Today let’s talk about tumor genomic testing versus germline testing.
If you have got these tests done, please share your experiences below in comments.
You can read about it here:
Why is this important?
Cancer is a disease of the genes, as most cancer is associated with gene mutations. If the cancer is because of disease of genes in the cells that make up the tumor and nowhere else, these changes are called somatic mutations. APC, TP53, KRAS, BRAF, PIK3CA, SMAD4 etc are examples of somatic mutations found in CRC.
On the other hand if the cancer is due to disease in genes that you have inherited, then this is disease of germline genes, and these changes are found in every cell of your body, including cancer, and these changes are called germline mutations. Lynch syndrome mutations, Chek2, BRCA1, MUYTH etc are examples of germline mutations.
If your cancer only has somatic mutations, you don’t have to worry about passing on these mutations to your kids. Whereas if you have germline mutations, then you can pass it on to your kids. Further, germline mutations like Lynch Syndrome mutations may increase your chances of getting other cancers and knowing this can help you be proactive and reduce or eliminate your chances to develop other cancers if possible.
Who should get tumor genomic testing done?
Tumor genomic testing is also referred to as genetic testing by people. Except stage 1, all patients diagnosed with colorectal cancer benefit from tumor genomic testing, though it is commonly done for stage III and stage IV patients. Tumor genomic testing is a great way to look at #biomarkers that we have been talking about.
We covered what material is needed for this test in last week’s post. You can find it here.
Who should get germline testing done?
Germline testing is usually recommended if you are young (below the age of 45) at diagnosis or when there is a suspicion that your tumor may be inherited or if you have a family history of colorectal cancer or any other type of cancer.
Did you know that in COLONTOWN we have the Inherited Mutation Clinic as well as Lynchville?
This screenshot is from Dr. Manish Sharma’s DocTalk on Phase I trials. This is a great pragraph about biomarker testing.
The whole talk can be found here
I will be back with more soon. Till then take care!
#ToLife! #ToScience!
— Dr. George