What to Do If You Have a Positive Genetic Test
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What to Do If You Have a Positive Genetic Test


Raluca Kurz: So, individuals who carry mutations
in what we now consider higher risk genes for breast cancer such as BRCA1, BRCA2, and
probably two should consider seeing a genetic counselor if they haven’t already done so.
Well, tentatively they can discuss with their primary care provider the options which should
include chemoprevention, surveillance, as well as surgical prevention. When it comes
to breast cancer risk, chemoprevention comes in the form of tamoxifen use. Tamoxifen is a drug that has been traditionally
been given to breast cancer patients, however, studies have shown that taking tamoxifen prior
to developing breast cancer can significantly reduce the risk of developing the disease. The second option for reducing breast cancer
risk in BRCA mutation carriers includes increase surveillance. This increased surveillance
should include a breast MRI on an annual basis as well as a mammogram on an annual basis.
Ideally, these should be interspersed every six months, so that some type of imaging is
performed on the breast twice a year. Regarding prevention for breast cancer, currently the
only option that we have is a bilateral prophylactic mastectomy with immediate reconstruction. These types of procedures are not easy to
undergo from the psychological, emotional, and medical standpoint and all of these discussions
and decisions should be well considered and discussed with the healthcare provider involved
in the patient’s care. When it comes to ovarian cancer, the early detection is not
as good as we have for breast cancer, therefore BRCA1 and BRCA2 mutation carriers should consider
the option of ovarian cancer prevention once they have completed childbearing. Typically,
this involves removing the ovaries and the tubes in a prophylactic bilateral salpingo
oophorectomy. Again, this is a decision that needs to be
thoroughly embedded with the healthcare provider involved in the patient’s care. Screening
does exist for ovarian cancer and it is in the form of a transvaginal ultrasound ideally
with color Doppler accompanied by CA125 blood test, both to be performed concomitantly every
six months. Chemoprevention for ovarian cancer is actually
the birth control pill, so studies have shown that individuals who take the birth control
pill for five years or more uninterruptedly have their risk of ovarian cancer whether
they are mutation carriers or in the general population, so the birth control pill is a
useful technique to reduce ovarian cancer risk in BRCA carriers. There are some studies
that have shown there is an increase risk for breast cancer in individuals who take
the birth control pill. However, those studies were done years ago and the dosage for the
birth control pill was much higher than currently available in our prescription. This risk should
be definitely discussed with the healthcare provider involving the patient’s care. Ideally,
a combination of any and all of those techniques should provide the patient with the best tools
to reduce breast cancer risk and ovarian cancer risk as well as preventable for those diseases.

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