Options with family history of breast cancer

[grey12]

Hi!

Disclaimer: I'm not at an age or situation (currently breastfeeding!) to make any major decisions at the moment. However, I think I need to start looking at my options.

Anyways, I have an extensive family history of breast cancer. I'm getting regular private checks (ultrasounds), but that's it.

I wanted to ask about, if you have been in my position, what did you consider and what did you ended up doing?

I am thinking of the possibility of complete mastectomy. However, I heard something that scared me..... That may be completely false, complete misinformation!!!! If you know the truth, let me know that if they leave a tiny bit of breast tissue behind that little bit of tissue can get cancer and more quickly spread to other tissues

Also, could you put implants? How does that work? What about the nipples?

Any other options I need to research about?

Thank you

Hi, I have recently been discovered I am a BRCA2 carrier. Have you approached your GP to see if you can get any genetic testing? Then you can be sure of the particular genetics issue you are dealing with, and get support from appropriate medical professionals on your best plan of action based on the actual risk. There is a good leaflet on Macmillan which shows all the options for masectomy and breast reconstruction - understanding risk reducing breast surgery

You can ask to have a genetic test for a panel of gene mutations that give a predisposition. You can also get breast MRI which is what women at high risk of cancer get instead of the mammogram and ultrasound.

NHS thinks the risks aren't high right now because everyone was over 40 (I'm in my mid 30s) so it offers nothing until I'm 40 🤷🏻‍♀️ I had been advised in another country to do regular US, especially because I have a "fibrous" breast tissue so it's difficult for me to check myself.

I am considering genetic testing. My mum did some quite a while ago and didn't show anything. My cousin, who had cancer more recently, didn't want to do it.

I'll check those links. Thank you for the suggestion

In the US it’s usually an annual mammogram at age 40 to 65.

The NHS only does high risk starting at age 40 because they’ve found that twenty years of mammograms increases breast cancer risk (xrays which is what mammograms are cause cancer). Ultrasounds also cause cancer. Don’t know about MRIs. But anyway, for low risk woman it’s better to limit mammogram exposure. High risk women, it’s better to monitor even though the monitoring itself can increase risk a little bit.

I agree get genetic testing so you know what cards you have actually been dealt and go from there.

I have breast cancer but with no family history. Even though I got diagnosed at 48 my daughter will not be eligible on the NHS for any extra screening.

In your situation I would do the private checks for breast cancer every year or so, ultrasounds do not cause cancer nor do MRIs. MRI is the most thorough check but more expensive but some cancer like lobular especially at early stage can be missed on mammograms and ultrasounds but appear on MRIs.

Re mastectomy this outlines the current views:

www.mayoclinic.org/tests-procedures/mastectomy/in-depth/prophylactic-mastectomy/art-20047221#:~:text=For%20women%20who%20have%20already,by%2090%20to%2095%20percent.

In summary its worth considering doing with a family history so worth getting genetic testing for. Though one patients with me at hospital said their surgeons at hospital said if it comes back with a mastectomy it can come back in the chest wall and so they are careful not to do them too easily but this can be discussed with a surgeon and get their opinion. Its often a balance of risks with breast cancer and going for the least worst option. It may well be worth you going private to discuss this with a breast surgeon who can advise you assuming you cannot get via NHS.

I needed a mastectomy and could only have delayed reconstruction due to staff shortages so will have it in a few years but my understanding is you can have either implants or surgery reconstruction like DIEP. Implants I think need replacing every so often and there can be issues if you've had radiotherapy but should be fine for your situation.

You need to consider the actual risk. I would suggest genetic testing followed by genetic counselling (I was very impressed with the person I spoke to - but any decision is yours alone). Not sure who would perform a mastectomy on you in the U.K. without you having undergone all relevant tests?

Like I mentioned in my first post this isn't something I'm considering doing right now actually I'm BF right as I write this 😂

But as I near 40, I need to consider the risks. All women from my mum's family had it 🤷🏻‍♀️ it seems to me a question of when rather than if 😔

I need to start researching so I know in a few years what to do. I don't think I can delay any decisions much later than 45.... my cousin had it at 49, I think. It's getting earlier and earlier.

Thanks for all the suggestions

Oh! And yes, genetic testing will be the first

My great grandma and grandma and mum had breast cancer
Although my mum doesn't have that brca gene
I have decided against taking that tamoxifen (which I do have the option of taking I believe from age 35)
I am just going to go with getting a mammogram from age 40 which I've been told I can do

If you have close female family with pre menopausal breast cancer it is worth getting gene testing. Post menopausal really is ‘luck of the draw’.

But there are three things that women can do to help reduce risk, regardless of family history. Unfortunately they require long term effort: regular exercise, eating healthily / maintaining a healthy weight, reducing alcohol consumption to a minimum. Breastfeeding is also a risk mitigant -well done on that as I know it’s not easy to get established.

If you are desperate enough to want a mastectomy I would also consider counselling to ensure you are aware of pros and cons of doing this.

Has your mum had it? I have cousins who have been tested and do have the BRCA gene. Some have died, others have had full mastectomies (after being tested). But my GP said I wasn't at any more significant risk as my mother never had it and didn't offer testing.

I know a lot of people here are saying get tested for the gene
But really, that's not for everyone
For example are you ok with knowing you've got the gene if you did find out you've got it? Some people wouldn't want to know that and have it at the back of their mind all the time.
I just think it's important to think about this whichever way it could go

I've had breast cancer, no family history, diagnosed age 46. I asked my oncologist about any inherited risk for my DD who is 12yo. Currently, she would qualify from age 40 for screening. Obviously, I didn't qualify for NHS genetic testing but she could refer me privately. In your shoes, I would start with genetic testing and take it from there. Have you looked on the Breast Cancer Now website? They may have some useful information.
You ask about tissue remaining after mastectomy. The clinical oncologist I spoke to prior to radiotherapy did say some breast tissue can be left behind but it's a tiny amount. (Sorry, I forget all the details as there was a lot to take in). I've not heard that any cancer would spread more quickly in that remaining tissue.

I would investigate the cost of the genetic testing.

The cost of genetic testing will depend on how many genes one is investigating.
Breast cancer risk is increased if one of these 13 genes has a mutation in them ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 . It is important to clarify one does not have the risk if you have the gene, everyone has them, it is when they are mutated and unable to do their protective work that risk is increased. Every one of these genes produce a protein, that has a tumour suppressor function, helps repair DNA damage or prevent cells to divide too quickly or too much.

This correction is important because it provides an answer to @purpleme12 's question about what to do with the results. The answer being to change lifestyle and adopt a cancer preventative diet and habits, increased screening for early detection, enter a prophylactic oncology program, ... The action of repairing DNA errors, down regulating cellular pathways is never exclusive to one gene, one protein, one enzyme. If one is deficient there is good of intervention at other levels.

I work in genetic engineering and gene expression and methylation is way more complicated than having a mutation. There is quite a lot you can control. Many with any of these mutation do NOT develop cancer and many without them will develop cancer. Diet and cellular microenvironment such as inflammation, have a huge role in cancer development.

Private labs that offer breast panel testing are Natera, Invitae, Quest Diagnostics, Bio-Reference Laboratories, Ambry Genetics and Progenity. Invitae is probably the cheapest and most popular in healthcare centre and research labs and offers testing to private citizens at US$250 per gene and a one-off $125 genetic consultation fee with a genetic counsellor. For most providers, you just have to spit in a tube. Blood is preferred but they offer saliva as an alternative.
@Loopytiles quite affordable compared to what it was just two years ago, and will go even cheaper in the future.

@grey12 If you are very concerned about breast cancer , concerned enough to contemplate prophylactic mastectomy, try to get a referral for a genetic counsellor, if you can't with the NHS, consider getting the same consultation with a genetic lab provider and they will be able to advise you on which gene to test. Many of the cancer inducing gene mutations have additional manifestations so the lab should be able to cross them off with simple questions.
In the unlikely case you are positive for a mutation, there are still actions to consider, six months interval breast MRI and the LIBRE (Lifestyle intervention for BREast cancer) program promoted in several countries link.springer.com/article/10.1007/s10549-021-06400-7 and even drugs beyond tamoxifen such as mTOR inhibitors once a week www.ncbi.nlm.nih.gov/pmc/articles/PMC5061784/

Cancer is extremely complex and its complexity is at the same time your opportunity. It is a cascade event with several steps in which to intervene.

@MatchaTea wow! Thanks so much for the in-depth response! Really appreciated. I am definitely considering testing and will look into those options you suggested.

The idea of the mastectomy was to try avoiding cancer..... Regular testing just shows it early. I'm not too fussed about the surgery and don't care that much about appearances (though I would prefer implants) but going through the cancer diagnosis, chemo, radio, wtv............ it's tough......

My mum had it (and great grandmother, grandmother, grandmother's sister, mum's cousin, and my cousin, uncle had lung cancer who knows if it started as breast cancer!). Mum had genetic test for BRAC genes but was negative.

@purpleme12 thanks for the concern Tbh with family history it's already something I feel is in my future. I think the genetic test would just confirm and light a fire in my bottom to be more proactive.

I am a sweet tooth..... with generally decent-ish self control. At least I don't drink or smoke at all but no proper exercise since I became a mum.... don't have the chance

You are absolutely right preventing cancer is key. If you mother was negative for BRCA1 and BRCA2, you probably don't have the mutations yourself and I wouldn't waste money on these two.

However this isn't a quest I would recommend you do on your own. You need guidance and doctors in real life, not the internet. You have a good argument to request an appointment with a genetic counsellor, and preferably a geneticist as well. How old and how heavy were your family members when they were diagnosed? Postmenopausal women with a high BMI have a higher risk of cancer (58% if BMI >35) .
I would make an appointment with your GP and bring a list of your family members, and if possible at what age they got what cancer, and their survival if known. Be very businesslike . Not emotional. Say that you want a referral to a genetic counsellor about excessive cancer cases in your family.

I also wanted to tell you that we are currently studying a new, revolutionary technique in our battle with cancer that does not involve surgery, chemo or radiation. It is gene therapy.

We all know about CRISPR which has opened the door to the mRNA vaccine for COVID. Well CRISPR is opening the door to new, non invasive, incredible cancer treatment. We are not there yet, but a 2018 trial in China showed that in patients with cancer - so not in a Petri dish , not in animals but in humans - we can knock out a gene and insert targeted genes that will attack a specific cancer. The patients with very advanced lung cancer were not cured, but we know the techniques is safe. Organ transplants weren't successful straight away. It took years to get from a few weeks/months survival to where we are today. Early days, but promising days. Not only, we are studying how to add those genes I listed above, the tumours suppressor genes. Take the P53 gene, CRISPR is studying how to add an extra copy of the gene to increase our protection. (Humans have one copy, elephants have 20 copies, we get a lot of cancer, elephants almost never. ) . Consider it a new type of cancer vaccine if you want. Gene therapy is a true revolution.

What I am trying to say is that we are changing our approach to cancer and it brings hope to many, including those with family predisposition. Not always is a gene identified. Families share genes but also habits, lifestyle. Cancer is tricky. Diet plays a huge role. We know from zoo data that 40% of carnivore animals die of cancer. They have never eaten a single teaspoon of sugar. Sugar is bad, but so is meat every day, or worse, several times a day.

Good on you for wanting to investigate your options on all fronts and being proactive. You don't need a positive genetic testing for that. Look at your baby. There is your motivation.... but not your excuse to not do proper exercise . May I suggest a walk pushing the pram to your local library to borrow anticancer lifestyle books. Plenty of reputable titles.

@MatchaTea thanks for the update :)

You're right, things are always evolving. I'm 36 now so still a few years from my 40s.

I did talk to GP and sent off all information, but they said to come back when I'm 40 🤷🏻‍♀️ I had had a genetic consultation back in Portugal and they had advised at the time to do yearly US until 40.

I'm a size 8/10 and I do walk plenty! but I mean I stopped going to the gym, running, zumba, wtv...

No one in the family was very big. Maybe a 12/14 my DGM at tops? My mum was always skinny! Maybe a bit of meat?... in my country every meal comes with meat/chicken/fish.... but I do have a more vegetarian based diet nowadays. As far as I know everyone was premenopausal, about 50s.

I'm definitely considering taking the genetic test. But maybe delay the consultation for a couple of years so I get more updated advise from doctors since it seems they are perfectly happy for me to wait until 40