All of the risk factors but BRCA negative
The doctors were SURE I would come up with a deleterious mutation. 25 tested and not one. My family history of breast, ovarian, and pancreatic cancers is extensive. I have dense breasts and LCIS on top of it. Waiting for the doctors to decide on when/if to do a lumpectomy (because, you know, LCIS). My aunt just called. They found extensive LCIS and a very suspicious lesion that requires a lumpectomy. It doesn't look good Her sister (my mother) and her mother all had multiple breast cancers. Both of my sisters have had multiple biopsies. We are all watching and waiting.
We are on this stupid hereditary breast cancer train but BRCA negative. No one knows what to do with us. Just frustrated with my doctors and their inability to be proactive.
Comments
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Similar story here. I had 21 genes tested and all came back negative. But my maternal grandmother had BC (she did live to be 95).
My mom's older brother died of pancreatic cancer in his 30's. And my mom died of thyroid and lung cancer one of which spread to her brain and spine.
I also have dense breasts and of course now BC myself.
If I may ask, what would you like your Drs to do to be more proactive?
I am also still sorting this out, as in what I can do in terms of being proactive, more screenings and if so what type's? Given this family history and yet no found mutations.
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My doctors are saying that I dont need biopsies of two areas of concern from the MRI, don't need a lumpectomy of the LCIS region. They were going to recommend those things if I were BRCA positive. But I'm not, so it's like they think I'm not high risk now. Now my aunt likely has BC.
I guess I want to hear the doctors say that a prophylactic double mastectomy is reasonable. They were all recommending it until I came up BRCA negative. Now they want to sit back and wait.
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Get a second opinion from a cancer center. Just because it's "only" LCIS and you don't have a mutation that can be found at this point in time, you have extensive family history which warrants lumpectomy at least. Sorry about your aunt's diagnosis.
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I have a second opinion appointment next week. I'm not sure what happens after that. What do you do if your doctors disagree? My insurance limits who I can see. I had to fight for the second opinion because it's "only LCIS".
I'm sad about my aunt. There have been suspicious spots that they have said were nothing for years. She was prepped for a lumpectomy just last year and they told her at the last minute that it wasn't necessary. She has dense breasts and never an MRI.
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it seems like MRI and lumpectomy are very reasonable procedures and biopsy depending on the results of the MRI.
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I'm curious if the genetic test you did was just for breast cancer related genes or a mixed cancer panel? I had BreastNext, which had 17 breast cancer related genes. I was negative for all except Bard1, and it was a variance of unknown significance, and it's predicted to be benign. All of this started when my brother was diagnosed with Stage 4 breast cancer. My genetic counselor was almost sure it was some high level mutation like BRCA2 when I got breast cancer. But nope. My brother and sister are BRCA2 positive, and I am not. I was tested twice too, so no mistake. It was just sporadic for me with very close timing. I still say that my brother saved my life, because if he had not been diagnosed, my cancer would never have been found (nothing on mammo or ultrasound). MRI is the most sensitive tool there is for breast imaging, but lobular tends to hide. I would really recommend you get a biopsy and maybe excisional biopsy (lumpectomy). Your family history should be enough to put your invasive breast cancer risk in the 40% range (like my sister before we knew she was BRCA2+), and that opens up more options for you. Wishing you the best, and hopefully it's just LCIS and nothing else.
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I had the My Risk panel from Myriad. It tests for these genes: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
No one else in my family has been tested. So it really is an unknown. And the genetic counselor never gave me my current risk so I'm not really sure how family history in the absence of a positive gene, dense breasts, and LCIS all factor together to give me my personal risk. It's a bit frustrating. I'm hoping my second opinion appointment next week can shed light on things.
I thought I read somewhere those from BRCA + families but were negative themselves were still at an increased risk. I'll look for it.
Edited to say: ok. I see now that it is a myth. This site has the info: ww.breastcancer.org/research-news/20111101
Edited again: Hmm. This was published in 2013. It looks like a 4x increased risk even if BRCA neg in a BRCA pos family. https://www.sciencedaily.com/releases/2013/11/1311...
It's all so complicated.
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I'm with Molly. My BC sent me for genetic testing to see how much surgery I'd need, not if.
He also sent me for a breast MRI, regardless of how the genes came back, and I'm going for my 3rd biopsy next week for a 2nd microcalc in the left breast. I will say I do have good health insurance. I am sorry things are like that for you
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I too am BRCA negative from a very highly positive BRCA 1 family. I now have ADH. They did do a lumpectomy to confirm. Now they don't know what to do with me. It's confusing. I too had genetic testing done twice. First from Myriad and this most recent go round testing for 19 mutations ( like you all negative ) from Color Genomics. We are all seemingly in kind of the same boa
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I guess there is still a lot they don't know about the genetics. The doctors seem to place so much importance in a test. And then what when you are negative?
I'm really struggling about what to do surgically.
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I am 4 months out from a prophylactic bilateral mastectomy. My family is loaded with breast Ca including my mother, her mother, grandmother and 3 of 5 aunts. My mother is BRCA negative. I was given a risk estimate of "at least 30%" by a genetic counselor. I was followed closely with mammograms, ultrasounds and yearly MRIs. The option of PBMX was discussed at my first visit at a hereditary cancer program when I was 40. I am now 47.
I finally decided to have the PBMX after my breast radiologist strongly recommended it. My mammograms and MRIs were a "nightmare" to read according to her. I was full of cysts and calcifications and never went more than 6 months without a mammogram.
The BRCA genes are well known, but a significant number of hereditary breast cancers do not have identifiable genetic mutations at this time. I'm comfortable with my decision. It would have been helpful to have the information that genetic testing can provide, but I certainly don't dwell on it.
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Hi sueshew and welcome to Breastcancer.org!
Thank you for sharing your story -- it's true, there are so many dynamic pieces to the genetics of breast cancer.
We look forward to hearing more from you!
--The Mods
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Momof6, is your second opinion at a NCCN cancer center? Are you seeing an medical oncologist, a surgeon, and and a genetics specialist? Ideally you would get a second opinion from a whole team. It's my belief that testing and treatment recommendations from a top center will carry more weight with an insurance company. I would pay for the consult myself if necessary. Treatment recommendations for LCIS are evolving, and with your age and family history, you want the most current and expert knowledge.
Near Indiana: Case Comprehensive Cancer Center, OH; Ohio State University Comprehensive Cancer Center, OH; Robert H. Lurie Comprehensive Cancer Center, IL
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Oh Shetland, insurance has been a nightmare. Bottom line, I was only allowed a surgical consult at Univercity of Chicago. Northwestern would have been a NCCN center. But I had to fight to get to U of C. I was told that the entire team meets to discuss the case and I reached out personally to the pathologist, radiologist, and MO who specializes in familial breast cancer to discuss my case prior to their meeting.
I have 6 children and there is only so much I can pay for. Depending on what comes of the consult at u of c, I will discuss with the insurance company what is next.
It's just awful that the insurance company is in charge of my care. But it is what it is.
Edited to add: I am aware of the financial burdens of treatment. My parents had to file for bankruptcy the year before my Mom died. It was so stressful and demoralizing. So I'm determined to get the best within the system that I can afford. It has meant a lot of research and legwork on my part. And it is one of the reasons I'm considering drastic risk reducing surgeries.
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It is so awful that we are at the mercy of insurance companies. It is very good that you are going to have a team discuss your plan, and a university hospital is a good place. And it's great that you reached out like you did to some of the team. Your research and legwork are important. Cancer takes so much time, energy, and money. You are doing it for your kids as well as yourself, and you want to have time, energy, and money left for them. If you do decide you still want to consult anyone else, for advice not treatment, you might ask the social worker at the hospital or maybe the American Cancer Society if there is any financial assistance available to pay for the consult. You say the genetic counselor didn't tell you your risk. Can you contact them and get that info to give the U of C team? And you have a pedigree chart to give them, too, right? Sorry, not trying to be pushy. I'm feeling like a mama bear ready to fight for you. If it comes to needing to submit an appeal to the insurance company, create a post explicitly about that and I bet you will get some good advice here.
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Not pushy at all, Shetland! I really appreciate your advice and concern. I did sent the team at u of c my pedigree, and will bring it to the consult. I'm actually going to work on a referral to u of c for genetic counceling. The geneticist I met with was incredibly rude.
There are also two aditional issues right now that my current team at my local hospital are writing off at the moment. One is bloody discharge from the troublesome breast. It is almost 2 months since my biopsy, and I've been told that shouldn't be happening now as a result of that procedure. Also a general thickening of the breast tissue of the same breast. It does not change with my cycle. I have noticed it for some months now. But it wasn't a lump so I didn't worry or mention it. My local surgeon said that we need to follow the information that we know, right now. And that is the LCIS. These new symptoms don't apply to that. He also assures me that the imaging would have picked up something. I have made sure that the u of c team knows about both of these symptoms.
I'm really hoping that the u of c team is perceptive and hadn't put me into the "just LCIS" box. Now that I know that a thickening of the breast tissue is worrisome, and I have bloody discharge, I feel like the LCIS (which was an incidental finding) really us just incidental. And I'm trying to tell my team that there is a greater issue, but they can't see the forest because they are focusing on the trees.
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"And I'm trying to tell my team that there is a greater issue, but they can't see the forest because they are focusing on the trees"
I'm feeling this too, My genes tested came back negative, but I still have BC and still have a family history of cancer including losing my mother and her older brother to it. And it seems like every time I have a test for my BC, the results come back worse than the BS and other professionals think they will.
I do have a consult scheduled with another cancer facility in my area, at least to get a 2nd opinion. And I will bring my family's cancer pedigree with me to that as well, thanks for mentioning this.
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Well, my interdisciplinary team second opinion says a prophylactic double mastectomy is acceptable, but they usually recommend trying surveillance first.
BUT, for me, they are withholding long term recommendations at the moment. My MRI does not explain the large hard area and bloody nipple discharge (both confirmed by the breast surgeon), so they want me to come back in three months to get looked at again.
Problem is insurance won't cover another consult. And none of my local doctors found the hard area (they were really useless breast exams). And when I mentioned it after I found out about the LCIS (because I was only looking for a lump and this is a large hard area that's not a lump) I was brushed off. So who do I follow up with? The team that doesn't even know there could be a problem? The team that can't compare change in 3 months to anything?
This is why I have no confidence in increased surveillance. You need a team that is actually looking. And insurance makes it difficult to have that team.
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I hear you. I am having trouble getting insurance to cover surveillance too. I will need to pay oop for a full breast ultrasound. Being sick is ridiculously expensive .
The nipple bleeding would be a concern to me. It was a precursor to BC for a close friend but I'm not sure what kind of BC it is
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I was thinking breast ultrasound in your case too, especially if you have a hard area in the breast. Can you ask a Dr from your recent consult to give you a script for that so hopefully your insurance would pay for it?
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I have been struggling with what to do. And three things occurred to me this morning:
First, when you are on the high risk breast cancer surveillance train, there are only two ways off - when they find the cancer they have been looking for (because that's the point of it - they suspect you will have cancer, they just don't know when), OR a prophylactic double mastectomy.
Second, the longer I am on the high risk surveillance train, the more likely they will find cancer, because your risk goes up for a lifetime. It's not like 5 years of clean mammos and MRIs will give me a sense of peace. There will never be a reduction of risk in those years. In fact it only goes up. My lifetime risk is 67%.
And finally, there will never be a guarantee that the screening will catch anything early. I have dense breasts that are difficult to image. That's why they want me back in 3 months. Imaging doesn't show anything, but there is clearly something going on in my breast.
The imaging and call backs and biopsies...every 3-6 months. It's not good for my family. My 10 year old daughter actually cried when she heard I had to have a follow-up in 3 months. Honestly I cried too. I have 6 children. The youngest is 18 months. I need to be able to get on with life. Not 3-6 months at a time.
Last week I asked my surgeon if a prophylactic mastectomy is overkill in my case. He told me it is not. They just want you to try the surveillance first to see if you can put up with the stress. Because you can always choose the surgery later.
I'm hopping off the high risk surveillance train. I'm opting for the double mastectomy. Take them off. I don't need them. I have a family to raise and this has been a huge strain. I still have to see my OBGYN about ovarian cancer screening. Trying to get the cancer before it gets you.
In ten to twenty years, they will probably have different tests and methods of surveillance and risk reduction for my daughters. But not yet. And I'm not gambling that I will still be cancer free in that time.
I have an appointment with my surgeon today at 3:30. -
Surgery is scheduled for May 25th. The risk calculation of 67% was the thing that turned the tide. The surgeon went from saying surgery is not necessary, to agreeing that it made sense. I feel such a sense of relief.
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I am so glad you have such clarity about this. Your decision makes sense to me in terms of both physical and mental health. You will get through it, and then be able to focus on caring for and enjoying your family.
(I hope they don't push you to do reconstruction if you would rather skip the additional surgery and recovery.)
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"The imaging and call backs and biopsies...every 3-6 months. It's not good for my family. My 10 year old daughter actually cried when she heard I had to have a follow-up in 3 months. Honestly I cried too. I have 6 children. The youngest is 18 months. I need to be able to get on with life. Not 3-6 months at a time. "
I've been going thru this for the past two months since my original diagnosis, with tests and biopsies to make sure there's nothing else going on. So far those further tests have come out ok, but the stress of having this much unknown even for two months has caused my anxiety levels to absolutely sky rocket. (I also have dense breasts and had an area that the mammos didn't pick up and only showed on a breast MRI. That biopsy did turn out to be benign, but still).
And the stress this has also put on my kids, it was starting to drive them away from me. I still have a 2nd opinion consult next week with another cancer center,
If I may ask, how did you (or your Drs) come up with a 67% risk factor? especially since your genetic testing came back negative.
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Sure. It is the IBIS Risk Evaluation. It used both material and paternal history, going back two generations. The model actually says there is only a 0.2% that I would be BRCA positive. Which I thought was interesting.
The geneticist I saw did not calculate my risk, but she did say that the 25 genes tested only account for 50% of hereditary breast cancers.
A friend of mine recently told me that her older sister had been doing high risk surveillance for about 20 years and two years ago opted for a BMX. It was right after their younger sister died from BC, so I'm sure that impacted her decision. I'm going to talk to her to get a very long term perspective.
The watching and waiting is very difficult. Especially when you have young children.
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hi, just going to chime in here, i was on the fence of a prophylactic because I tested negative for 7 genes and they stopped there. Then I started noticing the same exact thickening I had in my other breast for 5 years before I found a "lump".
After testing on the healthy breast everything was negative and they kept saying it was fine despite my report of changes.
However, on my initial diagnosis all they could see was calcifications on the lump I found, but I ended up having 6 other tumors, largest was 3.2cm that folded into my muscle during examinations.
So, I took the other off against the surgeons advice and once I had the surgery my plastics guy and onco said they agreed with my decision. I never looked back! My body means I have to be my own advocate. My Aunt was just diagnosed last month and I'm a Xerox copy of her, I definitely think it's hereditary.
hope that helps!
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"The geneticist I saw did not calculate my risk, but she did say that the 25 genes tested only account for 50% of hereditary breast cancers."
My geneticist did not calculate my risk either. In fact once my genetic testing came back negative (I had 21 gene panel testing pretty similar to yours) her attitude seemed to be I was good to go. Um, except that family history...which is one reason I am taking the initiative to keep looking into this aspect of things for myself.
A couple more questions if I may. 1) When she said that the 25 genes tested only account for 50%, did she mean there were genes they could have tested you for but didn't that time? Or they've only discovered gene mutations for 50% of hereditary breast cancers.?
2) For the IBIS Risk Evaluation did you do that yourself or with a Dr? if so which type of Dr?
Thanks again. I really appreciate being able to have support for this kind of thing.
Jen
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Myra, thank you for your story. I have a suspicious thickening and bloody discharge. I'm just not waiting until it registers on the imaging. You are so right about being your own advocate.
Jen, the IBIS risk evaluation was done by my breast surgeon second opinion at university of Chicago. She actually did not advocate that I have a prophylactic mastectomy, although she did say it is an available option. She stated to try surveillance first. But then in the same breath recommended a three month instead of 6 month follow up because of the suspicious area. I was really glad to see a number assiociated with my risk. The geneticist warned me up front that 50% of folks with an obvious family history come back negative. They are looking for other genes, but also think some of it may be changes across several genes.
Hope that helps
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ShetlandPony, I strait away said no reconstruction and no one has pushed me. I was laughing with my aunt the other day (who was just diagnosed with ALH, but has very suspicious clusters of calcification so that they want to excise more completely) that 2/3 of the women in my family have had mastectomies with no reconstruction. Going flat is kind if a normal thing
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I guess that's one of those "you know you're a cancer patient when" things. Good for you on being able to deal with it so well, and I'm glad you have a supportive family.
Jenn, Myra, and the others, I'm glad you are advocating for yourselves and seeking answers! Best wishes to all.
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