No mutations found, but?

hello all,

I am looking for some feedback. I was always told my chances are developing breast cancer was high due to my strong family history.

My mother, my only maternal aunt, and my maternal grandmother all died from met BC. Previous family history unknown

Despite , close monitoring , I was diagnosed with a stage IIIC diagnosis

I was / am advised by every oncologist I have spoken to over many years that my family most likely carries a mutation.

Simply not a coincidence....

I just got back my results from Color genetics and no mutation was found, which does not satisfy me.

And leaves me with more questions...

My Go to fabulous oncologist has retired and I am kind of at loose ends.

My gut tells me that ther are more mutations out there that are not currently included in the panels available.

I have a daughter and 2 granddaughters I am concerned about.

anyone have any thoughts on this?

Thanks

My genetics counselor said that there is obviously a genetic component in my family, but that it just hasn't been found yet. Therefore I am in some kind of registry and they will notify me if newer genes are found.

Fraternal twin passed from mets BC at 45, father died of pancreatic at 74, his brother died of colon cancer, and their mother had breast cancer in her 50's but lived to 87. I want to be like her

I agree that there is something that just hasn't been found yet. My mother and maternal aunt were both diagnosed with BC in their 60's in the last few years. My aunt was first but when my mom was too my PCP had me get a mammo, I was 39 and it came back clear. 18 months later, I found a large lump that appeared seemingly overnight, had a mammo, US and biopsy within 2 weeks, stage IV from the get go at 41. My genetic panel showed no mutations either but the genetic specialist believes that there are likely mutations ina combination of genes yet unknown. She advised I tell all female relatives to start getting screened at age 31.

I agree generally but ialso understand that it would be difficult to justify an MRI based on family history alone. At the time I had no pain, lump, anything, the original mammo was only allowed under age 40 because of the family history. I had this PCP for about 14 years so far and other than allergy meds and annual exam/blood work, I've only been sick twice, he was as shocked as I, that this happened and so quickly.

We are in a similar position. Mom, maternal aunt, paternal gr grandmother passed from premenopausal BC. No mutations for me either. My daughter is now 27, the age of earliest onset in the family. However her pcp and the lady at a Johns Hopkins said to start screening at 35. As you know screening alone is quite a burden, and I don't wish that on her before it is time. Btw high risk screening never did anything for me either. For now I counsel her to be diligent with self exams and look for breast changes. Mine was caught incidentally due to nipple bleeding. I take heart in the advancements that are being made in screening, especially the possible "liquid biopsy" that is being tested.

hi farmer Lucy,

Yes, because of my family hx, I started screening at 29. Despite being a nurse trained in oncology I was still dxed with a stage IIIC extremely aggressive tumor at age 49.

Additionally the BC appears a decade earlier with ea family member...

My daughter is being watched closely, but I am beyond worried for her... And the girls as well.

I am praying that more familial mutations are discovered

I've been researching genetic mutations and am convinced there are more out there.

lkc, are you familiar with the genome project? I can give you a website, although I haven't used it myself (yet). https://civic.genome.wustl.edu/#/home

CIVIC stands for Clinical Interpretations of Variants in Cancer and is housed by the Washington University School of Medicine. The original idea was that many people are now getting genetic info of 'unknown consequence' from multiple private companies that may or may not be sharing this info into a central database, so the consequences of those mutations remain unknown. This site is striving to be a clearinghouse for relevant info related to genetic mutations and cancer.

sounds like discrimination to me too, his father is living proof that men are also at risk. Glad to help. I'd love some feedback on how the genome site works out for you, it seems to be gaining momentum.

Ikc i have a extremely strong family history of cancer also, and literally every type of mast cancer on my moms side and different types on my dads side. I did a genetic test also because of my strong family history and it came back as unknown variant for Lynch. Which from my studying if you have that u can get cancer pretty much in all.organs including breast. I have no idea what unknown variant means though, but I was told that there are other types of genes out there that haven't been found yet. My mom had 15 brother and sisters, out of those I have 1 aunt that is still alive, my mom and then others have all passed away from cancers. So I was told that my family may have genes that havent been found yet but because none of them are alive we can't test them to see if there r any genes. Most of them passed away between 30's and late 40's. Nobody has made it out of their 50's. Im hopeful that with all the things they can do now days that they will find all the genes!!