BRCA1/2 Genetic testing points to prophylactic surgery, HBOC family like Angelina Jolie, I had no idea this was a thing except for her...

[CaleCakes]

I'll chime in here- I was diagnosed with triple negative breast cancer in Nov 2021 and had genetic testing in Dec 2021 based on family history. I was found to be BRCA1 positive, therefore my parents (and any other adult direct blood relative) were given the opportunity to test for free within 150 days of my positive test. My parents dragged their feet on it a bit and just recently sent in their samples (spit tubes) to which my fathers was returned as inconconclusive due to not enough saliva to sample. The company is sending him a new kit. Verdict is still out on mom's. They're just barely making the 150 day mark and have probably passed it at this point. I gave them the info and they did with it what they wanted. I do have 1 sibling, a brother.
We don't speak. Our relationship has never been great and came to a head about a year and a half ago. My mother told him of my diagnosis against my wishes and he sent a half hearted text back in December asking if i needed anything. I did not respond and haven't heard anything since- I want it that way. He is married and has no children (never will). I have 2 young children- I spoke to their pediatrician about the gene mutation and I will have them tested when they are of age (20 I've been told). As far as extended family, I told only a few aunts with no children. I did not reach out to cousins with children. We don't speak regularly or at all even so for me it would be very out of the blue ans awkward. I believe this is a very personal decision and one should not feel obligated to share what they do not want to share. If you don't have a relationship with your brother I support your decision not to tell him or his children.

As far as the surgeries go, I am faced with what you mention of having perfectly good tissue removed as a precaution. For me, with my children being so young, and the percentages being so high of the likelihood of developing another primary cancer, I have opted for the surgeries. My "plan" got flip flopped a few times since December and I have only had a lumpectomy (and port placement) so far. I am receiving chemo now- finished #4/16 today (yay done with the red devil ). If my numbers stay good I will have my ovaries and uterus removed May/June, finish chemo at the end of June, and have a double mastectomy with flap reconstruction end of July/early August.

This is certainly not at all how I envisioned what turning 40 would bring me. It is very dramatic at first then things calm down and it becomes routine- for me anyway. I am tolerating chemo well with very few to no side effects. I am looking forward to putting this all behind me though. Struggling with the decision of what to do is very real- there is lots to learn about all the options and long term risks/side effects. I didn't know anything about cancer treatments before i was diagnosed other than what is depicted on tv. I think taking your personal situation and thinking about your future goals and quality of life will help you make the decision that fits best for you.

I hope reading all of this and the other responses brought you some comfort.

 

[Princesca]

My sister was diagnosed with metastatic breast cancer at a young age. So far, thankfully, she's responding very well to treatment. There was no genetic link shown in testing, but as they will tell you, they can't test what they don't know about. So we are proceeding with extreme caution for my care. The cancer specialist I spoke to said something about going on Tamoxifen, prophylactically, and talked like it was no big deal, and I was like 'Um, but basically isn't that going to put me into menopause symptoms prematurely?' It just seemed like a huge step for something that was far from certain. My sister had a lot of other risk factors that I don't have. Poor diet, chronic smoker/drinker, never goes to the doctor for preventive care, etc. So for now, I'm doing breast imaging every six months, alternating mammo/MRI, and that seems more reasonable to me. Odds are pretty good that if something turned up, it would be caught early.

But it's frustrating to feel like you're having to roll the dice that way. And sometimes the cure is worse than the disease - not saying it is in this case, but...

 

[DisneyElite4]

Both my mom, aunt and sister all have/had the BRCA1 gene and have had breast caner, double mastectomies, chemo and radiation, all before the age of 35. My aunt did the genetic testing way back when it was first available to make it easier for her nieces - my sister tested positive for the gene at 22. She went in for twice yearly check-ups after that, and caught her cancer extremely early at age 28 more than 10 years ago. She's thriving now.

I tested negative for both BRCA1 and 2 when I was 25, so I will not need to have my daughter tested. Had I tested positive, I would have done the prophylactic surgery as was recommended by our many family doctors. My sister's oldest daughter was tested as soon as she turned 18 - she was also negative.

 

[LuvOrlando]

You have my best thoughts and wishes to get through this. It is complicated and there is no answer that is best for everyone.

However, if you do decide to have a bilateral mastectomy, I think it’s important to know there are more options than many surgeons will tell you about.
- no reconstruction, the svelte look
- reconstruction with expanders to stretch the skin, and then implants (silicone or saline), at least 2 surgeries required and takes 4-8 months, implants will likely have to be replaced every 10 - 15 years (I believe this is the most common reconstruction option, as these surgeries are the simplest and the easiest to recover from)
- reconstruction with newer ‘extra skin‘ techniques that do not require expanders, and implants can be placed within weeks and not months, still pretty new and not widely available
- reconstruction using ‘flap‘ techniques, breasts are rebuilt using your own fat (no implants), done at the time of the mastectomy, recovery is harder, as the place the fat is taken from has to heal as well, but it’s only one surgery, and no worries about implants

I’m sure there are other options I don’t know about. I’m always surprised/disappointed how some surgeons really only want to tell you about their favorite option. Personally, I want to know all my options and then make the best choice for me - I wasn’t given that opportunity, but I would love to make sure other women do have the best choices.

WOW, this maybe being a thing is a huge comfort to me since autoimmune worries make me think anything non-me might not be a good idea, I'll ask - thanks!

 

[LuvOrlando]

So after a ton of introspection I'm going ahead with getting the ovaries and tubes removed soon. I am having a conversation with a breast oncologist this week to get my risk info and then will be talking to someone about pancreatic risk and testing as well. This gene is implicated in many cancers so it's a lot to take in, my head spins but I need to hear it. Dr shared the risks for BRCA 2 start at 45YO and go up over time, I didn't know this, my personal risk for ovarian is 45% due to family members being part of the calculation so that's a lot to hear, had the Dr say it again to let it sink in - had him say it 4 times. Dr said they have better data now because of all the 23 and me/Ancestry tests people do now, I was asking about how solid they think the data is and was told it's very extensive. It's tough to reconcile because nothing I read ever used numbers this high so if it's in your family do at least talk to your Dr. and see about getting your own evaluation.

It's a scary and abrupt thing but I just sort of had an epiphany yesterday that all the selfless effort and careers and money and marches that go into breast cancer awareness and BRCA research are precisely for me, to save me, so how can I not listen to the most informed recommendations? It was recommended to get the ovaries and out within 2 months of testing so I'll be doing it soon, I'll probably have them out before the whole situation even fully settles in my mind. I sort of feel like I owe it to myself and these Dr's to give them a win for a life saved. What is happening with me and prevention is the goal of all the work so being within this space just feels surreal.

 

[theluckyrabbit]

WOW, this maybe being a thing is a huge comfort to me since autoimmune worries make me think anything non-me might not be a good idea, I'll ask - thanks!

I know someone who had her reconstruction done using her own tissue and fat. Very successful in her case. She says she feels great, and she looks terrific.

 

[Mamabun]

I know someone who had her reconstruction done using her own tissue and fat. Very successful in her case. She says she feels great, and she looks terrific.

I’ve heard many times that this method often has the best long term ‘feel’, you just feel like yourself, not constantly feeling the implants. However, some women have complications at the removal site (where the fat is taken from), so always best to get personalized recommendations from a knowledgeable doctor.

 

[LuvOrlando]

Done, the first set of offending bits are gone & I'm relieved.

 

[theluckyrabbit]

Done, the first set of offending bits are gone & I'm relieved.

Big hug! Been thinking about you and hope that your recovery is quick and trouble-free.

 

[LuvOrlando]

So some post surgery humor, a little jokey joke never hurt nobody - freaking ouch

 

[Dotluvsdisney]

I am in a similar situation. DCIS on left side. Had MRI in preparation for the single mastectomy and more suspicious spots on both sides. The right was biopsied to make sure they weren’t invasive. The MRI biopsy was painful, my right side is very bruised and the two incision spots are uncomfortable a week later. Plus the whole process was almost 4 hours start to finish. Still have a scar from my first biopsy. Knowing that I’d have to continue having biopsies and “extra” possible every 6 months I decided on a double mastectomy. Lumpectomy plus radiation plus hormone therapy plus the additional surveillance/biopsies was all yuck to me. I go in for surgery tomorrow! Praying your decision becomes clear to you. It’s a tough one and I wrestled with it all. Now to decide on reconstruction options! Lol.

 

[LuvOrlando]

I am in a similar situation. DCIS on left side. Had MRI in preparation for the single mastectomy and more suspicious spots on both sides. The right was biopsied to make sure they weren’t invasive. The MRI biopsy was painful, my right side is very bruised and the two incision spots are uncomfortable a week later. Plus the whole process was almost 4 hours start to finish. Still have a scar from my first biopsy. Knowing that I’d have to continue having biopsies and “extra” possible every 6 months I decided on a double mastectomy. Lumpectomy plus radiation plus hormone therapy plus the additional surveillance/biopsies was all yuck to me. I go in for surgery tomorrow! Praying your decision becomes clear to you. It’s a tough one and I wrestled with it all. Now to decide on reconstruction options! Lol.

So sorry this happened to you. Can I ask what was suspicious? My mother had calcium deposits for a long time before it was cancer. I have had weird lumps show up and then vanish in different spots since trying a Biologic for arthritis & won't be doing that again ever. Didn't know I was BRCA at the time I tried the medicines & am pretty sure anyone who is looking at those medications should check their status first. One of my ovaries had something in it when it was removed that wasn't cancer but shouldn't have been their either so maybe I dodged a particularly dangerous one headed right at me. I have an appointment with the Breast Oncologist in April to regroup after the MRI

I hope you will be ok with a good outcome, please come back to share what happens.




If you know your status or have family members who are concerned or BRCA positive or anything positive I guess, this is a source of information.
https://www.facingourrisk.org/

 

[Dotluvsdisney]

Done, the first set of offending bits are gone & I'm relieved.

I pray the threat of cancer never touches you again! And that you’re living your best life!

 

[MamaJessie]

I have had weird lumps show up and then vanish in different spots since trying a Biologic for arthritis & won't be doing that again ever.

Is that a known issue with Biologics? My BRCA best friend had been on Biologics since her mid to late twenties for RA. She passed at 45 from breast cancer.

To anyone else who may be unsure of preventative measures she always was very vocal about people taking the steps they could to avoid breast cancer. People have a tendency to minimize breast cancer because of success rates but she spent 10 years in the arena with cancer and it finally took her out this year. On behalf of her I implore anyone that has the option to take preventative measures because of BRCA to take them.

 

[Lulu27]

I am in a similar situation. DCIS on left side. Had MRI in preparation for the single mastectomy and more suspicious spots on both sides. The right was biopsied to make sure they weren’t invasive. The MRI biopsy was painful, my right side is very bruised and the two incision spots are uncomfortable a week later. Plus the whole process was almost 4 hours start to finish. Still have a scar from my first biopsy. Knowing that I’d have to continue having biopsies and “extra” possible every 6 months I decided on a double mastectomy. Lumpectomy plus radiation plus hormone therapy plus the additional surveillance/biopsies was all yuck to me. I go in for surgery tomorrow! Praying your decision becomes clear to you. It’s a tough one and I wrestled with it all. Now to decide on reconstruction options! Lol.

@Dotluvsdisney I am facing this same situation and am leaning towards the same path of treatment. How did your surgery go? What did you choose for reconstruction?

 

[LuvOrlando]

Is that a known issue with Biologics? My BRCA best friend had been on Biologics since her mid to late twenties for RA. She passed at 45 from breast cancer.

To anyone else who may be unsure of preventative measures she always was very vocal about people taking the steps they could to avoid breast cancer. People have a tendency to minimize breast cancer because of success rates but she spent 10 years in the arena with cancer and it finally took her out this year. On behalf of her I implore anyone that has the option to take preventative measures because of BRCA to take them.

Yes, it is very well known and in the warnings on every kind I have seen but I'm not sure people take the warnings as seriously as they should. Most people assume warnings are stray data, it is not

 

[Ursula J]

My best friend got a preventative double mastectomy last year. She's recovering well and relieved to not have to do such frequent biopsies/screenings. Her family history was a contributing factor along with genetics.

 

[MamaJessie]

Yes, it is very well known and in the warnings on every kind I have seen but I'm not sure people take the warnings as seriously as they should. Most people assume warnings are stray data, it is not

I remember her feeling very torn when they were recommending the biologics because of risks but her doctor basically made it sound like she wouldn't be able to walk by 30 and that scared her more I think. Hindsight I should be on biologics for my psa but just won't, too scary.

 

[LuvOrlando]

I remember her feeling very torn when they were recommending the biologics because of risks but her doctor basically made it sound like she wouldn't be able to walk by 30 and that scared her more I think. Hindsight I should be on biologics for my psa but just won't, too scary.

Same here, the Drs made me more frightened about the autoimmune stuff than the biologics, they got it backwards. I don't regret much but I do regret taking Biologics, first they should have looked for BRCA first or counseled me to look but this did not happen. *** Get life insurance from a private carrier in place before getting BRCA tested*** The biologics caused a cluster of permanent changes, my chest skin gets weirdly puffy in the sun and I can no longer tolerate salt because it makes me feel very ill & sugar is weird too, thank God the blood pressure stuff eased up after years although now my body can't seem to regulate temp in the heat plus for a bonus round of yikes it did nothing to help the arthritis, like no help, even better the Dr's don't own the alterations and just sort of shrug it off which is soooo comforting. And this stuff is what I notice and can see, who knows what is invisible and on the inside, I try not to think about it. Allegra helps the autoimmune stuff so much more in tiny doses, at least for me, a baby dose every other day is super stabilizing, swelling is going down and my migraines are even improving. I had an allergic reaction and took it for a while, then I noticed how much better I could walk and had much less pain which made me look and I found research indicating fexofenadine also acts on TNF which is what the biologics were supposed to do so, but Allegra is so much safer and readily available. I wish I knew that before, but Allegra doesn't make big pharma 25,000 a year so not a big shocker it's not on the tip of people's tongues, all is clear after the fact :/

 

[LuvOrlando]

Just to update, I had been having bouts of stomach pain issues a few years which have been shrugged off for some unknown reason and coincidentally the BRCA2 suggested sonogram guided endoscopy for Pancreatic. I did this in early December and 2 weird things popped up pointing me to 2 different body parts with 2 completely different kinds of serious precancerous findings and so far no-one seems to be too much of a rush to explain so I'm doing it and you know what? I suck at this self Dr'ing crap - what the hell... It's over 2 months, appointment tomorrow. My GP back in PA was shocked things were left hanging, me too Doc, me too.

Research Dr's created this BRCA2 awareness then step away, gotta get their crap together with managing the group of people they identify it is a mind eff. I know it has probably saved my life already but so far the ONLY medical disciplines that seem to know how to manage high risk of any kind is Breast Oncology and High Risk Pregnancy, everyone else is just bumbling.... this is not for the faint of heart.

The older I get the less I think they know.