#sciencesunday – Inherited vs tumor genetics

Kasia, one of the friends I’ve been staying with in Poland gives sessions on moving and harnessing energy holistically and she gave me a session to try and move the cancer energy out of me. In one of the sessions, she had me pick an energy card to work on and this is what I drew:

Which is fitting because genetics are probably the reason I’m in this mess in the first place and breaking the genetic code is what I’m trying to do.

Most people see genetics as inherited, i.e. passed down in families. But that is only a small part of the genetic code I am trying to crack.

I’ve written about testing I’ve done for mutations. Today, I wanted to explain the difference between inherited (germline) mutations and tumor (somatic) mutations.

First off, the genes themselves, do not cause cause cancer. BRCA and p53, for example, are tumor suppressor genes. That’s good because it means they keep cancer cells in check. The problem happens when there’s a mutation in the tumor suppressor gene that makes, say, BRCA ineffective. So it’s the mutation causing the cancer, not the gene itself. I wanted to clear that up because people usually refer to themselves as BRCA-positive or negative, not BRCA mutation positive or negative.

So there’s a bunch of germline mutations, which are passed down the family line. They can be passed by either parent. BRCA is the most well-known and increases a person’s risk of developing breast and/or ovarian cancer substantially. But there’s a lot of other mutations, many which doctors and researchers don’t quite know what to do about. Therefore, testing for BRCA only is what often happens. There are other tests that test for other mutations.

Due to my young age when I developed cancer, I have been tested twice for inherited mutations. I have tested for a few Variants of Unknown Significance but never tested positive thus far. But between my young age and my not extensive but not insignificant family history (especially given my family is pretty male-dominated), I may still be positive for an inheritable mutation that is in the process of being identified.

Then there are somatic mutations, that occur within the cancers themselves. Some mutations are present in the original tumors, some mutations are acquired as the tumor grows and spreads. Many of these mutations likely lead to resistance to common therapies. I have had my metastatic brain tumors tested and the testing showed several mutations that are common in the resistance to Her2 targeted therapies. When I went to South Dakota to meet with Dr Leyland-Jones, I was looking for ways to use combination therapies to overcome resistance.

Targeting somatic mutations are a new thing in Oncology and the theory is to treat the cancer based on a person’s individual tumor makeup instead of just treating based on tumor origin. I am super excited about this approach, even though this practice is still a lot of trial and error. I am going to add some slides from the conference I just attended to illustrate what this personalized medicine approach is all about and what the current challenges are. This is the main genetic code I am trying to break. I…we…NEED to break it for the sake of saving/extending my life and the lives of my fellow MBC patients and friends.

#sciencesunday – Inherited vs tumor genetics

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