BRCA1 Positive | Cindy’s Cancer Journey

BRCA 1 - BReast CAncer Genetic Mutation

Br = Breast Ca = Cancer

What does being BRCA1 positive mean?

It means that I have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation.

How many women have the mutations?

Only about 1 in 600 women have variants on the breast cancer genes that are known to increase cancer risk. Overall less than one percent of the U.S. population of women has them.

In total, 5 to 10 percent of breast cancer cases, and 10 to 15 percent of ovarian cancer cases, involve mutations on the BRCA genes. Most do not.

What does all this mean for me?

Per my Gyn Oncologist, Dr. Neil Phippen

BRCA1 mutation which makes “homologous repair deficient”. This means I am not able to repair my damaged DNA with the homologous repair pathway like a non-mutated person.

PARP-inhibitors are especially effective in patients like me who are homologous repair deficient because they inhibit PARP which is a key component of a different DNA repair pathway that people like me rely on more heavily in setting of my homologous repair deficiency.

I will begin a PARP inhibitor once I complete my treatment

Advocacy!!!

Healthcare Providers need more complete diagnosis and identification of those who have these mutations so they can intervene with prophylactic procedures to prevent you from getting cancer. Since it is not cost effective to genetic test every person we have to increase education so people learn who is at risk based on family histories and then make testing this at risk people cheaper and more easily available.

An Awareness & Education campaign is the starting point but then once people get educated and feel like they might meet the criteria for such a condition they need to have access to a genetic counselor, and a knowledgeable health care provider to determine if genetic testing is warranted.

Then for the small few who test positive they have to have access to cost-effective life saving prevention interventions and enhanced screening.

Remember this?

Angelina Jolie was also positive for the BRCA1 mutation. Her mother passed away from Ovarian Cancer after a 7 year battle. It was in the news briefly when she opted for surgery but there was no sustained effort to keep it in the spotlight.

Watch this video if you want to learn more about the BRCA genetic mutation

https://youtu.be/2q-EPxSCo0g