mutational signatures

ihatesnowihatesnow

http://scitechdaily.com/researchers-identify-mutational-signatures-that-lead-to-cancer/

gpawelski

The situation is that splice variants, duplications, mutations, SNPs, non-coding DNA, siRNAs and a wealth of downstream events, make an interpretation of genomic data highly problematic. The fact that a laboratory can identify a gene does not confer a certainty that the gene or mutation or splice variant will confer an outcome. The input of possibilities overwhelms the capacity of the test to rule in or out the answer. Some of the tumor promotion signals in the form of siRNAs may arise not from the cancer cells, but instead from the surrounding stroma. How will then, even the most perfect genomic analyses of cancer cells play out in the real world of human tumor biology and clinical response prediction?

ihatesnowihatesnow

weather achievable or not whats needed that would not overwhelm the tests results?

voraciousreader

With respect to DH's extremely rare genetic metabolic muscular dystrophy, we've know for decades that despite identifying the mutations that cause the disease, there are numerous other variables that play into having the disorder AND how having the defective gene affects each individual. I assume the same occurs with having a mutation that occurs with cancer. Researchers and clinicians who study the DH's disorder know the genes associated with the disease. However, having the mutated genes does not tell you how severely affected one might be from the disorder. Also, one person's body, with the disorder, might produce more of the enzyme and be more symptomatic than someone, with the disorder who has less of the enzyme! And, to complicate matters, there are some with the disorder who are almost asymptomatic that they are not diagnosed at all or are sadly diagnosed, when another family member is born with the disorder and are catastrophically affected. So, while we can use genetics to identify all kinds of diseases, we still are far away from determining the interaction of the genes with our bodies cells.

gpawelski

voraciousreader

You got it right!