1/This is very basic but might be useful at a certain point...so the basic question is how do you check quickly for the prevalence of a mutation in your favorite cancer type...my question was: How often do we find NRAS mutation in malignant melanoma?
#pathology #molpath
#pathology #molpath
2/ The question comes from an article on 14 melanoma cases that were found to be S100 and Sox10 negative. The authors found that the overall frequency of NRAS mutations in this small cohort was 36%. So as a first step I go to the cbioportal.org homepage 
3/ In the "Search" field I type "melanoma"
4/ Then I scroll down and select from the multiple available melanoma studies the "Skin Cutaneous Melanoma" studies as this time I am interested in this subset of melanomas...and then hit the "Query By Gene" button 👍
5/ Now I came to the next page and I can enter the symbol of the gene of interest in the "Enter Genes" window...I type "NRAS" this time 🤣
6/ Before hitting the "Submit Query" button I do a little extra thing...I deselect the "Copy number alterations" option as this time I am only interested in "Mutations"...then hit the "Submit Query" button 👏👏
7/ And then "voila" the results are displayed and it shows a mutation frequency of 22% (1273 samples analysed in totally 5 studies)
8/ if you scroll down to the graph that displays the data for each study then you can see that the frequency of NRAS mutation varies between the study cohorts from 10% to 28%...
9/ if you are interested in the actual NRAS mutations that were found in these study cohorts then just click on the "Mutations" tab and the NRAS mutations will be displayed in a list...
10/ Ok, done with this one 😀 Do try it on your favorite mutation in your favorite cancer type...first time it will take you a few minutes then much quicker ... Good luck!!!
