First, before I continue my educational dialogues, I have to admit, as strong as I have been trying to be in all of this, I hit a wall today. A hard, really tall, really wide wall with a lot of tears to boot. I was talking with my friend whose husband is fighting cancer and then got a text from another friend that is battling lung infections from the long-term radiation damage he has suffered. As we were sharing our updates, I just got angry. Why are we even having to talk about such things? Why are we, who are sick ourselves, also having to care for and lift up our own friends while they are battling the same. There are so many shitty people in this world, you wonder how this finds the ones that it does. But I digress, so back to today’s topic. Genetics.
I had genetic testing done at my initial consultation. It has to be sent to a special lab out in California, so it takes a long time to come back, which makes the wait a bit agonizing. If it had been positive for the BRCA gene, we had agreed I would move forward with a full mastectomy. Pretty big decision to hang on a tiny vial of blood huh? Thankfully, my tests came back negative for any associated mutations related to cancer. I feel many people are familiar with this gene, but maybe not the level they should be.
Genetic testing for the BRCA1 and BRCA2 genes is used to determine whether a person has inherited mutations in these genes that increase the risk of breast, ovarian, and other cancers. These genes, if normal, are tumor suppressors and help repair damaged DNA. If a mutation exists, it can impair their ability to repair damage and lead to an increased risk of cancer, particularly breast and ovarian. This is the important part. This is NOT just specific to women. Men with BRCA mutations also have an increased risk of prostate, breast, and pancreatic cancer.
Genetic testing is recommended if you have a strong family history of breast, ovarian, prostate or pancreatic cancer, a diagnosis of breast cancer at a young age (under 50), a Triple Negative breast cancer (the most aggressive form), are an Ashkenazi Jew, or are a male with breast cancer. Testing is done by blood or saliva and can come back positive or negative or can be a “variant of uncertain significance (VUS). This is when a mutation is found, but its impact on cancer is unclear. In my case, there were additional panels done to test the following:
- PALB2 – Increases breast and pancreatic cancer risk.
- ATM – Associated with breast cancer risk.
- CHEK2 – Linked to moderate breast cancer risk.
- TP53 – Related to Li-Fraumeni syndrome (increased risk of multiple cancers).
- RAD51C/RAD51D – Associated with ovarian cancer.
- MLH1, MSH2, MSH6, PMS2, EPCAM – Related to Lynch syndrome, which increases ovarian and other cancer risks.
For women, the following shows the risk associated with the mutations:
| Cancer Type | General Population Risk | BRCA1 Mutation Risk | BRCA2 Mutation Risk |
|---|
| Breast Cancer | ~13% | 55–72% | 45–69% |
| Ovarian Cancer | ~1.2% | 39–44% | 11–17% |
For men, the risk associated with the BRCA mutations are below:
| Cancer Type | General Population Risk | BRCA1 Mutation Risk | BRCA2 Mutation Risk |
|---|
| Male Breast Cancer | <0.1% | ~1–5% | ~5–10% |
| Prostate Cancer | ~12% | ~15–20% | ~20–30% |
| Pancreatic Cancer | ~1% | ~1–3% | ~2–7% |
If you are positive, and not currently diagnosed, you will undergo increased surveillance through more frequent mammograms, MRIs, or blood tests for ovarian cancer (CA-125). Most likely preventative surgery would be recommended such as a mastectomy or oophorectomy to lower your risk substantially. A mastectomy reduces a woman’s risk by 95%. Medications like tamoxifen may be prescribed to suppress hormone production and you can reduce lifestyle risks such as smoking, poor eating and lack of exercise.
What does this mean for your children? Statistics show about 1 in 400 people carry the BRCA gene. If one parent carries a BRCA mutation (heterozygous carrier), each child has:
- 50% chance of inheriting the mutated gene.
- 50% chance of inheriting the normal gene and having no increased BRCA-related cancer risk.
If both parents happen to carry a BRCA mutation, which is rare, the child could inherit:
- Two mutations (homozygous BRCA) – This is extremely rare and may be linked to Fanconi anemia, a serious genetic disorder.
- One mutation (50% chance, like a typical case).
One final note, BRCA mutations cannot skip generations. If it appears to do so, it is usually because the person carried the gene but never developed cancer. If in doubt, ask your doctor and ask your insurance if they will cover testing if you want to be certain.
Leave a Reply