BRCA negative, strong family history - prophylactic mastectomy?

Hello,



I have been active on the boards for awhile. I test negative for brca1&2. I also tested negative for Bart. My genetic counselor told me I am a negative for the above mentioned genes. She said, if my mother or any of the other 5 relatives that were dx in my family tested positive, I am still negative. The counselor did say that there is probably another gene in my family. I was dx with Lcis at time of prophylatic double mascetomies last summer. I am 47 years old. I hope this helps.

Elise

Hi!

Beesie has, as always, given you great information.  I am not sure you have all the information that you need to make an informed decision.

But, to answer your question, many women with strong family histories DO have preventative MX.

I have always had dense breasts, they are fibrocystic, and I had numerous fibroedenomas. I had DCIS/ADH and a lumpectomy at 23 (no idea of exact size, hormone status etc...it was large, I was young, and happy to have it out). 

My mother had BC at 28 (bilateral), her mom in her mid-40s (mets by 50), and her mom's sisters (2 0f 3) in their 60s.  I tested negative for the BRCA genes in June 2012. 

Was Dx with BC in Jan 2013 (both mamo and U/S missed it even with a considerable area of dimpling).  Decided on a bilateral mastectomy (was my choice, I could have kept both and done lumpectomy and radiation), so one breast was prophylactic. They will test me for BART in November when I see a genetic counselor.  I have other "growth" issues so they are testing for other syndromes as well.

My MO and BS both believe if they don't come up with anything, we are more than likely a family with a mutation that has not been detected.  But, could it be, and my mom was never tested so I will never know (oh, she died of lung cancer many years after the BC - nonsmoker too), that maybe SHE was BRCA positive (as well as her mom), and I was just unlucky?  I may never know. 

The prophylatic MX is a hard and personal decision. I don't regret my decision to not have one years ago, and am happy with my decision to remove both, including the healthy one, this year.

Hi Sarah - First of all let me say that the American Cancer Society suggests that high risk screening begin at 30. My daughter is 23 now, so I am watching closely for any new screening methods or treatments, so when she is old enough, we'll be well armed.

I was referred to a high risk BC screening clinic - this started in the early 90s. I was having yearly mammos, ultrasounds, and thermograms. If they found anything suspicious I was going every six months. I had my first MRI and excisionaly biopsy at 49. I had a second MRI and excisional biopsy at 51 - that is when they found the ALH/ADH. My mom had BC at 27 and passed at 29. I did have genetic info back to my maternal grandmother, and amazingly at least 5 generations back on my dad's side. I thought his side was the safe side - but it was riddled with cancers - 4 generations back 50% of the fam had BC - male and female! It was a very interesting exercise.

I also had the BART test and it was negative.

I don't know when they start recommending Tamoxifen. I kind of think you have to have existing breast tissue change before they'd recommend it for you.

I think I stayed with my clinic a little too long, as the screening methods were getting outdated. I think digital mammography is a pretty good idea.  Oh and of course keep up with the self exams. Know your breasts. I have some real doubts about thermography. Don't be concerned about having mammos. They are the first line of defense. It is important to have a base-line mammo established.

My DIL's mom is BRCA 1 pos. My DIL is 32 and needs to test ASAP. Even if she is positive she plans to do high risk surveillance at least for a while. Her fear is much different than mine was. Everyone she has ever known with BC has survived. When and if she has to confront this, she will.

Take care sweetie, live your life and don't let fear rob you of any of its joy.

I had a prophylactic mastectomy in June of this year due to my high breast cancer risk.  My sister was diagnosed at age 28 with IDC.  She has since tested BRCA negative, and P53 negative.  My known family history is very limited, due to adoptions on both sides - my mom is adopted and my father's female siblings are, too.  I am not aware of any other blood relatives having been diagnosed, however, my family is not close.  So in addition to my sister's diagnosis, I have (had) very dense breasts, with multiple  masses bilaterally, including several enlarged lymph nodes.  After genetic counseling, several biopsies, lymph node biopsy, too many mammograms to count, breast MRI, and lumpectomy, all of which returned benign findings, I made the decision to go forward with the mastectomy.   My surgeon gave me the option to go on a "watch and wait" plan, but for me that wasn't really an option.  I was just too stressed out over the whole thing, plus I had a significant asymmetry between the right and left breast that was becoming a problem for me.  So I chose to do the surgery, which, all things considered, wasn't that bad.  Definitely not a walk in the park, but it went smoothly and I felt mostly recovered within a month.  The pathology results were varied, but all benign findings.  I had tissue expanders implanted at the time of the mastectomy and had them gradually filled up over the summer.  I am scheduled to go in next week for my second stage, where the expanders will be replaced with silicone implants.  At this point, I wouldn't change a thing.  I am really happy with the outcome of the surgery so far, loving my "new" (temporary) boobs, and really looking forward to getting the rest done and over with.  I had an amazing team that took great care of me.  The resulting peace of mind is priceless.  I know there are people out there who think I took an extreme path, but it's an individual decision, and one I did not make lightly.  After my surgery, I was told that they had only seen a case like mine 3 times in 30 years at that hospital.  I feel good about my choice.  I realize it's not for everyone.  Just wanted to share my story in the hopes it may help someone else.

p53 (also known as protein 53 or tumor protein 53), is a tumor suppressor protein that in humans is encoded by the TP53 gene

Mutations in p53 - which can cause Li-Fraumeini Syndrome - can result in an increased risk of several types of cancer, including breast cancer.  My sister was not tested for this upon her diagnosis, however, my doctor thought it was appropriate given her age.  She had the test done because I bugged her to do it.  Just wanted to close that loop.

I guess I forgot to mention that in conjunction with my PBMX, I also had sentinel node biopsy, both sides. 

Uninformative BRCA negative here, I chose risk reducing NSM 3 years ago . No regrets, no complications & amazing results , very personal decisions. I refused to become another potential victim . Btw, there is a big difference between a true negative & being uninformative . PM me anytime for more details .

changes2013, I must be missing something here. If your sister is BRCA2 positive and it is known/believed that your mother and other members of her side of your family are or were also BRCA2 positive, and if you have tested negative for the BRCA2 mutation, then to my understanding that would mean that you dodged the bullet and your risk is likely no higher than that of the average woman. So what is driving you to choose to have a prophylactic bilateral mastectomy?

I'm new to this site and I was answering the very first question above....I watched my mother suffer with metastatic breast cancer for 17 years. She was 45 when they found her first lump. She missed several important events in my life during her illness. I watched her take her last breath. My young daughters are without a grandmother. I pushed for my family to have genetic testing after her death. My mother was against it because at that time, insurance companies were allowed to drop you if you were tested and found to be positive. It became law, after her death, that insurance companies could no longer drop anyone if positive. Yes, I spoke to a counselor. Even before the genetic testing, I always felt like I would go forward with surgery, regardless of the results. Dodging the gene does not mean, I won't have BC. A friend of mine, same age, has a strong family history, but negative for the gene, was just diagnosed with breast cancer. Dodging a bullet is great...but it doesn't remove the psychological damage I suffered watching my mom suffer. I have no attachment to my breast. They represent fear and worry to me. I recently had an abnormal mammogram with biopsy. Biopsy was benign, but after the anxiety of one month waiting for results, I asked my doctor if I could be candidate for reconstruction surgery. My two aunts (both had BC-one double BC), three cousins, and sister who are positive, were covered by their insurance for preventive care. Because I only have a strong family history, I am not covered. I have great doctors who are very supportive of my decision. So much so, they were able to get insurance coverage for my surgery. I am choosing this for myself, no one persuaded me. It's something I've wanted to do since I was 18 (20 years ago). My negative test result does not mean that I cannot get cancer. . Statistics show that approximately 12% of all high-risk people have a BRCA1/2 mutation that is not identified yet, so it’s missed by the test. Genetic testing is not yet perfect and current techniques cannot “read” the gene/DNA completely. Genetic testing is getting better and better each day and the medical community is making leaps and bounds strides against breast cancer. BRCA is the current test, and hopefully one day soon, a more predictable accurate test will be available that can identify every mutant gene. So for me, the choice is obvious. I would do anything to have my mother here with me. There isn't a day that goes by that I don't think of her and still hurt like it was yesterday...It's been 9 years since her death, and the pain of watching her suffer is still with me. Preventive care should be a choice, not only for those with positive test results, but for those who carry a strong family history as well. .

changes2013, I agree preventative care should be an option for those at high risk, even without a BRCA mutation. I am high risk based on family history (40% risk), and looking at PBMX in the future. I am under the care of a high risk group of doctors, get high risk screening, and will be covered for surgery and reconstruction when the time comes. But again, there is a difference between a true negative and an uninformed negative. The OP was asking about getting a PBMX as an uninformed negative.

In an uninformed negative, they do not know what is responsible in the family for the high risk. It could be an unknown and/or undiscovered mutation. It could be polygenic. It could be as their affected family member(s) cannot be tested. So, their high risk is based on family history and an understanding that those in the family who have been affected do not have a known mutation. As an example, every woman in my family in the last three generations has had breast cancer. All but my mother have died from it (she is 7 years out, original dx of Stage 3 ILC, now with NED). There is no BRCA mutation that we know of. We are therefore uninformed negatives. This sounds like the situation for your friend, where her affected family members do not have a mutation. So...her family shows hereditary cancer, but they do not know what is being inherited.

In your family, there is a known mutation, being BRCA2. Your strong family history is therefore based on a known mutation. Of course a negative result does not mean you cannot get cancer. A positive one does not mean you will get cancer either. Not even a prophylactic mastectomy means you won't get cancer. But if you do get cancer, it would not be due to your family's hereditary BRCA2. It is very, very rare to have more than one BRCA mutation run in a family, though sometimes it is seen more in Ashkenazi Jewish populations (if you fit this category, a test for the 3 mutations is $400...or $100 through 23andMe). With a known mutation your risk of cancer being a true negative is much lower than most in the uninformed negative category, or if you DID have the BRCA mutation that runs in your family. As said, a true negative puts you back at average lifetime risk of 12%. So of course not 0% because no one can guarantee that...but not high risk. Did your genetics counselor provide you a new risk assessement after your test results came back?

You said this: "Statistics show that approximately 12% of all high-risk people have a BRCA1/2 mutation that is not identified yet, so it’s missed by the test."

Please let me know where you get that statistic, because that does not seem right and contrary to everything I have read, or been told. Nor does it make sense. How would they know 12% of all high risk people have an unidentified BRCA mutation...if they can't identify there is BRCA at play? BRCA is not a "current test", but rather a gene that some people carry a mutation on. Testing for BRCA mutations is actually very good and very accurate, since it can even pick up variants...not just known BRCA mutations. It is true that many people with hereditary cancer do not have BRCA mutations in their family, but large rearrangement testing (eg BART) can find even mutations that are not "known" so those who are uninformed negative likely have other mutations (not BRCA) or a combination of genetic changes at play. Again, these are families without a known BRCA mutation as in your family.

I am sorry about your mother, and ultimately you need to do what is right for you, and I can absolutely understand why your mother's experience has affected you and if a PBMX would reduce your anxiety than perhaps it is best choice for you, but you also are NOT an uninformed negative like the OP on this thread or others of us are. It is possible the OP is a true negative but as her mother has passed and cannot be tested, she remains an uninformed negative. So, there is a lot more uncertainty with her "negative" result than genetics experts would interpret with yours.