June, 2024
June 2024
Simona Cristea: The progress of cancer genetics
May 18, 2024, 01:19

Simona Cristea: The progress of cancer genetics

Simona Cristea, Head of Data Science at Hale Center for Pancreatic Cancer, made the following post on X:

“The progress of cancer genetics

A Nature piece argues for classifying cancers by their molecular features (eg. TP53 mutation, PDL1 expression) instead of their organ of origin (eg. lung, breast), because such molecular features are what largely determine the course of treatment.

This reminds me of pure computational biology methodology happening first around ~2010s of clustering patient samples while disregarding their tissue of origin, with the idea of “finding drugs from some cancer types that can be used in different cancer types with fewer treatment options”. The input data there was either bulk RNASeq or DNA whole exome sequencing.

Such work would (almost) never make it to top journals at that time, because it was thought that putting together cancers of different types made no medical sense and was simply a theoretical exercise.

Well, that theoretical exercise was the beginning of cancer genomics, which is now the main pillar driving both cancer therapeutics and cancer research forward. So, it wasn’t purely theoretical after all.

As this Nature article outlines, classifying tumors by molecular features makes sense from many perspectives, with the most important being getting patients faster access to new drugs with less bureaucratic delay triggered by new clinical trials. Why is this? Because the success of a cancer drug in a patient population is intrinsically centered around the molecular characteristics of tumors. For a new therapy, some patients will respond, others will not. Why is that? The answer (or at least a part of it) is oftentimes hidden in the genome/transcriptome/epigenome of the tumor.

There is however lots of specific (and practical) knowledge being accumulated in the field by people studying a single cancer type in great depth. Oftentimes metastatic cancers originating from the same organ retain similar characteristics to the cells they disseminated from. Therefore completely forgetting about their tissue of origin makes equally little sense.”

Read further.
Source: Simona Cristea/X