April 26, 2017 • 26 mins
After Angelina Jolie announced her preventive mastectomy, more women requested breast cancer gene testing. Caroline and Cristen explore the science, statistics and Supreme Court ruling regarding the BRCA1 and BRCA2 genes.
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Speaker 1 (00:04):
Welcome to stuff Mom Never told you. From how Stuff
Works dot Com. Hello, and welcome to the podcast. I'm
Christen and I'm Caroline. And as we mentioned in a
listener mail segment a little while ago, we were thinking
about doing an update on the breast cancer jeans Brocco
(00:25):
one and two, because we did an episode a long
time ago, years ago now on gene patenting and these
breast cancer jeans which a company called Mary Genetics had patented,
and since there was the Supreme Court case about that
patenting and also the big news with Angelina Jolie's preventative mastectomy,
(00:50):
we thought this definitely needed some updates, right, Yeah, just
to kind of familiarize you. If you, you know, haven't
heard of it, maybe you didn't listen to the past episode,
tisc tisc, But yeah, like Christen said, it really entered
the news big time on May fourteenth, when Angelina Jolie
published her op ed in The New York Times explaining
her decision to have a preventive double in the stectomy
(01:13):
after finding out that she carried a faulty Brocco one gene,
which increased her risk of developing breast and ovarian cancer
by about eight, seven, and fifty respectively. Doing this. Having
this procedure effectively cut Jolie's cancer risk to five per cent.
And she had genuine reason to worry because her mother,
(01:33):
Marshall Line Bertrand, died at age fifty six of ovarian
cancer in two thousand seven, and on June eighth of
this year, her mother's sister, Debbie Martin, died of the
same disease. Now, Martin had found out that she also
carried the faulty Brocco one gene, but was not aware
of it until after her two thousand four cancer diagnosis.
(01:55):
And so it's been a really intense spring or these
cancer genes because right after the passing of Debbie Martin
on June thirteenth, the Supreme Court invalidated the myriad patents
on those BROCA genes. Yeah, so just to back up
a little bit, let's talk about what those genes actually are.
(02:18):
It's Brocco one and Broca two, and a lot of
this information, by the way, is coming from the National
Cancer Institute, and the b r c A stands for
Breast Cancer Susceptibility Gene one and two. And everybody, male
and female, we all have two copies of each gene,
and we get one from mom and from dad. And
(02:39):
these are human genes that belong to a class known
as tumor suppressors. So when functioning normally, the protein that
these genes produce actually helps prevent cells from growing and
dividing too fast and developing those tumors. And so researchers
believe that a defective or a saying Brocco one or
(03:01):
two protein is unable to help prepare damage DNA or
fixed mutations that occur in other genes, and so those
mutations are linked to breast and ovarian cancer. Right, So
it's not that if you have it's not an issue
of having Bracco wan or Brocka two. We all have it.
It's an issue of having a faulty gene that's just
(03:21):
not doing its job. And so these Brocca mutations are
responsible for an estimated five to ten percent of all
breast cancers and ten to fifteen percent of all ovarian cancers,
and both men and women who inherit these mutated Brocca
one or two genes are greatly at risk of developing cancer.
For women, it increases the risk of breast cancer to
(03:44):
six compared to the population wide risk of twelve percent,
and so essentially it amplifies your breast cancers by five
and then um for women, it presents a fifteen to
forty percent risk of ovarian cancer compared to one point
four percent risk for the general population. And this is
(04:07):
important to note though, that the studies on the Broca
genes have been conducted on large families with cancer history,
so scientists do say that there could be some other
environmental and genetic factors at play. They are still figuring
out precisely what these genes do, but but those are
(04:27):
and I know we just tossed out a lot of
percentages and risk factors, but to sum it up as
simply as possible, not a lot of people have these
Brocco one in two mutations, but for that subset of
people like Angelina Jolie for instance, who do have them,
the risk of developing breast and ovarian cancer is greatly increased. Right.
(04:51):
And the Brocco one gene was discovered by geneticist Mary
Claire King in Bracca two was discovered a year later.
She talked to Slate about her work in this field,
and she said that it really confirmed the idea of
genetic predisposition to cancer. My work showed that one could
use the tools of genetic analysis to prove the existence
(05:12):
of genes responsible for an inherited form of a major
common disease, and that you can parse out the inherited portion.
So Mary Claire King is really a trailblazer in this field. Yeah,
And she didn't have a lot of backing when she
was initially doing the work that led up to that
discovery of the braco in gene. She was essentially working
(05:34):
with a very small pool of funding from the National
Institutes of Health and that was it. She was almost
doing it as sidework because she was really committed to it.
So um so, yeah, it was it was huge. And
we'll get back into what those genes mean for women
who have them, um But to get into more of
(05:56):
the business side of these genes and that patenting case
that we mentioned at the top of the podcast that
was recently struck down by the Supreme Court. Shortly after
Mary Claire King discovered braccawan, this company called Marria Genetics
came along and patented the genes sequence and and jeans
(06:17):
have been patented before. Jeans especially linked to other kinds
of diseases. But this is what Mary Claire King said
to Slate. Myriad insisted that it was the only entity
that could perform the tests and was aggressive in shutting
down anyone else because of that patent that at pursued.
And this force other researchers who have to request Myriad's
(06:39):
permission before they could look at the genes. So you
can imagine how that would slow down or bottleneck the
flow of research into the development of breast and ovarian cancers. Right. Absolutely,
these patents gave the company rights to future mutations on
BRACA two and power to exclude others from providing genetic testing.
(07:00):
And so what does that do when only one provider
can give you a service? The price skyrocket. So the
company was charging upwards of three thousand dollars per test,
which is hefty. Well, speaking of that test, what exactly
is this is a test that Angelina Jolie got um.
This also involves something called genetic counseling that happens before that.
(07:25):
So when you go in for a BROCA gene test,
what's going to happen is that they're going to do
a DNA analysis to identify those harmful mutations that we've
talked about that leads to that increased risk for developing
breast row varian cancer. But first you're probably gonna go
through something called genetic counseling, which is a risk assessment
(07:45):
based on a person's personal and family medical history. And
it's going to include discussions about things like the appropriateness
of genetic testing, the types of tests that might be used,
the technical accuracy of the test, medical implications for a
positive or negative result, psychological risk, risk of passing on
(08:06):
mutations to children. Basically, it's going to give you a
rundown of what might happen and whether even gene testing
is the best course for you to take. You might
not even need to do it right. And it really
is not offered to or performed on women who have
an average risk of breast rovarian cancers. It's really focused
on people who are likely to have the inherited mutation
(08:29):
based on that personal or family history, or women who
have specific types of breast cancer. And an interesting thing
to note is how focused it is in a particular population.
Uh It's particularly present in members of the Jewish community
who can trace their roots back to Central or Eastern Europe,
known as Ashkenazi Jews. They were for centuries and isolated population,
(08:51):
and this is coming from the Fred Hutchinson Cancer Research Center.
They said that one out of forty people of Ashkenazi
Jewish ancestry have a mutation in Brocco one or two,
compared to about one out of every eight hundred members
of the general population. So they are great candidates for
getting that genetic counseling to possibly get the DNA to
(09:12):
and outside of the Asha Nazi population, the types of
family history that a genetic counselor might look at would
be whether or not you have a first degree relative
like a mother or a sister who developed breast or
avarian cancer, or multiple second degree relatives like cousins and
aunts um and what happens if you have a positive
(09:36):
result from that gene test, well, it means that you
have that genetic mutation, and if it's on the Brocca
one gene, that means you have a sixty eight percent
lifetime risk of breast cancer and a thirty percent lifetime
risk of ovarian cancer, and a positive Brocca two result
means that you have a fifty to seventy percent lifetime
risk of breast cancer and attend to twenty percent lifetime
(09:58):
risk of ovarian cancer, but that doesn't necessarily mean that
you should go the Angelina Jolie route of having the
preventative double mastectomy. There are a range of options for
what you can do if you do have a positive
test result, and this was something that a lot of
(10:19):
doctors wanted to remind women when the Angelina Jolie op
ed came out in the New York Times and everybody
was talking about it, and obviously for women, especially with
a history of breast cancer, it got a lot of
them thinking whether or not they should go ahead and
get that double mastectomy just to lower their risks, and
and that's actually not necessary in a lot of cases.
(10:41):
That's pretty much the most invasive thing that you can do,
and for ovarian cancer, Julie actually decided against having her
ovaries removed, but that's another thing that can happen. But
on the less invasive side, options include surveillance, which is
just a regular cancer her screenings. Um you might have
(11:01):
prophylactic surgery like Jolie. Their their risk avoidance tactics, and
then there's chemo prevention, which you can also do, which
typically involves taking the drug to moxa fen which has
been linked to lowering the spread of breast cancer. Well,
Jolie definitely had quite an effect on this conversation. I mean,
we're talking about it right now to you. Um. A
(11:25):
story in the Miami Herald from June quoted some healthcare
professionals who have seen a definite difference since Jolie's op
ed appeared. Maxine chang Chin, who is a cancer risk
assessment counselor at Memorial Healthcare System in Broward, Florida, said
that it did open up the conversation. She said, some
patients heard about it and now call and say they
(11:47):
want to have genetic testing done, and they're also she
was explaining, just kind of more open and more comfortable
with the idea because Jolie is also very young to
have made this major decision. But at the same time,
because there is no standard criteria for Brocca genetic testing
at the moment. In other words, there isn't a standard
(12:09):
checklist of you know, if you have this, this, this,
then you should get it. That's why things like the
genetic counseling exists. As some people do caution that while
it is great, visually raised the awareness again the path
that she took is not necessarily the path that would
be appropriate for all women, regardless of whether they test
(12:32):
positive for Brocco one or two. And there is a
study of more than women in nine countries who did
test positive for one of those mutations, and it showed
that many American women in particular have chosen to have
their breasts or ovaries removed once they learned that they
carried the genes. But again, you know, that's one thing
(12:57):
on a menu of options for for what might happen UM.
And it's kind of on a side note, and I
feel like this is something that deserves maybe more attention
and possibly its own podcast episode. But but there's been
a bit of a medical downside to our vigilance, some
might even call it over vigilance towards breast cancer in
(13:20):
particular UM. In the New England Journal of Medicine, a
study recently found that one point five million women have
been needlessly treated for cancers in the past thirty years,
largely due to faulty mammogram results, and as many as
a third of tumors detected by mammograms are so small
and slow growing that they'll never develop into cancer, and
(13:43):
so on. The one end, you might say, well, better
to be safe than sorry. But on the other end,
there are also a number of doctors wondering whether or
not the age for mammograms when you start getting mammograms
should go up, or if our routine mammograms shoulder apps
be less routine because there's a lot of invasive surgery
(14:05):
happening that doesn't necessarily need to happen. So just one
thing to keep in mind. And also when it comes
to breast cancer versus ovarian cancer. While breast cancer thanks
largely to organizations like Susan g comb and that have,
through their pink campaigns, raised so much awareness about breast cancer,
(14:27):
and just because breast cancer, I would say it's the
most visible cancer in our culture, whereas ovarian cancer is
usually more deadly to women even though statistically or less
likely to develop it. But it's more deadly because we
usually catch it later on, because our vigilance is really
focused on breast cancer more than anything else. So just
(14:50):
a side note to keep in mind. Right, Well, we
told you earlier about how the Supreme Court did away
with the patent of the braca jeans. Well, let's let's
get into that fight a little bit. Um way back when.
In two thousand nine, the a c l U, along
with the Public Patent Foundation, sued the Patent and Trademark Office,
(15:10):
Maria Genetics, and the University of Utah Research Foundation, arguing
that patenting pure genes is unconstitutional and hinders research for
a cancer cure. They basically said that because patenting the
genes limits research and the free flow of information, it
violates the First Amendment, and Arthur Kaplan, who's the director
(15:31):
of the Center for Bioethics at the University of Pennsylvania
at the time, was quoted as saying, it's like trying
to patent the moon. You didn't do anything to create it.
You just discovered something that already existed. So they weren't
solely focused on the BROCKA genes in the suit. They
were kind of talking about genetic patents altogether. And as
part of this suit, A c LU did note that
(15:52):
about of all human genes are patented, a little bit
of trivia that I did not realize. Yeah, And at
the heart of this issue, it's the fact that the
patenting of this genetic sequence and and of the genetic
sequences of those other human genes that have been patented
as well. It violates a legal precedent that has long
been established that you can't patent products of nature. And
(16:15):
one of the examples that the a c LU offers
is that, say you want to get iron out of
the earth, you can't patent that iron. You can patent
the way that you get the iron out of the earth.
You can patent what you might make out of it,
but you cannot patent that naturally occurring substance, right, And
(16:37):
somebody else compared it to patenting eyeballs, and like, if
you just find an eyeball that pops out of somebody's head,
you can't pick it up, dust it off, and patent it,
to which I say, what are you doing picking up
eyeballs off the ground exactly? And which to which I say,
I really need to rethink my plan about my eyeball
empire that I'm I'm creating. Sorry, sorry about all those
(16:57):
eyeballs you've been collecting. You can have to find us
something else to do with them. It's called enterprises. Amazing,
So what happened on? What did happen? Well, I just
made a bad eyeball pun And on June thirteen, the
Supreme Court invalidated the Brocca patents and it ruled that
(17:21):
patents on human genes are invalid, which is a major
shift in patent law because of that note again that
around there of all human genes have already been patented,
and it overturns the Patent Office policy. But patents on
c DNA, which is complimentary DNA and man made DNA
(17:41):
molecules are okay. But scientists can provide genetic testing without
relying on that complimentary DNA. And so how did geneticists
Mary Claire King, who first discovered the Broca gene react,
She said, I am delighted. This is a fabulous result
for patients, physician scientists, and it is common sense. And
(18:03):
there were a lot of supporters of this, including the
American Medical Association. And Lori Andrews, a professor at the
Illinois Institute of Technology, Chicago Kent College of Law, could
that name be longer, broke it down for what this means,
and she said, basically, all genetic tests will become affordable
and more researchers will be able to look for cures.
(18:24):
And on that token, King also told Slate for about
what's next, she said, it's going to be developing multi
gene panels which are one stop shops for testing for
susceptibility to breast and ovarian cancers on many genes. It's
been a very high priority. And the test of they're
working on, King said has been called broke up b
(18:44):
r O c A and they've been using it for
a long time. But up until that Supreme Court decision
invalidating the patent, they had to mask the Brocco one
and two genes so that they wouldn't violate that patent
that Marriage Genetics had. And so when this development, these
multi gene tests that King is talking about can be
made available to people by many firms, not just Myriad,
(19:07):
And she says, in fact, I think they were on
the market straight after the ruling. And fun fact about
that Broca name, um she says it comes from the
nineteenth century French surgeon and pathologist Pierre Paul Broca, who
was the first person to describe inherited breast cancer in
families in a systematic way, and based on his work,
(19:29):
geneticists are currently trying to trace the relatives of those families.
But he looked at from the eighteen sixties to see
if they have those brocco one or two mutations. Science,
I know, I love you science, I love you so much.
And French French nineteenth century surgeon, French science, French science,
vulsual science. Yeah. Anyway, so I hope we Chris and
(19:54):
I have thrown a lot of stats at you, and
we've we've kind of glossed over some stuff. But I
hope this was informative, and you know, we do. It
is worth repeating and and re emphasizing that these mutations
are extremely rare. The last thing we want is for
you to be sitting there at home concerned that you
need to run out and get either genetic counseling or
(20:16):
a you know, a massively invasive surgery. Yeah. There's less
than a four percent prevalence rate of the mutations among
all ethnic groups, and around five to ten of cancers
are inherited, so it's still in the minority. The problem
with inherited cancers when it has that strong genetic link
is that they tend to be a lot more aggressive.
(20:37):
And also, BROCA is not the only gene mutation that
can contribute to breast row varying cancers, and they're up
to fifteen other genes that can also increase the risk,
which is why those multi gene panels that King is
talking about that are in development could be very helpful. Um.
And finally, just remember there are less invasive treatments than
(20:59):
prevent kit of double mystectomies like Angelina Jolie's that can
happen even if you test positive for one of those mutations.
So while you know it is important to remain vigilant
and to stay updated on our you know, our doctor's
appointments and health screamings and pab smears and all of
(21:21):
that kind of stuff. Um, the only thing that I
guess whether we would caution is to uh, to stay informed,
but not to panic. Right. Well, so let's hear from
listeners now. I would be interested to hear what your
reaction was to Angelina Jolie's op ed. If you have
breast or ovarian cancer that runs in your family, have
(21:43):
you gone through genetic testing or or counseling? I would
I would be interested to know what that process was. Like. Yeah,
Mom Stuff at Discovery dot com is where you can
send emails. You can also tweet us at Mom's Stuff
podcast or send us a message over on Facebook. And
while you're writing us. We are going to take a
(22:04):
quick break and we will get right back to a
couple of letters. And now back to our letters, Caroline.
We have gotten so many letters about short hair, a
lot of short haired ladies writing in and and this
first letter I'm gonna read, it's from Margot, she writes,
(22:25):
I'm a longtime short hair lady. My mom started me
out young with a pixie cut and continued until I
rebelled in my later elementary through middle school years. Once
I got to high school, I no longer felt the
need to blend in, so I cut all seventeen inches
off into a short hair cut, inspired by Audrey heat Broom.
The pixie stayed with me all through college, when I
learned how easy it is to cut and maintain it oneself.
(22:48):
I started cutting my hair in college, and now nine
years later, I haven't paid for a cut since it
feels very liberating to not have to worry about blow
drying or straightening. I use a tiny dab of cocoa
butter to give it a little extra texture every day.
But besides that, it is easy as pie. I too
have experienced some criticism. Kids often stare clearly trying to
figure out my gender. Once, an elderly Italian lady stare
(23:11):
to me for a good ten minutes before she finally
asked what my gender was. And I was even wearing big,
dangly earrings, a tiny tank top, and a skirt. I
have learned to laugh off these incidents and feel glad
that my hair can still surprise people and maybe open
someone's mind a little bit. Also about men, men young
and old, are constantly approaching me and complimenting me on
my striking hair. I actually get more complimentary attention with
(23:32):
short hair than with long. I've tried long hair for
a couple of years recently, but I felt less respected
at work, less confident out on the street, and more
frustrated than ever when I had to figure out something
to do with my hair. I'm sure these feelings had
more to do with how I felt about myself than
how I actually looked, But for me, the difference is amazing.
And she attached pictures of her with short hair versus
(23:54):
long hair, and you know what I'm gonna say that
I am also a fan of the short hair. It
is acute cut and the fact that she hasn't paid
for her hair cut and how long and that doesn't
have to do anything to it. Oh, Margo, you make
me wish I had a jaw on that cold way
a short hair cut, So thank you for your letter.
(24:14):
In for the pics, Margo and Kristen. I have a
Facebook message here from Tatiana about her short hair. She says,
I just heard your podcast about pixie cuts yesterday, and
I was so happy to hear some intelligent conversation on
the topic of women with short hair. I've had my
extra short hair for almost two years now, and I
love it. It was a totally liberating experience, and I
(24:36):
have never felt so confident or so much like myself
in my life. Sure, I had my fears while I
was in the salon chair. Is this a good idea?
What if I look bad? Will men still find me attractive?
But guess what, it was a good idea. I'm definitely
feeling sick, fyer than ever, and not to shoot my
own horn, I've actually attracted more men with short hair
than I ever did with long hair. By the way,
(24:58):
totally giggled when I heard the short hair infertile thing.
And now I have a new way to tease people
who asked me about my hair. Oh, why I cut
it this short, It's because I'm barren. So thank you, Tatiana.
You do look adorable in your profile picture, and we
appreciate you writing in. Yes, indeed, and thanks to everyone
who has written in and tweeted us and facebooked us
(25:19):
and all that good stuff. Again. Our email addresses mom
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(25:41):
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Does it how stuff works dot com
Welcome to stuff Mom Never told you. From how Stuff
Works dot Com. Hello, and welcome to the podcast. I'm
Christen and I'm Caroline. And as we mentioned in a
listener mail segment a little while ago, we were thinking
about doing an update on the breast cancer jeans Brocco
(00:25):
one and two, because we did an episode a long
time ago, years ago now on gene patenting and these
breast cancer jeans which a company called Mary Genetics had patented,
and since there was the Supreme Court case about that
patenting and also the big news with Angelina Jolie's preventative mastectomy,
(00:50):
we thought this definitely needed some updates, right, Yeah, just
to kind of familiarize you. If you, you know, haven't
heard of it, maybe you didn't listen to the past episode,
tisc tisc, But yeah, like Christen said, it really entered
the news big time on May fourteenth, when Angelina Jolie
published her op ed in The New York Times explaining
her decision to have a preventive double in the stectomy
(01:13):
after finding out that she carried a faulty Brocco one gene,
which increased her risk of developing breast and ovarian cancer
by about eight, seven, and fifty respectively. Doing this. Having
this procedure effectively cut Jolie's cancer risk to five per cent.
And she had genuine reason to worry because her mother,
(01:33):
Marshall Line Bertrand, died at age fifty six of ovarian
cancer in two thousand seven, and on June eighth of
this year, her mother's sister, Debbie Martin, died of the
same disease. Now, Martin had found out that she also
carried the faulty Brocco one gene, but was not aware
of it until after her two thousand four cancer diagnosis.
(01:55):
And so it's been a really intense spring or these
cancer genes because right after the passing of Debbie Martin
on June thirteenth, the Supreme Court invalidated the myriad patents
on those BROCA genes. Yeah, so just to back up
a little bit, let's talk about what those genes actually are.
(02:18):
It's Brocco one and Broca two, and a lot of
this information, by the way, is coming from the National
Cancer Institute, and the b r c A stands for
Breast Cancer Susceptibility Gene one and two. And everybody, male
and female, we all have two copies of each gene,
and we get one from mom and from dad. And
(02:39):
these are human genes that belong to a class known
as tumor suppressors. So when functioning normally, the protein that
these genes produce actually helps prevent cells from growing and
dividing too fast and developing those tumors. And so researchers
believe that a defective or a saying Brocco one or
(03:01):
two protein is unable to help prepare damage DNA or
fixed mutations that occur in other genes, and so those
mutations are linked to breast and ovarian cancer. Right, So
it's not that if you have it's not an issue
of having Bracco wan or Brocka two. We all have it.
It's an issue of having a faulty gene that's just
(03:21):
not doing its job. And so these Brocca mutations are
responsible for an estimated five to ten percent of all
breast cancers and ten to fifteen percent of all ovarian cancers,
and both men and women who inherit these mutated Brocca
one or two genes are greatly at risk of developing cancer.
For women, it increases the risk of breast cancer to
(03:44):
six compared to the population wide risk of twelve percent,
and so essentially it amplifies your breast cancers by five
and then um for women, it presents a fifteen to
forty percent risk of ovarian cancer compared to one point
four percent risk for the general population. And this is
(04:07):
important to note though, that the studies on the Broca
genes have been conducted on large families with cancer history,
so scientists do say that there could be some other
environmental and genetic factors at play. They are still figuring
out precisely what these genes do, but but those are
(04:27):
and I know we just tossed out a lot of
percentages and risk factors, but to sum it up as
simply as possible, not a lot of people have these
Brocco one in two mutations, but for that subset of
people like Angelina Jolie for instance, who do have them,
the risk of developing breast and ovarian cancer is greatly increased. Right.
(04:51):
And the Brocco one gene was discovered by geneticist Mary
Claire King in Bracca two was discovered a year later.
She talked to Slate about her work in this field,
and she said that it really confirmed the idea of
genetic predisposition to cancer. My work showed that one could
use the tools of genetic analysis to prove the existence
(05:12):
of genes responsible for an inherited form of a major
common disease, and that you can parse out the inherited portion.
So Mary Claire King is really a trailblazer in this field. Yeah,
And she didn't have a lot of backing when she
was initially doing the work that led up to that
discovery of the braco in gene. She was essentially working
(05:34):
with a very small pool of funding from the National
Institutes of Health and that was it. She was almost
doing it as sidework because she was really committed to it.
So um so, yeah, it was it was huge. And
we'll get back into what those genes mean for women
who have them, um But to get into more of
(05:56):
the business side of these genes and that patenting case
that we mentioned at the top of the podcast that
was recently struck down by the Supreme Court. Shortly after
Mary Claire King discovered braccawan, this company called Marria Genetics
came along and patented the genes sequence and and jeans
(06:17):
have been patented before. Jeans especially linked to other kinds
of diseases. But this is what Mary Claire King said
to Slate. Myriad insisted that it was the only entity
that could perform the tests and was aggressive in shutting
down anyone else because of that patent that at pursued.
And this force other researchers who have to request Myriad's
(06:39):
permission before they could look at the genes. So you
can imagine how that would slow down or bottleneck the
flow of research into the development of breast and ovarian cancers. Right. Absolutely,
these patents gave the company rights to future mutations on
BRACA two and power to exclude others from providing genetic testing.
(07:00):
And so what does that do when only one provider
can give you a service? The price skyrocket. So the
company was charging upwards of three thousand dollars per test,
which is hefty. Well, speaking of that test, what exactly
is this is a test that Angelina Jolie got um.
This also involves something called genetic counseling that happens before that.
(07:25):
So when you go in for a BROCA gene test,
what's going to happen is that they're going to do
a DNA analysis to identify those harmful mutations that we've
talked about that leads to that increased risk for developing
breast row varian cancer. But first you're probably gonna go
through something called genetic counseling, which is a risk assessment
(07:45):
based on a person's personal and family medical history. And
it's going to include discussions about things like the appropriateness
of genetic testing, the types of tests that might be used,
the technical accuracy of the test, medical implications for a
positive or negative result, psychological risk, risk of passing on
(08:06):
mutations to children. Basically, it's going to give you a
rundown of what might happen and whether even gene testing
is the best course for you to take. You might
not even need to do it right. And it really
is not offered to or performed on women who have
an average risk of breast rovarian cancers. It's really focused
on people who are likely to have the inherited mutation
(08:29):
based on that personal or family history, or women who
have specific types of breast cancer. And an interesting thing
to note is how focused it is in a particular population.
Uh It's particularly present in members of the Jewish community
who can trace their roots back to Central or Eastern Europe,
known as Ashkenazi Jews. They were for centuries and isolated population,
(08:51):
and this is coming from the Fred Hutchinson Cancer Research Center.
They said that one out of forty people of Ashkenazi
Jewish ancestry have a mutation in Brocco one or two,
compared to about one out of every eight hundred members
of the general population. So they are great candidates for
getting that genetic counseling to possibly get the DNA to
(09:12):
and outside of the Asha Nazi population, the types of
family history that a genetic counselor might look at would
be whether or not you have a first degree relative
like a mother or a sister who developed breast or
avarian cancer, or multiple second degree relatives like cousins and
aunts um and what happens if you have a positive
(09:36):
result from that gene test, well, it means that you
have that genetic mutation, and if it's on the Brocca
one gene, that means you have a sixty eight percent
lifetime risk of breast cancer and a thirty percent lifetime
risk of ovarian cancer, and a positive Brocca two result
means that you have a fifty to seventy percent lifetime
risk of breast cancer and attend to twenty percent lifetime
(09:58):
risk of ovarian cancer, but that doesn't necessarily mean that
you should go the Angelina Jolie route of having the
preventative double mastectomy. There are a range of options for
what you can do if you do have a positive
test result, and this was something that a lot of
(10:19):
doctors wanted to remind women when the Angelina Jolie op
ed came out in the New York Times and everybody
was talking about it, and obviously for women, especially with
a history of breast cancer, it got a lot of
them thinking whether or not they should go ahead and
get that double mastectomy just to lower their risks, and
and that's actually not necessary in a lot of cases.
(10:41):
That's pretty much the most invasive thing that you can do,
and for ovarian cancer, Julie actually decided against having her
ovaries removed, but that's another thing that can happen. But
on the less invasive side, options include surveillance, which is
just a regular cancer her screenings. Um you might have
(11:01):
prophylactic surgery like Jolie. Their their risk avoidance tactics, and
then there's chemo prevention, which you can also do, which
typically involves taking the drug to moxa fen which has
been linked to lowering the spread of breast cancer. Well,
Jolie definitely had quite an effect on this conversation. I mean,
we're talking about it right now to you. Um. A
(11:25):
story in the Miami Herald from June quoted some healthcare
professionals who have seen a definite difference since Jolie's op
ed appeared. Maxine chang Chin, who is a cancer risk
assessment counselor at Memorial Healthcare System in Broward, Florida, said
that it did open up the conversation. She said, some
patients heard about it and now call and say they
(11:47):
want to have genetic testing done, and they're also she
was explaining, just kind of more open and more comfortable
with the idea because Jolie is also very young to
have made this major decision. But at the same time,
because there is no standard criteria for Brocca genetic testing
at the moment. In other words, there isn't a standard
(12:09):
checklist of you know, if you have this, this, this,
then you should get it. That's why things like the
genetic counseling exists. As some people do caution that while
it is great, visually raised the awareness again the path
that she took is not necessarily the path that would
be appropriate for all women, regardless of whether they test
(12:32):
positive for Brocco one or two. And there is a
study of more than women in nine countries who did
test positive for one of those mutations, and it showed
that many American women in particular have chosen to have
their breasts or ovaries removed once they learned that they
carried the genes. But again, you know, that's one thing
(12:57):
on a menu of options for for what might happen UM.
And it's kind of on a side note, and I
feel like this is something that deserves maybe more attention
and possibly its own podcast episode. But but there's been
a bit of a medical downside to our vigilance, some
might even call it over vigilance towards breast cancer in
(13:20):
particular UM. In the New England Journal of Medicine, a
study recently found that one point five million women have
been needlessly treated for cancers in the past thirty years,
largely due to faulty mammogram results, and as many as
a third of tumors detected by mammograms are so small
and slow growing that they'll never develop into cancer, and
(13:43):
so on. The one end, you might say, well, better
to be safe than sorry. But on the other end,
there are also a number of doctors wondering whether or
not the age for mammograms when you start getting mammograms
should go up, or if our routine mammograms shoulder apps
be less routine because there's a lot of invasive surgery
(14:05):
happening that doesn't necessarily need to happen. So just one
thing to keep in mind. And also when it comes
to breast cancer versus ovarian cancer. While breast cancer thanks
largely to organizations like Susan g comb and that have,
through their pink campaigns, raised so much awareness about breast cancer,
(14:27):
and just because breast cancer, I would say it's the
most visible cancer in our culture, whereas ovarian cancer is
usually more deadly to women even though statistically or less
likely to develop it. But it's more deadly because we
usually catch it later on, because our vigilance is really
focused on breast cancer more than anything else. So just
(14:50):
a side note to keep in mind. Right, Well, we
told you earlier about how the Supreme Court did away
with the patent of the braca jeans. Well, let's let's
get into that fight a little bit. Um way back when.
In two thousand nine, the a c l U, along
with the Public Patent Foundation, sued the Patent and Trademark Office,
(15:10):
Maria Genetics, and the University of Utah Research Foundation, arguing
that patenting pure genes is unconstitutional and hinders research for
a cancer cure. They basically said that because patenting the
genes limits research and the free flow of information, it
violates the First Amendment, and Arthur Kaplan, who's the director
(15:31):
of the Center for Bioethics at the University of Pennsylvania
at the time, was quoted as saying, it's like trying
to patent the moon. You didn't do anything to create it.
You just discovered something that already existed. So they weren't
solely focused on the BROCKA genes in the suit. They
were kind of talking about genetic patents altogether. And as
part of this suit, A c LU did note that
(15:52):
about of all human genes are patented, a little bit
of trivia that I did not realize. Yeah, And at
the heart of this issue, it's the fact that the
patenting of this genetic sequence and and of the genetic
sequences of those other human genes that have been patented
as well. It violates a legal precedent that has long
been established that you can't patent products of nature. And
(16:15):
one of the examples that the a c LU offers
is that, say you want to get iron out of
the earth, you can't patent that iron. You can patent
the way that you get the iron out of the earth.
You can patent what you might make out of it,
but you cannot patent that naturally occurring substance, right, And
(16:37):
somebody else compared it to patenting eyeballs, and like, if
you just find an eyeball that pops out of somebody's head,
you can't pick it up, dust it off, and patent it,
to which I say, what are you doing picking up
eyeballs off the ground exactly? And which to which I say,
I really need to rethink my plan about my eyeball
empire that I'm I'm creating. Sorry, sorry about all those
(16:57):
eyeballs you've been collecting. You can have to find us
something else to do with them. It's called enterprises. Amazing,
So what happened on? What did happen? Well, I just
made a bad eyeball pun And on June thirteen, the
Supreme Court invalidated the Brocca patents and it ruled that
(17:21):
patents on human genes are invalid, which is a major
shift in patent law because of that note again that
around there of all human genes have already been patented,
and it overturns the Patent Office policy. But patents on
c DNA, which is complimentary DNA and man made DNA
(17:41):
molecules are okay. But scientists can provide genetic testing without
relying on that complimentary DNA. And so how did geneticists
Mary Claire King, who first discovered the Broca gene react,
She said, I am delighted. This is a fabulous result
for patients, physician scientists, and it is common sense. And
(18:03):
there were a lot of supporters of this, including the
American Medical Association. And Lori Andrews, a professor at the
Illinois Institute of Technology, Chicago Kent College of Law, could
that name be longer, broke it down for what this means,
and she said, basically, all genetic tests will become affordable
and more researchers will be able to look for cures.
(18:24):
And on that token, King also told Slate for about
what's next, she said, it's going to be developing multi
gene panels which are one stop shops for testing for
susceptibility to breast and ovarian cancers on many genes. It's
been a very high priority. And the test of they're
working on, King said has been called broke up b
(18:44):
r O c A and they've been using it for
a long time. But up until that Supreme Court decision
invalidating the patent, they had to mask the Brocco one
and two genes so that they wouldn't violate that patent
that Marriage Genetics had. And so when this development, these
multi gene tests that King is talking about can be
made available to people by many firms, not just Myriad,
(19:07):
And she says, in fact, I think they were on
the market straight after the ruling. And fun fact about
that Broca name, um she says it comes from the
nineteenth century French surgeon and pathologist Pierre Paul Broca, who
was the first person to describe inherited breast cancer in
families in a systematic way, and based on his work,
(19:29):
geneticists are currently trying to trace the relatives of those families.
But he looked at from the eighteen sixties to see
if they have those brocco one or two mutations. Science,
I know, I love you science, I love you so much.
And French French nineteenth century surgeon, French science, French science,
vulsual science. Yeah. Anyway, so I hope we Chris and
(19:54):
I have thrown a lot of stats at you, and
we've we've kind of glossed over some stuff. But I
hope this was informative, and you know, we do. It
is worth repeating and and re emphasizing that these mutations
are extremely rare. The last thing we want is for
you to be sitting there at home concerned that you
need to run out and get either genetic counseling or
(20:16):
a you know, a massively invasive surgery. Yeah. There's less
than a four percent prevalence rate of the mutations among
all ethnic groups, and around five to ten of cancers
are inherited, so it's still in the minority. The problem
with inherited cancers when it has that strong genetic link
is that they tend to be a lot more aggressive.
(20:37):
And also, BROCA is not the only gene mutation that
can contribute to breast row varying cancers, and they're up
to fifteen other genes that can also increase the risk,
which is why those multi gene panels that King is
talking about that are in development could be very helpful. Um.
And finally, just remember there are less invasive treatments than
(20:59):
prevent kit of double mystectomies like Angelina Jolie's that can
happen even if you test positive for one of those mutations.
So while you know it is important to remain vigilant
and to stay updated on our you know, our doctor's
appointments and health screamings and pab smears and all of
(21:21):
that kind of stuff. Um, the only thing that I
guess whether we would caution is to uh, to stay informed,
but not to panic. Right. Well, so let's hear from
listeners now. I would be interested to hear what your
reaction was to Angelina Jolie's op ed. If you have
breast or ovarian cancer that runs in your family, have
(21:43):
you gone through genetic testing or or counseling? I would
I would be interested to know what that process was. Like. Yeah,
Mom Stuff at Discovery dot com is where you can
send emails. You can also tweet us at Mom's Stuff
podcast or send us a message over on Facebook. And
while you're writing us. We are going to take a
(22:04):
quick break and we will get right back to a
couple of letters. And now back to our letters, Caroline.
We have gotten so many letters about short hair, a
lot of short haired ladies writing in and and this
first letter I'm gonna read, it's from Margot, she writes,
(22:25):
I'm a longtime short hair lady. My mom started me
out young with a pixie cut and continued until I
rebelled in my later elementary through middle school years. Once
I got to high school, I no longer felt the
need to blend in, so I cut all seventeen inches
off into a short hair cut, inspired by Audrey heat Broom.
The pixie stayed with me all through college, when I
learned how easy it is to cut and maintain it oneself.
(22:48):
I started cutting my hair in college, and now nine
years later, I haven't paid for a cut since it
feels very liberating to not have to worry about blow
drying or straightening. I use a tiny dab of cocoa
butter to give it a little extra texture every day.
But besides that, it is easy as pie. I too
have experienced some criticism. Kids often stare clearly trying to
figure out my gender. Once, an elderly Italian lady stare
(23:11):
to me for a good ten minutes before she finally
asked what my gender was. And I was even wearing big,
dangly earrings, a tiny tank top, and a skirt. I
have learned to laugh off these incidents and feel glad
that my hair can still surprise people and maybe open
someone's mind a little bit. Also about men, men young
and old, are constantly approaching me and complimenting me on
my striking hair. I actually get more complimentary attention with
(23:32):
short hair than with long. I've tried long hair for
a couple of years recently, but I felt less respected
at work, less confident out on the street, and more
frustrated than ever when I had to figure out something
to do with my hair. I'm sure these feelings had
more to do with how I felt about myself than
how I actually looked, But for me, the difference is amazing.
And she attached pictures of her with short hair versus
(23:54):
long hair, and you know what I'm gonna say that
I am also a fan of the short hair. It
is acute cut and the fact that she hasn't paid
for her hair cut and how long and that doesn't
have to do anything to it. Oh, Margo, you make
me wish I had a jaw on that cold way
a short hair cut, So thank you for your letter.
(24:14):
In for the pics, Margo and Kristen. I have a
Facebook message here from Tatiana about her short hair. She says,
I just heard your podcast about pixie cuts yesterday, and
I was so happy to hear some intelligent conversation on
the topic of women with short hair. I've had my
extra short hair for almost two years now, and I
love it. It was a totally liberating experience, and I
(24:36):
have never felt so confident or so much like myself
in my life. Sure, I had my fears while I
was in the salon chair. Is this a good idea?
What if I look bad? Will men still find me attractive?
But guess what, it was a good idea. I'm definitely
feeling sick, fyer than ever, and not to shoot my
own horn, I've actually attracted more men with short hair
than I ever did with long hair. By the way,
(24:58):
totally giggled when I heard the short hair infertile thing.
And now I have a new way to tease people
who asked me about my hair. Oh, why I cut
it this short, It's because I'm barren. So thank you, Tatiana.
You do look adorable in your profile picture, and we
appreciate you writing in. Yes, indeed, and thanks to everyone
who has written in and tweeted us and facebooked us
(25:19):
and all that good stuff. Again. Our email addresses mom
Stuff at Discovery dot com. You can follow us on
Twitter at mom Stuff podcast, and like us over on
Facebook and leave a message there. We're on Tumbler as
well as stuff Mo'm Never told You dot tumbler dot com.
And last, but certainly not least, we're on YouTube. We
have new videos four times a week that you should
totally come over and watch. We are at YouTube dot
(25:41):
com slash stuff mom Never Told You, and don't forget
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