Episode 2: Genes - the”X” Factor
Duration: 9:14
Transcript
Welcome back to the Cancer Simplified podcast.
In our first episode we explained that cancer is a disease that begins in human cells.
In today’s episode, we’ll discuss the “X Factor” which refers to very valuable information about a patient’s cancer; and yet that information often is not obtained as part of developing a patient diagnosis.
The X factor info is obtained from a test - a test that costs only around $1000. You would think that every oncologist, just to be prudent, would order up this test.
But, for about half of the patients with major tumor types - lung, colon, breat - their work-up never has the X factor test results. That vital information is never obtained. Who knows why?
1. GENOMIC SEQUENCING . . . ABCs
The test I am referring to would “sequence” a cancer patient’s genome. In many cases these days what the oncologist orders is a truncated version which only analyzes a panel of perhaps 30 genes that are known troublemakers. Known to cause cancer.
As scientists examine a panel of the genes most commonly associated with cancer, what are they looking for?
They are looking for genes that are imperfect - that have been “mutated.” Genes that no longer per-form their assigned tasks. By the way, a sequenced genome is simply a scrambled group of four letters - CAGT - repeated over and over.
And why is this “treasure hunt” for mutated genes so important? It is because those genes cause cancer and medicine may have a chance for an intervention that snuffs out the worst behavior of these renegades.
I would not call them the “dirty dozen” but there are a handful of mutated genes that keep appearing under the microscope when scientists examine cancerous tissue. Here are two of the worst:
TP53 -This gene - when healthy - produces a protein - p53 - and it acts as a brake on a can-cer cell’s proclivity to multiply uncontrollably. However, when mutated, the gene does not function as the “tumor suppressor” it is intended to be. This mutated gene is found in roughly 50% of all cancers. And sadly there is currently no FDA-approved drug to specifically combat this mutated gene’s nefari-ous activities.
KRAS - This gene plays a crucial role in cell growth and survival. When mutated, these genes contribute to uncontrolled proliferation, growth, and survival of cancer cells.
2. PERSONALIZED MEDICINE
We hear a lot about this phrase, but what does it really mean in the context of treating cancer?
Well, what we’ve just been discussing is a very good example of personalized medicine. That’s be-cause our hypothetical cancer patient obtained a gene sequence test - a classic example of “con-cierge medicine” - and then the test showed two seriously mutated genes, and the oncologist was in a position to search for new drugs that can block the cancer-causing influences of those two factors.
This is a long way from you might call the “Basic Drug Intervention” for cancer - which is chemothera-py and radiation. Period.
3. HOPE
So, we’ve just finished talking about a new way of treating cancer developed over the last 25 years.
When cancer patients hear about breakthroughs achieved in just the last 10 years, they see that science is still working to “crack the code.” Still looking for an all-out cure for cancer - even if the treatment has to be “personalized” - meaning tweaked based on the unique genes of every individual.
After I’ve told a story or two about seeming miracles of personalized medicine, patients always ask for for more, saying something like:
“Tell me, please, about another scientific breakthrough. One that saved lives and gave hope.”
So . . . another scientific advance I like to talk about with patients goes under the heading “Targeted Therapy.” Many of the most inspiring stories include a relatively new drug called Avastin - a monoclonal antibody medication.
Avastin falls into a new category of drugs known as “targeted therapies” In the case of Avastin, the drug is targeting the blood vessels that run all along the surface of cancer cell, and deliver
the nutrients the cell needs to survive. By inhibiting angiogenesis (the process of new blood vessels forming from existing ones), the blood vessels - around the cancer cell - shrivel up and the cancer cell dies.
So you can appreciate that dedicated scientists are carrying on the fight to find a cure for cancer and some real advances are here now - or will be shortly. So hang tough.




