Individualized Signaling Biology (iSignBio)

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on October 30, 2024

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It was a wonderful time working with Prof. Dr. Axel Ullrich - Stopping Cancer at the Root

on June 15, 2017

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Are cancer causing mutations losing their "Driver" status? - a personal view

When I first started looking into dbSNP database in the year 2012, I was quite surprised to discover that the so called "Driver" mutations were catalogued in this human genetic variation database with a reference SNP cluster ID. dbSNP entries were meant to be a repository for germline variations. Whereas for somatic mutations which are detected in cancerous tissues, COSMIC database was the place to go looking. To validate whether germline variants co-localize with somatic variants, I took a look into the TCGA datasets. Surprisingly, there were quite a lot of correlation among germline and somatic variants. Shown below is the plotting of all aggregated somatic variations versus aggregated germline variations found in the human genome. Clearly, a large majority of somatic variants are also found in the human genetic variation database. This suggests the spectrum of somatic and germline mutations are more or less identical for human tissues. In simple words, in some people healt...

It was a wonderful time working with Prof. Dr. Axel Ullrich - Stopping Cancer at the Root

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