Noemi Fuentes-Polaños

The initial intent of the study was obviously finding alternative treatment for kids with poor prognosis cancer.

That was the main goal of the study.

Well, they are almost every type of cancer in a child could become poor prognosis if we sort of get to a point where there are not other treatment alternatives.

We found changes that were causing the cancer that we didn't expect.

Classically, you think that between 5% to 10% of kids may have a change on their genome that may cause the cancer.

But when you dig deeper and expand the list of genes you're looking at, you find that that percentage is much higher than we thought originally.

So now we know one in six children have a gene change on their gemline DNA.

The information we learned is slightly different than only the purpose of finding a treatment.

It's more useful to find a treatment to look at the cancer.

But what we can learn by looking at the germline DNA

is, is this kid have a risk of having another cancer?

And what should I do to prevent the cancer to present in a way that it's concerning?

Exactly.

And that's one of the genes we actually look at in our list.

So we found genetic changes that not only are useful for the kids, but also for the parents.

If a child has a BRCA1 mutation and that's inherited from mom, we were able to help mom to learn that so she can actually manage her own risk.

Yes, it's an example.

Of course, we have similar cases when, you know, the kid had a gene change in a gene associated to colorectal cancer or to leukemia.

And then you have a look of parents to see if they also had the same mutation.

For the gemline changes, in a very small proportion, they were informative enough to change or inform treatment, I would say.