknown significance of NBN. I am just wondering if this is possibly why my cancer was so aggressive. I read that part of the NBN genes job is creating Nibrium which is actually a gene supressor. I am just wondering if this is a basic component to the gene that is true for all variants of the gene. There is just so little information out there on this. My surgeon ordered my gene test and didn't seem to really look into this gene issue because he was really just looking for the BRAC Gene. I would loved more inside into this gene. I do have an appointment with a genetic counselor on Thursday and if I get information that might be helpful to others I will be certain to share that. My variant was at NBN c.456G>A (p.Met152Ile). Please feel free to share any information!
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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
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Hi - This mutation showed up on my pathology report from a liver biopsy. I have no idea what it means. I had a BRCA test when I was first diagnosed in 2014, and I don't recall this showing up on that test. So it might just be a tumor-specific mutation for me. I'm trying to find the report from my 2014 blood test to compare it with the recent pathology. I have nothing to add, unfortunately, but I'll follow this thread in case more information comes along.
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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)
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This is the most useful thread I have found on NBN mutations! Thank you for sharing. There is little scientific knowledge on the effects of this gene, so story sharing is a more useful source of info than reading the few low quality research studies on the subject (and don’t believe the probabilities they cite based on low quality evidence). My conclusion from reading your stories is that this mutation increases a lot the likelihood of ANY type of cancer (which makes sense since it impairs DNA repair and DNA damage happens with rising probability as we get older everywhere - on the skin from the sun, in female/male organs from hormonal imbalances or infections, in the gut from infections, anywhere from radiation). The best way to reduce DNA damage is leading a healthy lifestyle, eat your veggies, reduce exposure to radiation, do NOT take hormonal treatments, stick to a single sex partner if possible and avoid infections in other ways too.
My own story. Mother got two different cancers at age 55 and 70 (cervical and lung), died age 75; her sister died age 56 from ovarian (most likely as a consequence of an infection), my sister died age 55 from triple negative BC, my cousin (son of aunt) died from bladder cancer age 58, I developed a number of pre cancers starting at age 46 (LCIS, colon polyps, uterine polyps, very abnormal fibroid, etc). I chose to get no treatment for my LCIS for 7 years, then did “prophylactic” mastectomy - it had not turned invasive yet, but my entire breasts were filled with it (and with innumerable cysts which caused a lot of pain). My grandfather from which we probably inherited it died from stomach cancer at 90! So you can live a long time before the cancers get you, no need to do prophylactic operations at a young age.
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I have a high rate of breast, colon and prostate cancer in my maternal family.
My Mom had five separate cancers over 15 years that were not metastasizing but new cancers. Lung, right breast, left breast, bladder and eventually sarcoma which had metastasized and she died 7 months later at age 65
Both my Aunts had similar histories and died along with a maternal cousin who died of breast cancer at 26, a maternal cousin who died of colon cancer at 53 and her brother was diagnosed with colon cancer a year later but was found early and he has survived.
Because of family history I was screened for breast cancer starting at 35 and when I turned 45 screened also with MRIs in addition to mammograms.
A genetic oncologist finally agreed to test me for genetic mutations but sadly only looked at 3 of the most common.
Six months after I was told I didn’t have those mutations I was diagnosed with breast cancer.
I had Stage 1 but grade 3 (which is the most aggressive grade), ER/PR-,HER2+ cancer and had a bilateral mastectomy and chemotherapy along with Herceptin for a year.
They then screened me for all the known genetic mutations linked to breast cancer and I have the NBN mutation.
It makes me angry that I wasn’t screened for all of them in the first place because I had made it clear that if I had any mutation I would have prophylactic mastectomies given my family history.
After discovering the mutation my sister and one cousin tested for mutations and both had the NBN and did have prophylactic mastectomies.
Thankfully my daughter tested and did not inherit it and my sons are supposed to be tested before they turn 40 so if they have it they will have colon and prostate screenings begun in their forties rather than starting at 50.
I am now 11 years out from my diagnosis and treatment and have tried researching as much info as there is on NBN.
it appears it clearly is linked to higher rates of breast, colon, prostate and a few others.
My brother for some reason wouldn’t get tested for the mutation and was diagnosed with prostate 2 yrs ago so it is likely he also has the mutation.
Thank u all for sharing your stories.
Given my strong family history of breast cancer and having the NBN mutation I definitely would have prophylactically removed my breast.
Finding cancer early is of course good but what I didn’t realize is that the Stage is not the only important factor in treatment decisions but the grade plays a large part to.
I thought if I found it early I would not need to undergo chemo which I now know is not the case.
I am grateful the chemo and Herceptin are likely why I have had no reoccurrence but it also gave me significant progressive and long term health effects.
For me, knowing I have both the mutation and family history means I would definitely choose to have prophylactic mastectomies if I had that info.
My daughter waited until she had finished nursing her last baby to be screened because she knew if she had the mutation she would have her breast removed.
It also means I push to have colonoscopy done every 3 years and started at age 54.
Take care,
Julie
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