Confused about genetics testing, treatment, risk of second recurrence
Hi all. I'm hoping someone can share some experience or insight with genetics testing and how it may or may not have influenced your treatment decision. I'm currently waiting for genetics results. They're testing for the BRCA 1 and 2 and other genes with possible mutations. I was asked to get genetics testing and told that it might result in a different recommendation for surgery. Currently I'm scheduled for a lumpectomy and lymph node removal, followed by radiation and medication therapy, due to my recent diagnosis of stage 1 ER positive breast cancer. I'm 57 years old.
The surgeon said I needed genetics testing due to my mother having breast cancer and passing from it in her 30's, and my sister having ovarian cancer in her 60's (she's doing fine), and said if genetics are positive, she'd make a different recommendation for surgery but that we'd discuss that when the results came in, if needed. It was presented to me as just another test I needed to get done.
A week later I met with oncology and was told that if the genetics are positive, I'd be having a bi-lateral mastectomy. This was a total shock. I called the surgeon's office and was basically told the same thing and implied I should have realized this. I'm angry at myself now for not realizing this and also at how the surgeon and the oncologist handled all this. But that aside, while I'm waiting to hear on the genetics results (waiting on this has been the hardest so far), I'm faced with considering whether a bi-lateral is something that I'd really need, given that my cancer is stage 1 and non-aggressive, and treatment outlook is very positive. If needed, I'll get a second opinion. But in the meantime, if anyone has any insight on this, or experience, I'm open to understanding all aspects of this. I know it's a very personal decision but hoping someone can help me figure this out, it's really appreciated.
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Sorry you have had to join us here, but very glad you have found us.
Based on you having 2 close relatives that have been dxd with breast and ovarian cancer, they want to check and see if you are carrying the BRCA genes. People who are BRCA 1 or 2 positive have a very high risk of developing these cancers. Often the recommendation is a bi-lateral mastectomy and oophorectomy for these people even if they have never been dxd. That being said, it is still a recommendation and decisions are always YOURS.
It's unfortunate that your medical team is not treating you in an appropriate caring manner. When you are dxd, there is so much information being thrown at you it is often confusing and they should NOT be making assumptions that you understand all of this. Even though you have relatives that have been dxd, that is not a sure thing that you are carrying the genes. You need to wait for the results to determine that. I have been dxd twice and had gene testing which found nothing.
The genetic testing is a test that should be done just so you have all of the information you need to make a decision for yourself for the best treatment for you. If the testing does come back that you are carrying genes that make you a higher risk (either BRACA or others), I would hope they would recommend you talking to a genetics counselor. They are the best people to give you information about your risks. If you can't find a genetic counselor, I would at least want to find a medical person who does a better job explaining things. Since you are Stage 1, this is not an emergency. You have time to gain some understanding and get all of your questions answered.
"Waiting" on this journey is truly one of the most difficult parts. We've all been there at some point. It always feels better once you have a plan in place. Try and distract yourself in the meantime. Do some things that you really enjoy.
We are here for you. Take Care.
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Hi @stitch.happy and welcome again to you!
As @mandy23 said, we hate that you have to be here, but are so glad you've found us. As you can already see, our community is a wonderful source of advice, information, encouragement, and support — we're all here for you!
Mandy23's post is very accurate — if you test positive for a genetic mutation, it means your risk of a recurrence of breast cancer (or ovarian cancer) is increased significantly, which is why a double mastectomy and/or oopherectomy is usually recommended, to help make that risk as low as possible.
Here are some resources you might find helpful in understanding:
- Genetic Test Results: BRCA Positive, Negative, or Uncertain
- Genetics, Genetic Testing, and Breast Cancer: Part 1 of 3 part series
We, too, are so sorry for the way you've been treated by your care team — you may want to consider a second opinion to find a team that you feel most comfortable with and has your back with empathy. Everything at first diagnosis is so overwhelming, as mandy23 says, but with some time and education about what you're dealing with, the path gets a little clearer and easier to handle. We're all here to help you through!
If you'd like to get some more support, we also offer virtual support groups for those going through treatment and beyond. We hope you'll consider joining us!
Please let us know how else we can help you, and any other questions you might have. You've got this!
—The Mods
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BRCA1+ here. I've been diagnosed twice (one stage 2, one stage 1) and have been treated with lumpectomy + radiation twice, plus chemo since it was triple negative. What I understand from my team is that mastectomy reduces your risk of getting another cancer, but it doesn't reduce overall survival. I can't tell you the number of times I've heard "if I were in your shoes, I'd get rid of them" (meaning BMX) but it's just not that simple. I do a lot of surveillance (which is how my second cancer was detected so early) and not everyone likes living with that anxiety.
BMX or lumpectomy- It's totally a personal choice, and yes, you should have a choice. I echo everything that's been said about working with a genetic counselor and getting a second opinion.
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I have the PALB2 mutation which puts me at an increased risk for breast and ovarian cancer. I was diagnosed with breast cancer in 2011 and had a lumpectomy, chemo, and radiation for my treatment. At the time I was diagnosed the PALB2 gene was not part of the mutation testing that was performed so I was not aware that I was a carrier. I was retested several years later and that is when I found out that I carried the gene. I am not interested in having a mastectomy so have chosen to perform extended surveillance which involves having a mammogram or an MRI every six months. I am doing well and have not had a recurrence. It is definitely your decision as to which path to follow and no assumptions should be made by any medical team. As stated above by others, be sure to consult a genetic counselor about your options. BTW, I did have an oophorectomy but that was prior to my breast cancer diagnosis and knowledge that I carried the PALB2 gene. Take care and just be aware that you do have options and ultimately any decisions should be yours to make.
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Hi @mandy23,
Thanks for this information, it help me to understand. I appreciate the reinforcement that the decision is always mine, I felt this past week that the decision was being made for me, and that's not ok. Nope. Thanks for sharing your experience with testing and the your suggestions, I really appreciate it and glad that I found this group right away.
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@moderators Thanks so much for the links to all this information, it's so helpful and I appreciate the direction. I plan to join a virtual group too. So glad I found this group right away, I know I need the support and I hope I can help support others along the way. Yes, I've got this!
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@kks_rd Thank you for sharing your experience. You echoed what I'm thinking, that it's not that simple. So much to consider. I really appreciate your input.
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