The Genetics Of Breast Cancer

The Genetics Of Breast Cancer


– 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.

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