family history but no known mutations

1234567891011

My mom was diagnosed around age 45 and eventually died of what was probably metastatic disease. however, she only had one sister (two brothers), and I have no female cousins. I've been tested and have no known mutations. with the way my family is structured (so few female relatives), I worry that I could be at higher risk than most models can detect. are any of you in the same boat? do you know if a prophylactic mastectomy is ever recommended for someone like me? my doctor is hesitant and prefers surveillance, but it's already so stressful and I'm only 28.

Moderators

Hi 123-

We can understand the stress and worry, it's a lot to process. We have some info on how to decide if prophylactic treatment is right for you on our main page that you might find helpful: http://www.breastcancer.org/treatment/surgery/prop....

We hope you get the information you need to make the best decision for you.

The Mods

vlnrph

What kind and when did you have testing? I assume there was competent genetic counseling in association with the negative results. If it was only forBRCA, done more than a few years ago, there is much more to consider. It might be good to schedule another consultation in order to update your situation.

I cannot imagine losing a mother so young to this beast but the FORCE organization/website probably has other women in a similar situation. They may even have a support group to attend in your area!

You are wise to come here seeking information. Hopefully, there will be help or advice available from others also.

farmerlucy

IMHO - Surveillance is probably a good idea now, especially since your mom's did not present until 45. My mom was dx at 27, me at 51, two docs have told my DD mammos starting at 35.

I would find out your breast density to see if screening w MRI is warranted.

I did high risk screening for 20 years. It is worrisome and expensive. I'm sorry you have to face this.

If you were my daughter I would tell you to be vigilant, but don't let the worry about something that may or may not happen rule your life.

1234567891011

I had testing done a little over a year ago with all known mutations (at that time).

ParakeetsRule

I had testing done last month for eleven different genes and all came up negative, even though my mother and her sister have both had breast cancer. I guess we are just unlucky...

gracie22

Parakeets Rule, you are not unlucky, they just have not figured out the genes yet. There are millions like you; no specific cause like BRCA 1 or BRCA 2 or the handful of other genes that have been determined (so far) to be indicators for higher breast cancer found, yet the family has abnormally high rates of breast cancer. BRCA 1 and 2 are pretty recent discoveries, with the initial research and info provided by Dr. Mary Claire King in 1990. I loved her story as told in the public radio "The Moth" series https://themoth.org/storytellers/mary-claire-king Her painstaking work in determining why certain families had such high rates of BC paid off and led to the current testing. There are obviously other genes that have simply not been researched yet.

ParakeetsRule

Yeah, maybe. There could definitely be things they haven't discovered, I said they should do a study on us. They also said it's possible that individual people are just the first one to have a gene mutation in their family. There's no one else in our entire extended family or ancestors that we're aware of who has had breast cancer. We've also been speculating about non-gene related and environmental causes.

Philagrl

I would recommend seeing a doc at a high risk clinic at a the closest research hospital to you. I would want their advice and if you decide to screen - they can monitor you carefukky

meg2016

I have a familial cluster as well (including myself) and with a full genetic test they found one mutation but it doesn't seem related based on current research. My parents both tested negative for that mutation (but they were tested a few years ago) so the testing evolves a lot from year to year. I have been going to Dana Farber genetics and will continue to see them yearly to get any new research, possibly be retested if there are new findings. They said this field is so rapidly evolving that every year they have new information and familial clusters they follow closely.

The other discussion I had with my Oncologist is that it seems in my family we are very high hormone producers, very high levels of estrogen and progeterone. At some point (in our late 30's and early 40's) that seems to go awry and help feed cancer. So its possible it is "genetic" without being a particular gene if that makes sense?

I would definitely get MRI's as well as mammo, I was having regular mammos and mine was not found that way.

Bingle

This sounds like my situation. Two of my sisters had BC and I was recently diagnosed. Extended genetic testing panel came up negative. We also think it is due to high hormone levels since we were all diagnosed in late 40s and early 50s when perimenopause started. Mentioned this to my oncologist but she didnt think it was a likely explanation.

illimae

My mother and her sister also have breast cancer, both dxd in their 60's. I was dxd 6 months ago, stage IV at age 41. All current genetic testing came back negative, however, the geneticist stated that there could be a mutation in a combination of genes currently unknown. I was told to recommend all female blood relatives start screening at 31.