Just diagnosed question about genetics

Pico77

my doctor wants me to get genetics testing dine and I'm not sure why it'd necessary she went on vacation but had a plan made before she left, I have ni breast cancer in family but could my age factor it

Elephant

I also did not have any breast cancer in the family, but both my BS and MO wanted me to get the genetics testing done.

ShetlandPony

Besides a family history of breast cancer, here are some other situations that could make a doctor recommend genetic testing: Premenopausal breast cancer, unknown or a small number of family members (hard to see any pattern), several cancers (not necessarily breast cancer) in the same family. This last is because there are some genetic mutations that confer a higher risk of several kinds of cancer, including breast. (It’s not just BRCA.) The latest thinking is that more breast cancer patients should have access to testing. In fact The American Society of Breast Surgeons in their official statement “Consensus Guideline on Genetic Testing for Hereditary Breast Cancer” 2019, says:

“Genetic testing should be made available to all patients with a personal history of breast cancer. Recent data support that genetic testing should be offered to each patient with breast cancer (newly diagnosed or with a personal history). If genetic testing is performed, such testing should include BRCA1/BRCA2 and PALB2, with other genes as appropriate for the clinical scenario and family history. For patients with newly diagnosed breast cancer, identification of a mutation may impact local treatment recommendations (surgery and potentially radiation) and systemic therapy. Additionally, family members may subsequently be offered testing and tailored risk reduction strategies.”

jessie123

I wanted to have the testing just out of curiosity. I did the 8 gene test and all was negative. I wanted to know what caused my cancer and I thought - well maybe it's a gene. Ruled that out.

Pico77

the lady I talked to said it was because of my age and no history of breast cancer, but the problem is that its big and very painful like painful painful I can't go months like this until they figure out the game plan, I see oncologist in the 30th, genetics tommorow, then MRI 28th

vlnrph

Jessie, if your genetic counselor thought that a limited panel only looking at eight actionable possibilities was appropriate given your history, that’s OK. However, there are many more than that which can be involved with breast and other cancers. So, I would not say that you have ruled out a mutation being a factor.

Perhaps your physician selected the test you took. Unfortunately, a busy oncologist cannot adequately keep up with all the developments in the field. Should someone else in your family be diagnosed in the future, you may want to revisit this issue.

For Pico, hopefully you will get some relief soon. On occasion, gene analysis will help determine treatment. In other words, it could tip the balance in favor of mastectomy especially when radiation can then be avoided. It sounds like your team is taking all the steps needed to ensure a favorable outcome!

Salamandra

It was explained to me by a genetic counselor that the genes they can rule out are big known genetic mutations. But just because you don't have them, doesn't mean that genetics plays no role. She told me that there are lots of other genes that they are still studying, that in certain combination or in certain situations, could also have a strong impact on breast cancer. Who knows what we'll know in 10, 20, 30 years...

Mymomsgirl

Pico I had genetic testing done, and even though I have family history I went into from the perspective if I could find out information to help me make an informed decision and maybe avoid future surgery then I would go that route. I had decided if any of the 9 high risk genes came back high risk then I would do a double mastectomy. By focusing on the 9 genes we could get the results back quicker, I think it was 10-12 days. Thankfully they came back with a minor mutation indicating an elevated risk for colon cancer versus breast cancer. Afterwards we tested the other 38 genes for BC and those came back with only one small mutation for and elevated risk of colon cancer. Needless to say after things settle down a little it is recommended that I go for a colonoscopy.

Do you have the make up of your tumor from the biopsy? Is it ER/PR positive? What is the Her2? Everyone is different and you have to dig into your personal situation. I think for me what freaked everyone out was that my mom and I were 2 months apart in age from our initial diagnosis and everyone question how could this be.

Good luck, this is a great place to ask questions.

mom2bunky

I also had it. My mother died of cancer, and while we never learned the nexus (it was everywhere by the time she felt ill), my breast surgeon said that cancer rarely migrates TO the breast, so we're going with it was breast cancer. We'll never know. This was over 20 years ago. My test was negative. I did it for two reasons, I had decided on lumpectomy/radiation and a positive test would have changed my mind and I'd have had a BMX. I also did it because i have two young nieces who would really need to know about it, as well as a son who would also have a benefit to knowing. I was lucky, my results came in a couple of weeks before my surgery, so we knew we didn't need to change the plan.

It's certainly worth doing. Whether it's worth delaying treatment for is a personal decision. If you're planning on a BMX anyway, then I suppose you could wait and do the genetcis afterward. A point to discuss with your doctor for sure.