Practicing Medicine

Today I received additional results from my genetic testing, something I’d been waiting on for a while. The test was done to check for any genetic predispositions that might explain why I developed breast cancer, especially since I don’t have a strong family history of the disease.

The results showed a variant in the POLE gene. I’d heard of genetic markers like BRCA1 and BRCA2, but POLE was new to me, so I started asking questions and doing my own research to understand what this meant. The POLE gene (short for DNA polymerase epsilon catalytic subunit) is a key player in DNA replication and repair. It acts almost like a spell checker for your DNA, making sure that when cells divide, their DNA is copied accurately, and any errors are fixed.

When there’s a mutation in this gene, the spell-checking mechanism can fail, allowing errors to pile up and potentially leading to cancer development. The POLE gene has been linked primarily to polyposis syndromes and colorectal cancer, but there’s emerging research exploring its potential connections to other cancers, including breast cancer.

In my case, the report said I have a variant of unknown significance (VUS). That means scientists haven’t determined yet whether this specific change in the gene is harmful or just a harmless variation. It’s a bit of a gray area—no definite answers, just something to monitor closely as more research becomes available.

I had a lot of mixed feelings seeing this result. On one hand, it didn’t give me any immediate, life-altering news. But on the other hand, it raised new questions. It made me wonder if this gene might be a hidden part of my story—an unseen risk factor that I never knew existed.

Knowledge is power, but sometimes it also brings more mystery. I’m learning to hold both at once.

For now, my medical team is keeping this on their radar, and I’ll continue doing my part to stay informed and advocate for my health. This journey keeps reminding me that even when we think we’ve asked all the questions, there are always more layers to uncover.