BRCA1 pathogenic mutation in family....Need testing tips

CGLion

Hi all!

I have another post going but this is a bit of a separate issue, so I hope it is understood why I want this question to have its own attention.

My maternal grandmother was adopted as a toddler and we never knew anything about her birth family. She is also the one who was diagnosed with BC at 38 and passed at 40 or 41. I called a surviving aunt to verify the family history of BC and ensure I'm giving the doctors the most accurate information. She told me she had located my grandmothers birth family after doing an ancestry DNA check. They started talking and told her there is a confirmed pathogenic BRCA1 mutation in the family. They gave her a pedigree chart and the information of the specific allele found.

Because of the way this was discovered for me I don't have the contacts of who to call and what my next steps are to get tested myself. I know I need to given what is occurring in my breast already. I was hoping someone who has go through the process could tell me who would be the best care provider to call. Would it be my PCP or BS or should I try to find a genetic counselor? Just hoping for some guidance as I really have no clue how to go about this. For the time being I won't be able to get more information from that extended family, as it is a sensitive situation.

I appreciate any help you can provide,

Carissa

vlnrph

Start with a genetic counselor, for sure. I cannot stress this enough. There is much more to consider than simply getting tested. You must have whatever life, long term care, disability, etc insurance you would ever want in place before your sample is sent to a lab. It might be wise to have a panel run.

While primary care providers or breast specialists can certainly order analysis (or you can go on line and get it done all by yourself!), you need the guidance that only a trained expert in the field is prepared to give. What if something besides the known BRCA abnormality is found?

Call your clinic and ask for a referral. Take the info you’ve been sent when you go to the appointment. Lots to process so take your time and get answers to all your questions including how to notify other relatives - men too.

CGLion

Thank you so much for this information!!! I didn't really even think about the insurance part of it other than health insurance....I will be asking around for a genetic counselor so I navigate all of that the best way possible. And help with figuring out how to notify family if needed would be very nice.

BTW, I'm sorry it took me several days to respond to your great advise....I didn't get a notification you posted and just saw your response when I came here to bump the post.

godisone

dear vlnrph i can understand the anxiety you might be currently going through. the confirmed pathogenic BRCA-1 mutation in the family you are born could be quite scary and you should waste no time to get an appointment with your PCP as he/she might be able to guide you through the steps you need to take right now to stay and remain healthy. also, knowing about your genetic markers and mutations if any is no harm to get checked for any breast or ovarian tumor or cancerous growth. once the process is complete do talk to your breast surgeon or oncologist about how to keep a check on any tumor growth. also, it is always nice to be healthy and make your immunity strong which can be achieved by adopting to a healthy lifestyle by performing yoga, aerobics or some kind of stretching exercises. you can also go to a walk post dinner. and also go for healthy eating which means having a balanced diet and avoiding deep fried and fast food as much as possible. stay away from stress and keep happy, spend time with family and friends and try to remain positive no matter the circumstances. i guess all this small changes in lifestyle along with the medical guidance can keep you healthy for lifelong.