NBN Genetic Mutation...anyone else?

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

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.

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.

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,

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/

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!

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

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!!!

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

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!

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.

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.

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

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!