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Cancer – Genetics

March 16, 2022


There is a principle for a cancer. If I were to get diagnosed with cancer, you’re gonna look to see if my cancer has what’s called germline mutations or somatic or sporadic mutations. Somatic and sporadic mean it’s something that happened in the coding for that cell in your lifetime. It is not something that was passed onto you from your genetic makeup, from your mom or dad. It’s something in your lifetime that, as your cells have replicated, underwent a mutation, that is, a bad one, and that’s a somatic or sporadic mutation or process. That is different than what’s called germline. If you hear germline, that means they’re looking to see, is this something in the line of your family, that when you got your DNA stuff from your mom and your dad, did you have something in there already that predisposes you to a cancer?

One common germline mutation we check for is BRCA. BRCA1 and BRCA2. And that is something that was passed down from your family that may predispose you to have an increased chance of breast cancer, prostate, and other cancers. That would be a germline mutation, and that can be inherited. Another one is called Lynch syndrome. So that’s why we ask a lot of patients with colon cancer, does your mom had it? Dad? How many people in your family? Was it below 50? Because that clues us in that somebody may have Lynch, which also has something in your repair proteins that you may have been passed down with, a germline mutation, that predisposes you and thereby increases the things that you should be screened for. So when you’re looking at genetic mutations with a tumor or with a person, it can get confusing when you’re talking about germline versus somatic.

So BRCA for example, we definitely test BRCA as well as other ones to see if you have an increased chance of breast cancer. But then we also have BRCA mutations that are somatic. So we look at the cancer cell itself and see if it got a BRCA mutation that is not related to the DNA that was passed down. And the DNA that’s in your regular cells. This would be something somatic just in the cancer cell. And depending on where your mutation is, it can qualify you for different therapies. But the big difference maker is what, when people ask, is cancer inherited, is what is your germline mutations? And that testing you can do at like $200, $250 is generally the price in most cancer testing private companies, to just get an idea of what you have an increased risk for, but your doctors, they should have a screening protocol to see what may be common or not common in your family. And that kind of clues us in onto what you should be tested for.

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