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NBN Genetic Mutation...anyone else?

margodae
margodae Member Posts: 9
edited September 2023 in Genetic Testing

Hello,

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!

Margo

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Comments

  • KristyS120
    KristyS120 Member Posts: 1
    edited June 2015

    hi Margo

    I found out I have a nbn mutation about one month ago. I underwent the panel testing due to high incidence of breast cancer in my family. I am highly considering a bilateral mastectomy. Would love to know more about your journey...

    Kristy

  • moderators
    moderators Posts: 7,886
    edited June 2015

    Hi Kristy and welcome to Breastcancer.org,

    Since Margo's post is from early March, she might not see your post -- you may want to send her a private message by going to her profile (clicking her username), and clicking send private message.

    We hope this helps and good luck with your decisions!

    --The Mods

  • margodae
    margodae Member Posts: 9
    edited June 2015

    Hi Kristy,

    Thank you for responding to my post. I am sorry that you have also tested positive for an NBN mutation. Since there is so little information out there about it, I'm curious what you have been told?

    I have been meeting with my doctors and have been having discussions regarding a bilateral mastectomy and a hysterectomy. No decisions have been made, just gathering information and opinions, at this point.

    Margo

  • Lyndsey
    Lyndsey Member Posts: 1
    edited July 2015

    I just received the results of my test of 20+ potential gene mutations. It shows that I have NBN gene mutations. I took the test because I have a strong family history of breast cancer (sister, mother, grandmother) and colorectal cancer (maternal grandfather and his siblings, mother, and sister). I have dense breast tissue, which I understand is a concern, and am on replacement hormone therapy. I have not yet talked to my doctor or oncologist, but from Margo's and Kristy's very helpful comments I wonder if a bilateral mastectomy is a prudent and approved course of treatment for someone with this gene mutation, while not as severe as other gene mutations, and with a strong family history of breast cancer. Is a preventative mastectomy something that oncologists are beginning to recommend for this gene mutation? Is chemoprevention ever used for NBN gene mutations? I realize that MBM mutations are new to breast cancern treatment and prevetion. Your comments are very helpful, and I appreciate your sharing what it is like to have this mutation.

    Lyndsey

  • moderators
    moderators Posts: 7,886
    edited July 2015

    Hi Lyndsey,

    Sorry you are here with any concerns, but hopefully we can be a support and help. In case you haven't read this, you may want to take a look:

    Prophylactic Mastectomy

    Family History

    Is Prophylactic Ovary Removal Right for You?

    Please keep us posted!

  • Linny50S
    Linny50S Member Posts: 3
    edited February 2016

    I have a very strong family history of breast cancer and tested positive for NBN mutation. All of my maternal aunts (2) and my mother had breast cancer and later died. I had my mother bank her blood in case another gene mutation was discovered (she did not have BRAC). Her blood tested positive for the NBN mutation. All of my maternal cousins (4) have/have had breast or prostate cancer, linked to NBN and 2 cousins were tested and found to be NBN positive. My youngest sister is also NBN positive. My younger brother tested negative. My younger brother has had colon cancer at age 54 and my younger sister died of colon cancer at 55.I had a prophylactic bilateral mastectomy on Sept. 9, 2015 with reconstruction started. It is now Feb. 28, 2016 and I have to wait until March 24th for my implants, due to having to have my expanders replaced because of a leak and not loosing my drain tubes until Dec. 29th! I do not regret the mastectomy but I hate the pain and discomfort of these expanders. Reconstruction is not for the faint of heart.

  • Linny50S
    Linny50S Member Posts: 3
    edited February 2016

    I have a very strong family history of breast cancer and tested positive for NBN mutation. All of my maternal aunts (2) and my mother had breast cancer and later died. I had my mother bank her blood in case another gene mutation was discovered (she did not have BRAC). Her blood tested positive for the NBN mutation. All of my maternal cousins (4) have/have had breast or prostate cancer, linked to NBN and 2 cousins were tested and found to be NBN positive. My youngest sister is also NBN positive. My younger brother tested negative. My younger brother has had colon cancer at age 54 and my younger sister died of colon cancer at 55.I had a prophylactic bilateral mastectomy on Sept. 9, 2015 with reconstruction started. It is now Feb. 28, 2016 and I have to wait until March 24th for my implants, due to having to have my expanders replaced because of a leak and not loosing my drain tubes until Dec. 29th! I do not regret the mastectomy but I hate the pain and discomfort of these expanders. Reconstruction is not for the faint of heart.

  • MomCof3
    MomCof3 Member Posts: 1
    edited April 2016


    I have a very strong family history of many cancers. I started getting mammograms quite early. Having extremely dense breast and always abnormal results. I've had several biopsies and decided I wanted to take preventative measures and opt for the bilateral masectomy with reconstruction. My insurance company would not approve the surgery because there was no cancer. Although I had been treated for cancer cells on my cervix and uterus, not to mention the polyps removed during my colonoscopies. The insurance company wanted Braca1 and Braca2 only. My oncologist pushed for the 32 gene since I've had so many issues and the family history is strong. Received my results and tested positive for hereditary mutation of the NBN gene. Had my oncologist wasn't persistent this is information I wouldn't have never known. Needless to say the surgery was approved and I had the DIEP FLAP with immediate reconstruction. It's only been a month and I'm coming along. Now the talk of a hysterectomy has been introduced and I have also decided to get it done after I am healed from this surgery. The doctor has also explained that there is a 50% chance I could have passed this gene on to my daughters and suggest they get tested as well as my grandson. I am pleased with my decision but this has been a scary journey.

  • moderators
    moderators Posts: 7,886
    edited April 2016

    It sounds like a very scary journey, indeed. You must feel remarkably proud for how you have handled your situation. Depending on your daughters' ages, a conversation could be very helpful. Please let us know what happens!


  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited July 2017

    I understand that this thread is an older one, but I just wanted to chime in anyway just in case some other people are looking for information on the NBN mutation. It's hard to find Much on this mutation. I tested positive for the NBN mutation and for APC variant of unknown significance. I decided to test on the myriad 20+ gene panel because of my extensive family history of breast, ovarian and other types of cancers. My mother tested, she has yet to receive her results, but her family has the long history of breast, colon, and other cancers. Two of my nine sisters tested, younger sister came out all clear, older sister hasn't received her results. Anyway, I've always had anxiety inducing mammograms. I've always received the "call back", had sonograms ordered, and "problematic spots". I had a prophylactic bilateral salpingectomy (fallopian tube removal) a year ago. And am seriously considering prophylactic BMX. I can't do the dreaded mammo/sono/call back/MRI every six months for the rest of my life. I also started colonoscopies early even though it doesn't say for certainty that this genetic mutation elevates colon cancer risks... the APC does, but its variant of unknown significance. People with the NBNgenetic mutation do seem to have a family history of colon cancers. This all can be so confusing. Anyway, just putting my experience with this gene mutation out there if it will help anyone else. If you're reading this, I wish you peace with whatever you decide to do to deal with this mutation.

  • peregrinelady
    peregrinelady Member Posts: 416
    edited July 2017
    I had genetic testing and the only thing that came up was APC - uncertain clinical significance, but my counselor didn't say anything about colon cancer. My twin sister died of breast cancer, my father of pancreatic, and my uncle of colon. Is there a connection between APC and colon cancer? Just asking because I have had adenomas in my colon previously. Thanks for any info you can steer me to!
  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited July 2017

    Peregrinelady,

    I was told that the APC (Adenomatous polyposis coli) is a protein that is encoded by the APC gene in humans. And that mutations in the APC gene may result in colorectal cancer. APC is classified as a tumor suppressor gene. Keep in mind this is all sterile medical talk that sounds super scary. Let your health care providers know about the results of your testing. And make sure you all have a screening plan in place- i.e. Keeping up with your annual colonoscopy etc etc. Because we both seem to have come up with a "variant of unknown significance" or "unknown clinical significance" it seems that they don't know whether or not the mutation they detected in our APC gene puts us at higher risk for colon cancer per se. It just let's us know that we DO have a mutation in this gene, just not the mutations they have found and studied extensively to conclude that it actually increases risk for colon cancer or forming polyps?? It can get confusing, and induce a lot of anxiety. I just look at it this way, my maternal grandfather had colon cancer, and my mother has had polyps removed at many annual colonoscopies- so this little blip on my genetics results wasn't an enormous surprise. I started colonoscopies earlier than most people anyway just based on those facts alone. The positive unknown significance just reassured me that was the right choice.

    These positive genetic results can be so scary. I feel for everyone who gets that positive. We just all have to remember that it doesn't have to be a punch in the gut, but maybe a firm push in the right direction? ((((Hugs to all))))

    Below I'm including a link to a site that helped me understand a little bit about my results. It goes directly to the APC gene, but you can search other genes.

    https://mysupport360.com/apc-gene-mutations/

  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited July 2017

    Upon further investigation I noticed this article says "high risk of developing PRE-cancerous polyps in the colon". Which is exactly what my mom has experienced. Precancerous polyp removal at several colonoscopies. And her father developed colon cancer. I'm not going to try to set up a lecture podium about cancer, because it can literally happen to anyone regardless of lifestyle/diet- BUT I will say that my grandfather was like a character from An old western sitcom- he NEVER went to the doctor, he didn't trust them. And his diet consisted of vienna sausages, velveeta cheese, and canned soup..... he smoked three packs a day prior to being diagnosed with cancer. So, he may have been able to catch his cancer before it even occurred had he been more vigilant with his health and dr checkups. Having the opportunity to test our genes is kind of a double edged sword. It is scary, but at the same time we have this knowledge to work with. Anyway, I talk too much. Lol best to all

  • peregrinelady
    peregrinelady Member Posts: 416
    edited July 2017
    Truffle, thank you so much. Everything you said makes sense to me since I have had precancerous polyps. I have had 2 colonoscopies, first 10 years ago (polyps found), then 5 years ago (nothing found.). So surgeon said I needed another in 5 years which is this summer. However, my PCP said 5-10 years. Complicating issues is the fact that I am on warfarin after a pulmonary embolism last summer. My gut says I should get the colonoscopy now but I am scared with the whole blood clotting problem. I think I need to share your information wish PCP and get it sooner rather than later. Thanks!
  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited July 2017

    I'm definitely happy to help. If you feel you should have the screening earlier, that's your call, & doc should be able to work with your concerns.


    ((Hugs))

  • trina21
    trina21 Member Posts: 9
    edited August 2017

    My genetisist at UCSD instructed me to NOT get mamaograms. NBN gene causes severe radiation sensitivity. Basiclly mamograms will give you breast cancer. Mt mothers doctors in NYC gave her the same advice. She has breast cancer and NBN. I have NBN too. You should get MRIs and Ultra sound unless they find a lump, then only do mamaograms to verify cancer

  • trina21
    trina21 Member Posts: 9
    edited August 2017

    YES it causes colon cancer. My grandfather had it

  • trina21
    trina21 Member Posts: 9
    edited August 2017

    My mom and I both have NBN. My sisters will be tested soon. We are sure they have it too since they have melenoma (NBN causes Melenoma) and their daughters have melenoma too. My son is being tested. He are sure he has it to because he has Lymphoma (NBN causes Lymphoma). My 2 daughters are being tested in placed into the cancer prevention program at Rady childrens hospital. My grandpa had colon cancer (NBN caused) and my mom has breast cancer (NBN) that's 4 generations of NBN all with cancer. EVERYONE WITH NBN NEEDS TO HAVE THEIR CHILDREN TESTED!!!

  • moderators
    moderators Posts: 7,886
    edited August 2017

    Trina, that's quite the family history. Thank you for sharing your story.

    --The Mods

  • Shari-Ann
    Shari-Ann Member Posts: 1
    edited September 2017

    I have the NBN gene mutation too. I've had breast cancer and melanoma. My kids and grandkids have had melanoma and lymphoma,. I had a lumpectomy and soon to have ovaries out. I took hormone replacement therapy for years before I knew about my genetics. You should avoid that when you reach menopause

  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited September 2017

    I'm so glad more people have found their way to this thread to tell their stories (not glad under the circumstances we all find ourselves here though). It is difficult to find many people with this particular genetic mutation. Thank you all for speaking out.

  • dymndgrl59
    dymndgrl59 Member Posts: 2
    edited October 2017

    I was diagnosed with breast cancer and from prompting by my Oncologist did the genetic testing by myriad. I was found to be positive for the NBN mutation in March of this year. I am the first one in my family with the breast cancer. My Father and his two brothers all had prostate cancer. He also later died with AML after about 3 years. He was 61. One of my brothers has had thymus cancer and Melanoma. My other brother has had pre-melanoma removed. My OBGYN says that NBN Mutation according to Myriad is not related to ovarian cancer, and is reluctant to remove ovaries. Can anyone tell me if they had heard anything else about this. I have had PCOS my whole life and have also had a ultrasound recently that found calcifications on my right ovary. Very nervous about just doing screenings on my ovaries. The oncologist only recommended colonoscopy every three years and hormone therapy since my surgery this year. Any new information would be helpful.Thanks! Smile


  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited October 2017

    hi, dymndgrl59

    While doing all of my research about this mutation I've learned frustratingly little. For sure an elevated risk of breast cancer, melanoma. And then after that things get vague. There is a possible link to certain lymphomas and childhood lukemias. And then I have read on one website that there is a possible link to ovarian cancer, but then a different site states that there is no link to ovarian cancer. So, as far as I understand geneticists are still working on studying this mutation. I worry about my sons, they have a 50/50 chance of having inherited this mutation. i haven't been diagnosed with pcos, but I do have endometriosis. My mother struggled with endometriosis as well. She had one ovary and herFallopian tubes removed in her late 40's- she still has one ovary and her uterus. As of right now, I have had ovarian cysts removed and my Fallopian tubes fully removed.

    My mother recently discovered that she has this same mutation- and She Recently found lumps in her neck that have been screened and are suspicious for malignancy. We don't know much right now, but we should know more at the end of this week. We are suspecting lymphoma. Praying that it isn't. Praying that it is nothing. I hate that cancer exists. I hate that humanity hasn't found a cure. I hate that we see it as something that happens to other people until it is right on our own doorstep and the nightmare is realized. I hate that you have been diagnosed with breast cancer- I wish you a swift recovery, and a long peaceful life after cure.

  • dymndgrl59
    dymndgrl59 Member Posts: 2
    edited October 2017

    Thank you for your information. I wish I knew more about the women on my fathers side of the family. Problem is I have one cousin that is a girl, all the rest of blood relatives are either dead or male. doesn't help me to figure out my risk. My mother and my Grandmother both had hysterectomies early in life so no information there either. I was not able to have any children, but my brothers have kids. I informed them about the genetic testing and they will need to pursue it if they wish to. One of my brothers said he would get tested and let me know if he finds out anything new. My other brother is in a clinical trial with MD Anderson for his cancer with pet scans every six months, not sure if the genetic thing has come up in that case. I pray that your mother's issues don't turn out to be lymphoma... I guess the best we can do right now is to be diligent about getting things checked out and try to stay healthy. I still feel a little blindsided by the breast cancer, but I also feel fortunate that it was found early by a mammogram. I decided to do a bilateral mastectomy and reconstruction because I was afraid of the radiation. Then after the surgery I found out I was positive for the NBN mutation. The Oncologist said that was intuitive for me to have made that decision to do the mastectomy. I just recently went in for the exchange from expander to implant and I am recovering now. I will let you know if I find out anything new about the mutation.Smile

  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited October 2017

    You are very welcome dymndgrl59. And thank you for the well wishes for my mother. She's actually at an appointment right now. I also understand being in a situation where you don't know much about extended family as far as genetics and risk goes. I interact with neither my mothers nor my fathers side of the family anymore, but I did know enough family history of cancers to apply it to my genetic testing and medical records. I have no idea if any of them have had genetic testing or what the results would be. So, that's unfortunate.

    I'm glad to hear you made the right decision with your surgery and reconstruction. Wishing you all the best.

  • Jessica81
    Jessica81 Member Posts: 1
    edited December 2017

    Hi all, I just got the results of my genetics testing and am positive for the NBN mutation (neg for BRCA 1/2). Testing was recommended due to strong family history; my grandmother was diagnosed in her late forties and underwent a single mastectomy, my older sister was diagnosed last year with triple negative breast cancer and sadly did not survive. She was 38 years old. I am now 36, and, needless to say, a bit uneasy. My genetics counselor is recommending mammograms and MRIs alternating ever 6 months. Just looking for some feedback. I have been considering a prophylactic mastectomy, but not sure what I should do :( any insight is welcome. Thanks.

  • erinwillig8
    erinwillig8 Member Posts: 1
    edited December 2017

    Thank you all for this great information, my grandmother just went through stage one breast cancer this is all great information to know about.

  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited January 2018


    Jessica81,

    First I want to say I'm so sorry about your sister, and I'm sorry that you have tested positive for this mutation. I am also NBN positive, my mother is too. My mothers side of the family has an extensive history of breast cancer (as well as other cancers). I have watched loved ones suffer, I have two children & a husband, and I want to be here for them. I want to also be my best self for my family... and if I am constantly full of anxiety and fear waiting on call backs and screening results every six months for the rest of my life I cannot be my best self. I have decided on a prophylactic double mastectomy with immediate diep flap reconstruction. Some would call it extreme, but I would say to them, "This is my life, my body, my mind, my family, and my soul. Kindly F**k off. Pardon my French."

    Just remember this, Jessica: This is your decision, and one day this will be behind you so that you can refocus and get on with your life. If you would do well with vigilant screenings, then that is up to you. If you want to go through with mastectomy and reconstruction, that is also up to you. I had no genetic counselor at first, and was left to do my own research, and be my own advocate. It was scary, but I'm kind of glad it ended up that way because at first I was told by doctors and other people what my best option was... simply because the local doctors only preformed one kind of reconstruction (implants). Don't get me wrong, many women do well with them, but implants just aren't for me. I am going to leave some information for you that I wish someone had left me when I started all of this. I'm leaving links to microsurgeons in San Antonio and New Orleans who specialize in diep flap- but they also do implants. Just so you can get an idea about what these recons can look like, and what the process is. Both groups recieve people who travel from around the nation and sometimes fromdifferent countries. All of that being said, there are many extremely experienced and GREAT surgeons elsewhere. I'm also leaving links to blogs, and websites that helped me so much. You have to research, ask questions. Good luck with this journey of yours. I'm sending warm and peaceful thoughts to all of you. :) I hope this has helped.

    prma-enhance.com

    Breastcenter.com

    Diepcjourney.com

    https://www.ihearitssunnier.com/

    https://www.paigeprevivor.com/

    http://www.facingourrisk.org/index.php

  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited December 2017

    erinwillig8

    You are so very welcome. I am sorry that your grandmother is going through that. Peace to you


  • TruffleShuffle
    TruffleShuffle Member Posts: 15
    edited December 2017

    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!