Prophylactic Mastectomy in a queer/ trans person

Hello Jay! Just thought I'd say Hi and welcome you! I am not aware of anyone else here on the Forum who has exactly the same situation as you, but there are many, many women here who have undergone the surgery you speak of and are proudly Flat and Fabulous! Many don't feel the need to reconstruct and although it is a very personal thing, many don't suffer many emotional issues post surgery either.  

You have quite a family history there, so I can see why you're considering this from a health perspective and I can see why having a flat chest would be your preference. I hope it all works out well for you.

This is a great place to seek support and ask questions, pretty much anything goes here too, so please be assured that you can ask anything.

The idea of the surgery is a bit scary, but you will find that most will tell you it was not at all like they expected. I am a Uni, just one breast removed and I knew reconstruction was definitely not for me. I was very surprised how well the surgery went for me. I was expecting a lot of pain, which didn't happen, I didn't need any pain meds after the surgery or when I went home. I was walking the halls chatting and having coffee with the nursing staff all night, after my operation and I was allowed home the morning after. I even went to a Mall to do some shopping on the way home! I had a broken toe at the same time and it gave me more trouble than the UMx!

I am sure there will be others along to share their experiences with you. I wish you all the very best and look forward to seeing you on the boards here. There are lots of threads, if you search, about what to expect from the surgery, even what to take to the Hospital and how to manage when you get home.

Don't have any experience with your situation, but I noticed that you have several relatives with ovarian cancer as well as breast.   Are you going to have genetic testing to see about the BRCA gene?   Even if you have already decided to have the mastectomy, having that information would be useful so you can find out your risk of ovarian cancer as well.

Good luck with your journey!

Not trans either...had bilateral mastectomy and no recon and had ZERO pain.

Angelina Jolie had proph. surgery for the reasons you mentioned...to reduce risk.

My only comments about the surgery ---and this was for me...the side with the cancer is sort of concave; trying to remove as much breast tissue as is possible, but nothing is 100%. The left (no cancer) is a little less concave, but still not "a normal male chest" in appearance.  If you keep your areola/nipples, that is also a cancer target, so not sure if they plan to remove that and you would tattoo nipples for appearance.  New surgery can leave you sensation if you keep them, but again, less reduction in cancer risk.

Best to you and success on your journey!

Hi Jay, I'll also put a word in for BRCA testing if you haven't done it yet.

I'm not trans either, but I've not done reconstruction and am totally flat. You should look into whether you want to (or can) keep your nipples. Although I'm sure there are plastic surgeons who do FTM mastectomies, these are almost never for breast cancer prophylaxis, so you'll probably want to look into whether your breast surgeon can work with a plastic surgeon to get the best possible flat look that is oncologically protective. Check out the forum for no recon, as I think someone was inquiring about a MX without recon but keeping nipples. I mention this because I doubt most plastic surgeons who do gender reassignment surgeries are necessarily careful about removing all the breast tissue, as some projection is desired even on a "male" chest. And most breast surgeons are usually not being asked to spare nipples when there's no recon planned. (I asked for the "10 yr old boy" look-- no extra skin at all)

A good friend of mine had a prophy double MX a few years ago because of family history (incl ovarian cancer) and while not trans, she is a lesbian, and I think at least in outward appearance has had less change in feelings of physical identity than I have (I typically wear a bra with pads, though no forms). She definitely identifies as female but is pretty butch and has very short hair and looks fairly androgynous when she's not in her office clothes. She was large chested before, and I do think there was some relief beyond the cancer worries.

Good luck, and do your homework on surgeons.

Hi.

I am a MTF transwoman. I have been on estrogen for 15-20 years.

Unfortunately, I have been diagnosed with dense breasts and have a very strong history of family breast cancer (my maternal grandmother had a double mastectomy 10 years apart, my mother had a single mastectomy in her late 40s, and my sister had a mastectomy in her early 50s). Additionally I have a family history of other glandular cancers.

I now have an unspecified NBN gene mutation. My genetic counselors is recommending that I prophylactic mastectomy because of my family history and dense breasts and being on estrogen. Are these sufficient risk factors to justify such a surgery, without a specific gene mutation?

Of course, she is also recommending reconstructive surgery, too.

Lyndsey

Hi Lyndsey:

Saw your post here near the end of the thread. This is not an easy question even with genes that are really well-characterized, and it is even harder for the less characterized genes, like NBN.

I've been contemplating your question, and have three questions for you.

(1) Do you know what company provided the genetic test, and did you receive a copy of their reporting materials? I am not asking for a copy--I just want to be sure you have a copy for yourself.

(2) May I ask how old you are? (That affects how much risk you have already incurred and safely navigated).

(3) Lastly, I am not familiar with the term "unspecified" mutation in gene X.

Did your genetic counselor explain to you what that term means? Do you know if it has a meaning that is the same or different from a "variant of unknown significance" (also referred to as "unclassified variant" or "variant of uncertain significance") per the definition below?

Allelic variant of unknown significance

Synonym(s):

unclassified variant

variant of uncertain significance

VUS

Definition(s):

An alteration in the normal sequence of a gene, the significance of which is unclear until further study of the genotype and corresponding phenotype in a sufficiently large population; complete gene sequencing often identifies numerous (sometimes hundreds) allelic variants for a given gene.

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

A variation in a genetic sequence whose association with disease risk is unknown. Also called variant of uncertain significance, unclassified variant, and VUS.

Definition from: National Cancer Institute dictionary

BarredOwl

--------------

Age 52 at diagnosis - Bilateral breast cancer - Stage IA IDC; BRCA result: no deleterious mutation

Bilateral mastectomy and SNB without reconstruction 9/2013

Dx Right: ER+PR+ DCIS (5+ cm) with IDC (1.5 mm) and micro-invasion < 1 mm; Grade 2 (IDC); 0/4 nodes.

Dx Left: ER+PR+ DCIS (5+ cm); Grade 2 (majority) and grade 3; isolated tumor cells in 1/1 nodes (pN0i+(sn)).

Hi:

Dear Lyndsey:

Sorry in advance for this giant post, which may discuss things you already understand.

I should say at the outset that this is a very personal decision. The process involves understanding personal risk in light of possible uncertainties in the risk determination, consideration of possible options and associated risks, and then a personal risk/benefit analysis to reach a decision. This may take you some time.

Please note that I am just a layperson. There may be errors in my understanding. My comments are not medical advice. They are only intended to provide general background, share some information I found, highlight some things, and maybe help you frame additional questions for your healthcare providers.

I understand you had an "Invitae" test of 20+ potential gene mutations, which found an NBN gene mutation that is designated by Invitae as a Variant of Unknown Significance ("VUS"). NBN mutations and their impact are much less well-characterized than BRCA mutations.

Your genetic counselor has recommended a prophylactic bilateral mastectomy with reconstruction, in view of your family history, dense breasts, and being on estrogen. In addition to a formal risk assessment, this recommendation might also reflect her perception of your risk tolerance, the importance of having breasts to you, and a possible medical need or preference for continued estrogen treatment (sorry, I am quite ignorant in this area), etc.

It is possible that your risk tolerance and preferences might evolve as you gain a better understanding of your personal level of risk, the implications (or lack thereof) of having a VUS, and/or your risk reduction options.

Here I will just say that one of my providers was somehow under the impression that I wanted to do everything I could possibly do to reduce my risk of recurrence (even single digit risks). When I clarified that this was not my view, I got different advice.

You may wish to follow up with your counselor and/or review any documentation your received from her to better understand how she assessed your personal risk, and what she factored in to her advice. I also recommend obtaining a second opinion, preferably from a center of excellence, because (i) your status as a transwoman may be a specialized case; (ii) NBN is a less well-characterized gene; and (iii) the recommendation for a prophylactic bilateral mastectomy ("PBM"), which is a big step.

A second opinion will provide a second review of your test results, medical and family history, a discussion of your options, and an independent recommendation, which may be the same or different than the one you got (in which case, you would definitely want to know that). You will be better aquainted with the terminology, and may be better equipped to understand the advice you receive. Providers explain things differently and some explain things better than others. It is a big decision and merits a good deal of due diligence. The second opinion process will make you better informed and may help you to have more confidence in your decision-making. It can sometimes reduce second-guessing yourself down-stream, or regrets if you choose a path yet get cancer anyway (which can happen to anyone).

One thing to keep in mind as you review things, is that most studies of breast cancer are conducted in populations of women (reflecting their risk factors, including things like early onset of menarche (~11 yrs or less), late menopause (average age is around 51-52), late first birth, breastfeeding). Thus, risk estimates based on populations of women might be less informative for you as an MTF transwoman. For example, your risk may (or might not) differ from having commenced estrogen in your late thirties/early forties, yet possibly continuing such treatment beyond the average age of menopause.

For example, according to estimates from the American Cancer Society, women have an average lifetime risk of 12.33% (1 in 8 or 100 divided by 12.33) for breast cancer, whereas men have a lifetime risk of 0.13% (1 in 769 or 100 divided by 0.13). As you try to understand your personal risk, you may want to ask your doctors to explain their thinking about your risk, and any uncertainty that may be introduced by being a transwoman (who has taken estrogen in the past and possibly the future).

The 1 in 8 number for women may seem high as you look around the room. That is because it is a lifetime risk and the full risk has not yet been incurred by each person. Also, breast cancer incidence increases with age, as explained here:

http://www.cancer.gov/types/breast/risk-fact-sheet

Women with strong genetic predispositions due to a deleterious mutation have increased risk relative to the numbers above and are often diagnosed at younger ages. Thus, being 57 is preferable to being 30 when facing the possibility of a mutation.

Now, back to the NBN gene mutation designated by Invitae as a Variant of Unknown Significance ("VUS"). The NBN gene encodes a protein called "nibrin" which is part of a heterotrimeric complex involved in DNA repair (meaning it is one of three proteins that bind each other and work together):

http://ghr.nlm.nih.gov/gene/NBN

When there is a known deleterious or pathogenic mutation in NBN, it appears that the risk of breast cancer and prostate cancer is increased. Some other cancers may be associated with the gene (e.g., colon), although not all sources state this:

https://www.invitae.com/en/physician/condition-det...

http://ms360.myriad.com/nbn-gene-mutations/

In the above Myriad 360 link, scroll to the bottom and click to open the "additional NBN gene information".

From the chart, baseline breast cancer risk for women is 10.2% to the age of 80, and the presence of a deleterious mutation can increase this up to 30% (up to about 3 times). It is "up to" presumably because it is possible that different mutations have different impacts on risk.

However, please note the limitations on these risk estimates for NBN mutation: "Current female breast cancer and male prostate cancer risk estimates are based primarily on studies of individuals of Eastern European ancestry with this specific mutation, and may not apply to other NBN mutations or patients of other ancestries." (my emphasis)

Moreover, a "VUS" may or may not be deleterious. If it is later determined that it is not deleterious (ordinary polymorphism), it would not increase your risk of cancer.

Regarding possible risk reduction strategies, it states:

"Currently there are no widely accepted guidelines for the medical management of men and women with NBN mutations." (This is a point to confirm with your genetic counselor.)

"Currently there are no specific medical management guidelines for breast cancer risk in [NBN] mutation carriers. However, the possibility of an increased risk for breast cancer warrants consideration of individualized breast cancer risk reduction strategies, such as the modification of standard population screening recommendations by starting screening at younger ages and/or performing screenings at greater frequency."

Note that "Intensive breast cancer surveillance does not reduce the risk of developing breast cancer, but aims to improve early detection" (Domchek et al., JAMA. 2010;304(9):967-975).

In addition, the medical advice you receive "may differ from society guidelines based on a complete understanding of the patient's personal medical history, surgeries and other treatments."

For more information, see the Clinical Handbook (2014):

https://myriad-web.s3.amazonaws.com/myRisk/myRisk-...

Note the definitions of "High Risk" versus "Elevated Risk" and the classification of NBN breast and prostate as an "elevated risk".

Now for how to deal with a "VUS". From the post above, some general definitions of VUS are:

A variation in a genetic sequence whose association with disease risk is unknown. Also called variant of uncertain significance, unclassified variant, and VUS.

An alteration in the normal sequence of a gene, the significance of which is unclear until further study of the genotype and corresponding phenotype in a sufficiently large population.

I learned that different testing companies may define "VUS" differently. Therefore, you must carefully read the definition of "VUS" in the report you received.

Here is a review about management of "VUSs" published in 2013. Although the focus is on the BRCA1/2, it has useful clinical perspective and discusses how scientists are trying to reclassify VUSs to make genetic information more useful:

http://theoncologist.alphamedpress.org/content/18/...

It seems like a VUS is a pretty uniformative result for the purposes of decision-making! Some key points are:

"It is standard for clinical testing labs to report VUS, causing consternation and uncertainty for patients and providers alike. "

"A VUS result means that the laboratory interpreted the DNA alteration based on standard evidence at the time of the test and found that there was insufficient evidence to classify the alteration as either pathogenic (deleterious) or neutral. A VUS should be considered not clinically useful, and it should not be factored into decision making. This should remain true until further evidence emerges from scientific studies to shift the interpretation toward either a neutral or pathogenic interpretation. It may be easiest to proceed as if the test had not been done at all and to base medical advice on the family history or a patient's own medical presentation alone."

I read this as saying the clinician should ignore the VUS, and use only your personal medical and family history to formulate her recommendation. You may wish to confirm with your counselor whether this is still the approach taken by clinicians in 2015, and if that is what she did. You should always feel free to ask a doctor what medical guidelines they are following.

From your various posts, there is a history of cancer in your family:

(a) your maternal grandmother had a double mastectomy 10 years apart (metachronous (non-simultaneous) bilateral breast cancer);

(b) your mother had a unilateral mastectomy in her late 40s and pancreatic cancer;

(c) your sister had a mastectomy in her early 50s (unilateral disease?);

(d) some family history of other glandular cancers; and

(e) colorectal cancer (maternal grandfather and his siblings, mother, and sister); (not sure whether ". . .and sister" refers to your maternal grandfather's aunt or your sister).

Because breast cancer is so common, cases of sporadic disease can make it harder to draw conclusions. However, things like multiple, successive generations of breast cancer and bilateral disease (multiple primary cancers in the same person) can be suspicious. Younger age at diagnosis (before age 50) can be suspicious. (The age 50 risk is reflected in some screening guidelines that commence at age 50.) However, such hard lines can be a bit arbitrary. For example, I was diagnosed at age 52, but was premenopausal at the time, so that increased the suspicion in my case. Some limits on family history are that they are snap shots in time, and sometimes people are not aware of the health status of some relatives (particularly of prior generations).

My genetic counselor constructed a formal family tree, provided a written summary of her understanding of all relevant personal and family information that I provided, and an explanation of the implications. If the nature of the risk associated with your family history was not explained clearly to you, that would be an area of further inquiry, since it is part of the basis of her recommendation.

I'll include some information on "density" in a separate post.

As part of a second opinion, you could ask them to review each of the risk-reducing strategies with you, their pros and cons, and how they might be affected by continued estrogen use, if applicable. Another question is whether the risk reduction steps you are interested in would be covered by insurance. You may also wish to consult a specialist about whether your hormonal treatment could be modified in some way to reduce risk.

Also, you might want to find out whether Invitae has undertaken to provide an Amended Report in the future if your mutation is reclassifed (no longer a VUS).

I hope the information and comments above are helpful as you work to learn more and arrive at a decision that is best for you!

Don't hesitate to ask more questions, as others may have been down this road.

BarredOwl

Jay,

I am in a similar situation - high risk and considering a prophylactic double mastectomy but want an FTM (masculine chest) type of reconstruction.

I'm struggling to find people / surgeons who have combined these two surgeries. Did you go through with the surgery? Has anyone else out there gone with this type of reconstruction option?

Thank you for your help and advice!

Best, Eliza

Thank you so much for this helpful info!! Much appreciated.