ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)
Posted on: Mar 2, 2015 10:50PM - edited Mar 2, 2015 11:09PM by margodae
I was diagnosed with breast cancer at age 29. Genetic testing was brought up shortly after my diagnosis. I decided against it, at the time, for several reasons...the cancer institute in the city I live does not have a genetic counselor so I would have had to travel 5+ hours for this, no family history of breast cancer, etc.
Now, five years later, my original oncologist has retired and I have become established with a new one. In November, my new oncologist brought up having genetic counseling/testing. I was kind of surprised since it has been five years since my initial diagnosis and I have been cancer free. But, I guess it is never too late. After some thought and discussion with my family, I decided to pursue it. I traveled to Fargo, ND (where my parents live) and met with a genetic counselor. Even though I have no family history of breast cancer, I do have several other types of cancer in my family. My genetic counselor recommend testing for a 21 gene panel. This was on December 31. I got the results 4.5 weeks later and the only genetic mutation I tested positive for is NBN. This gene mutation is more recently discovered and so there is not a lot of information out there. I have been told it is linked to not only breast cancer, but also ovarian, melanoma, leukemia, and prostate cancer. I meet with my oncologist later this week to go over the results.
I'm just wondering if anyone else has tested positive for this gene mutation and what was recommended, if anything?
Thanks for any info!
Posts 31 - 51 (51 total)
Jan 9, 2018 05:11PM - edited Jan 12, 2018 04:34PM by drlaureno
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.
Jan 9, 2018 09:51PM TruffleShuffle wrote:
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.
Jan 9, 2018 09:54PM TruffleShuffle wrote:
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!
Jan 10, 2018 07:42PM - edited Jan 10, 2018 07:47PM by Kimberly1966
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
Jan 12, 2018 04:15PM - edited Jan 12, 2018 04:31PM by drlaureno
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,
my specific polymorphism = c.151G>A (p.lle171Val)
Jan 15, 2018 11:02PM Kimberly1966 wrote:
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
Jan 22, 2018 01:02AM ArleneBrown wrote:
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.
Jan 22, 2018 01:37PM TruffleShuffle wrote:
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.
Jan 31, 2018 10:01PM drlaureno wrote:
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.
Nov 4, 2018 05:03PM stevieandjazzy1 wrote:
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.
Mar 28, 2019 09:18PM heykylee wrote:
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!
Mar 24, 2020 02:31PM - edited Mar 24, 2020 03:15PM by Leighaevans
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!