- We share a lot with our families.
From that daily phone call with mom,
right down to our genes.
And when it comes to those genes,
they can play an important role
in giving you a heads-up about potential health problems.
- [Announcer] Marina Tiberi is a typical mom
who cherishes time with her family.
- I love to spend time with my husband,
we have a good relationship.
We've been married 32 years.
And my kids, I just love every minute that they're around.
It's precious time to me, family time.
- [Announcer] She enjoyed an overall healthy life.
But that all changed with a routine mammogram.
- There was something wrong.
So I went back for a second one, a second mammogram.
And right then and there that day,
they came in and told me that they'd have to do a biopsy.
So I scheduled that a couple days later,
and sure enough it was breast cancer.
It really just kind of punches you down,
and that's all you can think about.
And it scared me.
It scared me, I couldn't sleep.
- It was an architectural distortion,
just a little bit of a difference.
Her prior mammogram had been several years earlier,
and this little area hadn't been there before.
- Because I was 46 and there's no family history,
they were thinking that
it had to be something genetic, probably.
Because I was younger than 50.
- Breast cancer is an overgrowth of abnormal cells,
either in the milk duct or the lobule of the breast.
Those cells are abnormal
because they've undergone a genetic mutation
due to some sort of DNA damage.
Most early-stage breast cancer is diagnosed on imaging.
- [Announcer] Marina underwent radiation and a lumpectomy.
And then had her genes checked.
- When she was initially diagnosed,
we tested her for the BRCA mutation.
But she tested negative.
So at that time,
we really didn't have a further panel
of mutations to look for.
- [Announcer] At the end of treatment,
it was celebration time.
Marina was declared cancer-free.
- I'm very lucky. I felt like a weight was lifted off me.
- [Announcer] However, her health care team
was still concerned about
whether her genes put her at risk for a recurrence.
So they brought her back in for further testing.
- Really, it's only been
within the last probably five years,
that we've had the availability of doing genetic testing
for some of these other genes other than BRCA1 or BRCA2.
- Every several years, we're going to maybe retest people.
Because new things, new genetic abnormalities
in the human genome have been identified.
- And she was found to have mutations
in a different gene that's called CHEK2.
Which is also a gene that has been associated
with an increased risk for breast cancer.
- For me, I've always thought the more knowledge we have,
the better off we are.
Be proactive in our health.
I do wanna know.
I wanna know because I'm in charge of my life.
It's me, I'm in charge
of what's gonna happen to me in the future.
- [Announcer] Armed with that knowledge,
Marina worked with her doctors
to come up with a more personalized screening
to keep an eye out for any future signs of cancer.
- Yeah, you'd be afraid if you found out that.
But maybe you can help with your treatment,
if you know that you're more at risk for something.
- Our goal is ultimately to try to prevent a cancer.
Or as we said,
to try to detect a cancer at an earlier stage.
- It gives me a peace of mind.
It empowers me to take care of my health.
- [Announcer] Not only was Marina able
to take charge of her health,
she was also able to equip her children with information
about their genes based on her results.
- At least they're aware of it.
I am hoping that I empower them with the knowledge.
- [Announcer] Knowing that
she's being appropriately screened
has given Marina peace of mind,
and allowed her to focus on enjoying time with her husband.
- Having the knowledge of what I have
just makes it all better, it really does.
I'm not gonna dwell on it.
- It's important to learn about your family history,
share that information with your doctor.
And then we can try to identify who this is appropriate for,
and maybe who this isn't appropriate for.
- It most definitely is a very powerful tool.
It allows us the potential for very likely
being able to early diagnose somebody
that probably would not have been early diagnosed before.