Genetic Testing with No Family History?

AnaMaria34

Hi All,

I'm just wondering why all of my doctors have recommended genetic testing for me, including the genetic counselor. I have zero family history of anyone with any kind of cancer for as far back as we can remember (which is about 5 generations). No cancer on either side. The only reason they are recommending it is because I'm 34. I do wonder if I might be the first in my family to have a genetic mutation, but I haven't been able to find any information about non-inherited gene mutations. If the mutation happened in my body, in my life time, would that show up on this test? Would I be able to pass that on to my off spring? I suppose so, but I haven't come across the information I'm looking for. Anyway, I'd love to see if anyone has had a positive genetic test result and not had a single other person in their family with cancer. Is that you?

Thanks in advance for sharing any info with me related to this topic!

Rose882

Are you currently diagnosed?

lekker

It is possible that you developed a harmful gene mutation as you were developing in the womb - I think that's how all inherited mutations first start. That mutation develops in every cell in your body and can be passed on to your offspring. It is known as a de novo germline mutation - maybe try googling that term. Family history is only one factor when determining whether genetic testing is appropriate for an individual. Sometimes it's based on your ethnic background even if no one has developed cancer in your family. I'm assuming you've received a cancer diagnosis to be asking this - a personal history of cancer is another factor (diagnosed at a young age or certain rare types)

MTwoman

Here is an article on PubMed on a 35 year old woman diagnosed with bc and a BRCA 2 de novo germline mutation and another citation from a few years later documenting another occurrence.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734809/pdf/v038p00102.pdf

https://www.ncbi.nlm.nih.gov/pubmed/19796187

It doesn't seem to be common, but it does happen. Early onset bc, even without a family history, is the reason that some women are referred for genetic counseling/testing.

AnaMaria34

Yes. I thought my stats would be included at the bottom but I guess I don't have that setting turned on or something. I had stage 1a, grade 3 IDC (2 tumors 1.7 & 2 cm) and DCIS in the left breast. Had a dmx. Waiting on Oncotype DX test results for chemo. ER+ so will try to do 10 years of Tamoxifen. Thanks for bringing it to my attention that I didn't include that info.

mustlovepoodles

And to answer you question, yes, you can pass a gene mutation to your children. If you have it, there is a 50% chance they will also have it and 50% chance that they won't.  Gene mutations do not "skip a generation", so if you are negative, your children will also be negative, as will your grandchildren (assuming there isn't something on their father's side.)  In my case, I won the trifecta--invasive breast cancer, luminal B (more aggressive), and TWO gene mutations. But I wasn't surprised, because there are 19 cases of cancer if you look at the 1st and 2nd generations on both sides of the family (mostly breast and colon, but also others.)  My genetics counselor surmised that I probably got one gene mutation from mom and the other from dad, given the types and pattern of the cancers.

Best of luck to you. I think if I were as young as you, I would want to see if there was some mutation causing the breast cancer, especially if I had children.

Lula73

with the genetic testing they are also looking for any mutations that put you at risk for ovarian cancer too as they are often linked.We didn't have significant family history of bc but I got it (I also was high risk due to radiation therapy as a child for hodgkins lymphoma). Genetic test came back with genetic mutation for BRIP1 which plays a role in bc (they're not sure to what extent yet) but it also increases risk for ovarian cancer. Since the ovaries produce 80% of our estrogen and my bc was ER+, it makes sense to just take them out too.