There are specific gene mutations (called oncogenes) that can increase the risk of specific cancers. There are varied criteria for testing for genetic mutations depending on the type of cancer. Without more information, it is difficult to answer your question in any more detail.
Lung Cancer Questions
What is the mutation I keep seeing on other people's posts?
Asked by snuzsuz on Sunday, March 10, 2013
What is the mutation I keep seeing on other people's posts?
I have seen a lot of posts here about some kind of mutation and if it is positive or not. What does that mean? And how do you know if you have it?
12 Answers from the Community
I have seen EFGR mutation positive a few times, and I was just wondering what that ways.I'm not sure of the exact initials, I have Stage IIIa, non-small cell,adenocarcinoma,lung cancer, directly related to smoking for 48 years and I have never heard of the mutations except on here, Since mine is caused from smoking, maybe that is why they never looked for a specific gene?
You are most likely seeing my posts. Anyone with Lung cancer should have mutation testing of their tumor in order to select the best possible treatment options.. Go to "lets test now" and watch the video and all the additional videos on this site.
Lung Cancer is a group of diseases so its very important that you know the mutations that you have because to date we have more than 54 drugs for these specific mutations.
Mutations are proteins on a cell. These proteins help the cell become cancerous. There are also tumor supressor genes that are involved and may be found with your mutation testing.
May I ask where you are being treated? If you are at a major cancer center with lung cancer experts I am really surprized you have not been mutation tested. I have had two testings so far. This testing is critical to your best treatment plan and the data goes into the registry to help advance science to find the cure.
An EGFR is a specific protein on an exon 19,20 or 21 that responds to Tarceva a chemo drug used for lung cancer. It is a remarkable drug for many many people shrinking tumors by a huge amont and keeping people stable for many years. Some people without the EGFR mutation respond to Tarceva
but not as well or not as long.
Go to cancer commons and read about the group formed by the Bonnie J. Addario Foundation and the University of Chicago to collect and use this important data. Also read the living room webinars at the B.J. site to learn more.
Any q's pls. advise. and good luck. I would lijke to hear what your Onc has to say about your mut testing.
First, let me say Great job CAS1!!!!! Let me clarify just a bit more on CAS1's answer if I may.
EGFR is an Epidermal Growth Factor Receptor. This receptor has cytokinase activity, so this means that within the molecule of this receptor, is an ability to transmit a signal that causes cells to proliferate, grow or metastasize. CAS1 is correct when describing the location. In that big long chain of DNA which contains its main ingredients called nucleotides in groups of three that are called codons, they are surrounded by exons which consist of amino acids coded into the DNA chain, and then introns, which are spacers that interrupt the sequence during the transcription of DNA. In non-small cell lung cancer (NSCLC), more than 60% of cases express EGFR mutations. When EGFR is suspected, patient's are usually treated with a drug that will prevent that signal within from being transmitted to surrounding cells. Not a drug that binds to the surface receptors; but something that binds within the cytoplasm of the cell itself. CAS1 is correct in mentioning Tarceva (Erlotinib), but there are others like Gefitinib, Lapatinib, Afatinib to name a few. If you notice a pattern; it is that they all end in the suffix of "IB." Drugs in oncology ending in "IB" mean they are "Internal Binding" drugs. When learning drugs in nursing, you are taught that some classes of drugs can be described by their endings, for example Avastin (Bevacizumab) is a VEGF inhibitor that binds to a surface antigen, therefore it is an AntiBody and ends in "AB."
As a nurse, I can tell you that it is great to see patients asking questions about their disease; especially at a molecular level. If you can understand the biology or the "egg instead of the chicken," you empower yourself and learn so much about the anatomy of your enemy. You strengthen your arsenal and secure a great chance at victory. Best of luck to you. And to CAS1...you are my hero! I hope this info helps enhance prior responses, Carm RN.
I have been tested for mutations, this includes blood panels and of my cancer. Many gene mutations have been identified that if present, can help tailor your treatment. Right now my blood panels have all come back negative. My breast cancer tested positive for mutations, and I am now having my blood tested to see if any of my genes have that mutation.
I go to the Mercy Cancer Center in Carmichael California. It is a very small cancer center, as far as I know. They used what they called CarboTaxil chemotherapy and radiation. The tumors have shrunk to "almost nothing" and there is no metabolic activity.My last PET scan, they said I have a new tumor but it is less than 1cm, and there is no metabolic activity. I go get my port flushed on April 3rd. and see the doctor. I will ask then about the mutation test. Thank you all for your answers, and will look into the references you posted. I am eager to learn more about this:)
Snuz, that is great news on your results..Great news. You are in remission..
Carboplatin/Taxol was your chemo. Depending upon the result of a mutation test this can help plan what to do if you do have recurrance. Its a great peace of mind as well as a strategic plan.
Thanks Carm I appreciate your support. You did a great job at the explanation.
But to be honest I have been reserching cancer for more thna 10 years. I wish I never had to know a thing about cancer. First for my sister and now for myself.
As I learn I see real hope for all of us..and that is really empowering.
I have poorly differentiated high grade neuroendocrine carcinoma. It started out in two lymph nodes in my armpit. I went through, chemo, radiation and then surgery to remove what was left of tumor. Was cancer free for five months. Just found out in feb that it is back in one lymph node below my kidney. My dr sent my tumor tissue to Foundation One for genetic testing. I have five genetic mutations. Two of the mutations have the same recommended chemo treatment. I started afinitor one month ago with minimal side effects so far. If the afinitor doesnt stop the spread of this nasty cancer, i am looking at clinical trials. Does anyone know of any relevant clinical trials for this type of cancer? I feel like i am the only person in the world battling my specific kind of cancer! Noone responds to posts i post on various cancer websites.... I am 47, i have a six year old son and i am terrified! Its so hard to believe that with only one lymph node, that my situation would be so grim (in the words of my doctor).
I have the following mutations: