- Thank you so much for joining us today.
My name is Dr. Akiko Chiba.
I'm a breast surgical oncologist
at Wake Forest Baptist Health.
Today I would like to talk about genetic testing,
and particularly focusing on two genetics mutations
called BRCA1 and BRCA2.
Those are the most common genetic mutations we have
that leads to someone having breast cancer.
So, genetic mutation that causes breast cancer
is only seen in about 5% to 10% of the breast cancers,
however, I do think it's very important
for someone who has been diagnosed with breast cancer
to find out if they are at increased risk
of carrying these genetic mutations.
These genetic mutations are something that can be passed on
from either your father or mother.
And if you have the genetic mutation,
you have 50% chance of passing this mutated gene
to your children,
which includes your sons and your daughters.
So, what does it mean if you have a genetic mutation?
So, people carry this gene are at increased risk
of getting breast and ovarian cancer.
So if you have this genetic mutation,
up to 80% of the patient will have breast cancer
in their lifetime,
which is significantly higher than the average population,
which is about 12%.
So ovarian cancer risk is up to about 40%
in someone with BRCA1 mutation,
and about 20% in someone with BRCA2 mutation.
And BRCA1 and BRCA2 mutations are similar,
in that they both increase the chance of getting
breast and ovarian cancer,
but it could also increase
the chance of other cancers as well.
So, if you are diagnosed with breast cancer,
who are the people who should be tested for this mutation?
So, if your cancer is diagnosed early,
which we consider before age of 50, is early diagnosis,
and we do recommend genetic testing,
and also if you have multiple close family members
that had had either breast or ovarian cancer.
Close relatives are,
especially, your mother or your sister
or your daughter.
Those are called first-degree relatives.
And the chance of having genetic mutations is higher
if you have closer relatives with breast cancer diagnosis.
And if one of them is at least diagnosed at,
earlier than age 50,
then that also increases the chance
that you might be having a genetic mutation.
And the other type, special type of breast cancer,
called triple negative breast cancer,
is often associated with BRCA1 mutation.
Triple negative breast cancer means that
the breast cancer does not have estrogen receptor
or progesterone receptor,
or her HER2/neu receptor.
So these tumors are called triple negative,
because all three of the receptors are negative.
If you are diagnosed with triple negative breast cancer
before the age of 60,
we would also recommend genetic testing.
If you have two breast cancers in a same person,
we would also recommend genetic testing.
And if you're a male with breast cancer,
or if you have a family member that's a male
who had breast cancer,
that is another indication for testing.
And another recommendation is someone
with Ashkenazi Jewish descent, who has breast cancer,
they would be recommended to have the testing.
So, if you do not have cancer diagnosis,
but you are curious about getting genetic testing,
those are also available.
And people who would be recommended to do that
would be someone who's close relative has been diagnosed
with genetic mutation.
And let's say, for example,
if your mother has the genetic mutation,
then you would have 50% chance
that you would be carrying this gene,
so you would be recommended to undergo testing
to find out if you actually carry this gene or not,
because, depending on the result,
the screening recommendation is different,
and, also, surgery may be recommended depending on the risk.
Let's see.
So, how is this gene tested?
So there's two ways of testing,
and one way is just a blood test,
and the other way, if you don't like blood draws,
we can use your saliva to test for the mutation.
And the test takes about two to three weeks
to get the result.
It used to take six weeks,
but now we have improved technology,
and with expedited testing we can get your result
in about two to three weeks.
So, what should you do
if you do have BRCA1 and BRCA2 mutation?
And if you also do have cancer diagnosis,
surgical treatment for breast cancer
is either lumpectomy or mastectomy.
In lumpectomy, only a portion of the breast is removed,
where in mastectomy, the entire breast is removed.
So, someone with the genetic mutation,
they might consider having mastectomy instead of lumpectomy,
since having an additional cancer at later date
is significantly increased,
and also the side without the breast cancer
is a normal breast,
but some people may decide to remove
the other healthy breast to prevent cancer from
coming back in the other breast as well.
And if you have the genetic mutation,
the chance of getting breast cancer in the other breast
is about 30%,
where if you didn't have the mutation,
the risk of getting another cancer on the opposite breast
is about 5%.
So, there's a significant increase
in the risk if you do carry this mutation.
And it is not necessary to undergo mastectomy,
but if you choose to undergo lumpectomy,
additional screening with mammogram and MRI
would be recommended for these patients.
And the other thing that we would recommend
is screening for their ovarian cancer,
since the risk of ovarian cancer is 20% to 40%,
and there is no good screening method for ovarian cancer.
We do still recommend vaginal ultrasound,
and also blood tests called CA 125,
but neither of the tests are very sensitive,
and it doesn't lead to improved outcome of the patients.
So if you are carrying this mutation,
we would recommend you
to have prophylactic salpingo-oophorectomy,
which means we would recommend your ovaries
and your fallopian tube to be removed,
so that you do not develop cancer.
And we would generally recommend that
at about age 35 to 40,
or when they're done with their child bearing.
And another good thing about removing the ovaries
with the BRCA mutation,
is that removing the ovaries does decrease the chance
of developing breast cancer by 50%.
So if you decide to keep your breast
after breast cancer treatment,
and if you remove your ovaries,
that's additional 50% reduction
of your future breast cancer risk.
Let's see.
So, if you do not have cancer,
and you are diagnosed with this genetic mutation,
what should you do?
So, there are three things that we could do.
You could do close screening,
which involved annual mammogram and MRI,
and breast exam every six months.
And that would be recommended to start about age 30,
or if you have family member that was diagnosed
with breast cancer at very early age,
we will recommend 10 years earlier
than the relative of the youngest age
who's been diagnosed.
And the other option would be chemoprevention,
which means that you take a medication called Tamoxifen
to reduce the risk of breast cancer in the future.
But since I mentioned earlier that BRCA1 mutation patients
have triple negative breast cancer,
which is not dependent on estrogen or progesterone to grow,
so Tamoxifen is a medication that blocks the estrogen.
So, in BRCA1 mutation patients
the benefit of the chemoprevention
might not be that beneficial,
but there's not a lot of study about this.
But we do think there may be some benefit
to taking chemo prevention.
The other modality to prevent your future breast cancer
is called prophylactic mastectomy,
which means that you would remove your healthy breast
to prevent cancer from occurring in the future.
So, in this case,
often times we can offer
what's called skin-sparing mastectomy,
where we would save all the skin overlying the breast,
and plastic surgeon will do the reconstruction
at the same time,
which is called immediate reconstruction.
And we can also offer another operation
called nipple-sparing mastectomy,
where the nipple is spared,
so the cosmetic outcome is superior
to other types of mastectomy.
So, after this operation,
the entire breast tissue will be removed,
with the incision, sometimes underneath the breast fold,
so, the cosmetic outcome would be similar
to what you would have with breast augmentation.
An implant would be placed after the breast is removed.
And this can also be performed at the same time
as the breast removal.
All right, I think we're getting some questions.
Let's see.
"If I've already had breast cancer,
"is it worth getting tested?"
The answer is yes.
If you are already had cancer
and you were never offered this test,
or maybe you were diagnosed before the genetic testing
was available,
I would still recommend you to go back to your physician
and have genetic testing.
The reason for that is,
because it may not change what we do for you,
but it may make a big difference in your family member.
If you have a daughter or a son,
and if you have the mutation,
you have 50% chance that you could've passed
on this gene mutation,
so you would want to find out about that.
And in addition to BRCA1 and BRCA2 testing,
we now have discovered handful of other genes
that may be related to breast cancer.
So if you already had testing 10 years ago,
and if you were negative for BRCA1 or BRCA2,
I would also recommend these group of patients
to go back and ask for panel testing,
which may be also helpful.
Okay, I have another question.
"What age do you recommend to get your first mammogram."
So, the screening mammogram is recommended
at starting age 40,
and it's a once and year screening.
But this is for someone with average risk,
which means that you don't have strong family member,
or you don't have family member with ovarian cancer.
And there are a few other cancers
that may be related to breast cancer,
such as pancreatic cancer.
So, if you have family member
with these other types of cancers,
you might want to speak to your physician
or visit high-risk breast clinic to find out
what your risk would be.
And if you are considered high-risk,
which means your lifetime risk of breast cancer
is more than 20%,
these patients are recommended to have screening
with mammogram and MRI.
And the age might be also different
depending on the first age,
earliest age of your close family member
being diagnosed with breast cancer.
So, for example, if your mother was diagnosed
with breast cancer at age 40,
then I would recommend their close relatives
to start screening at age 30.
Okay, next question:
"Is the saliva test as accurate as the blood test?"
Hmm, great question.
It is just as accurate,
but sometimes we don't have enough DNA in the saliva,
depending on how much saliva you produced.
So there's a time that we don't have enough DNA
in the sample to run the test.
But if we have enough DNA,
the test is just as accurate,
but you do have chance of not having enough DNA,
and not being able to have the result back.
All right, next question:
"What are the different stages of breast cancer."
So, breast cancer is divided
into Stage 1, Stage 2, Stage 3, and Stage 4.
So in Stage 1 breast cancer,
the breast cancer is confined to just the breast,
and then in Stage 2 and 3,
the tumor might be very large in the breast,
or you'll have metastasis to your lymph node,
that's the closest lymph node to your breast,
and that's the first place the breast cancer would go,
is lymph node underneath the armpit.
So, if you have lymph involvement,
that would be considered either Stage 2 or Stage 3.
And once you get to Stage 4,
that means you have breast cancer that's outside
of the breast or the lymph node,
which means the cancer cell has already spread
to places like your brain, your bones, liver,
and your lungs.
All right.
Well, thank you so much for joining us today.
If you have further questions,
please visit wakehealth.edu.
Thank you so much.