Gene Mutation and anxiety

artisto101

Hi,I wanted to post this here because I recently found out my mom has a gene mutation and I’m terrified I might have it too but the mutation itself doesn’t seem to be that well known? It’s BRIP1, my mom knows I’d freak if I knew about it so I can’t really ask her.

From the article they gave my mom, it gives you a moderate risk for ovarian cancer, it started to mention things about breast cancer but none of it made sense really. But I heard it could have a connection to breast cancer.

I guess I just wanna know how concerned I should be about BRIP1. My mom is 56 and I am 20, I know this came from her fathers side, and only 2 people on her side had breast cancer, my dads side is compeletly healthy. Thank you if anyone knows anything, I’m not not sure where else

santabarbarian

First, there is only a 50% chance you have the gene even if your Mom has it. I have not heard about this specific gene. If you want to know more you could google about it.

artisto101

yes I know, but that's still a pretty high chance. I've tried to google it and there aren't any sites specifically talking about this mutation that I can find.

Veeder14

I can understand your concerns and fears about this. There is some information from the National Institutes of Health about this gene mutation. Plus more info I found by doing a google search. It was mentioned that this gene mutation was discovered not that long ago.

Do you have a Gyn doctor you could discuss your concerns with? You could start by getting tested but you'll need a doctor to write an order. It's really a good idea to get tested to see if you have the gene mutation. If you don't have it then you won't have to worry.

I was tested and have inherited the BRAC2 gene mutation and there are specific methods for additional surveillance like Breast MRI's, vaginal ultrasounds, and treatment which insurance pays for because the gene mutation makes me high risk.

santabarbarian

the info I found said the risk of ovarian cancer is estimated at 1 in 100 for most women, and 5 in 100 for carriers of the gene. Of course, that still means 95% of the gene's carriers *won't* get ovarian cancer. I think you have time to wra your head around this and get your doctor's recommendations about it.

SparkleKitty

Honestly YouTube is how I found out about it. Young peoples real experiences with the genetic mutation.

djmammo

artisto101

If you are going to Google, search for a Genetic Counselor in your area and make an appointment.

Salamandra

Hey artisto101,

Whether you are Jewish or not, Sharsheret can at least help you get started on understanding and exploring some of the genetics issues. I found their social worker and genetics counselor really helpful for me at the beginning of my journey. The genetic counselor can do a telephone/facetime appointment with you to talk about genetic testing, what it can't and can tell you, understand your mom's results better, make suggestions about follow up for you, etc. They have the most expertise about genetic situations more common in the Jewish community but their mission specifically includes everyone, and I'm confident that if they think they don't have the expertise to help you, they would help you find someone who could. Don't feel silly about calling. Their social worker might also help you think through talking about it with your mother. Which I think could be really useful and good for your relationship at some point when you're ready.

I also had a genetic variant of uncertain meaning. That means they've identified that it's unusual but they don't have a grasp on what it does - does it increase my risk for certain things? Lower it? They have no idea. What fun and useful information! (not).

So I'm storing that knowledge away and getting on with things. In the end, life gives us what it gives us.

It's great that your mom knows about this situation now.

vlnrph

I echo djmammo's advice to seek out a genetic counselor. These master degreed professionals are trained to interact with you as Salamandra describes.

Your mom can help expand the knowledge base regarding this mutation by joining the PROMPT study, a consortium of leading universities involved with pooling data since we do not have a central registry for this type of information in the US.

Also, although their main concern is BRCA, the FORCE website is a good one to explore for support.