Hello
I have been diagnosed with advanced breast cancer in November 2022. I've had progression on Palbociclib+Letrozole and on Everolimus+exemestane now( no Pik3 mutation)Due to toxicity my oncologist reduced Everolimus to 7.5mg.
My next appointment with oncologist is on 7th October.
My main concern is why didn't i have done tests for BRCA and AKT mutation witch could change my treatment pathway.
Is it any particular reason to not get it done?
Regards
Ewa
Dear Ewa12
Thank you for reaching out for information and support to us here at Macmillan Cancer Support. My name is Rae and I am a Cancer Information Nurse Specialist.
As we are not part of your breast cancer team and do not have access to your medical records it is difficult for us to know if you should have been eligible for a BRCA and AKT mutation test.
Genetic testing finds out whether an altered gene such as BRCA1 or BRCA2 runs in the family. NHS guidelines state that genetic testing should be offered in specialist genetic clinics to a person with breast cancer if their combined BRCA1 and BRCA2 mutation carrier probability is 10% or more. We suggest that you speak to your team about your eligibility.
Looking at the AKT mutation, it seems that it is directly related to PI3K, which you do not have.
The best way to get the information relevant to yourself is to speak to your breast cancer team and ask the question directly.
If you feel that your care has not covered all the relevant investigations, you can speak to the Patient and Advice Liaison Service (PALS) and they can look into it for you.
Please do speak to our nurses for further support and information if you think this would help. Having an advanced cancer with progression can bring with it many emotions. Seeking help to manage how you feel is important. You can also join our online breast cancer forum.
Best wishes
Rae, Cancer Information Nurse Specialist
You can also speak with the Macmillan Support Line team of experts. Phone free on 0808 808 0000 (7 days a week, 8am-8pm) or send us an email.
Ref/RH/KE
