You may already know that about 13 percent of women will
develop breast cancer at some point in their life, according to the National Cancer Institute. And you may also know that about 1.4 percent of women will
develop ovarian cancer.
But did you know that a woman's risk of developing breast or ovarian cancer
increases significantly if she is found to have inherited a harmful mutation in
the BRCA1 gene or the BRCA2 gene?
In
fact, 55-65 percent of women with BRCA1 mutation and 45 percent of women with
the BRCA2 mutation will develop breast cancer before the age of 70. By
contrast, according to the most recent estimates, 39 percent of women who
inherit the BRCA1 mutation and
11-17 percent of women who inherit the BRCA2
mutation will develop ovarian cancer by age 70.
Men who are found to have these mutations also have an
increased risk of breast cancer, as well as additional types of cancer, such as
prostate or colon cancer.
What are BRCA
genes?
According to
NCI, BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and help to ensure the stability of the cell's genetic material. When either of these genes is mutated, DNA
damage may not be repaired properly. As a result, the cells are more likely to
develop cancers.
How do you know if
you should be tested?
BRCA mutations are inherited, either from the mother’s or
the father’s side of the family. If you have a family history of breast cancer,
ovarian cancer, colon cancer, pancreatic or prostate cancer, then you could be
recommended for testing for the BRCA mutations. If you are found to have the
mutation, your children are also at higher risk.
“It’s important for those men and women who think they may
be at a higher risk to come listen and find out whether testing would be
appropriate for them,” says Dr. Angela Keleher, a breast cancer surgeon formerly with Nuvance Health Medical Practice in Poughkeepsie. “There are so many myths out there about
the risks involved with genetic testing. We want people to know what they can
do, to make educated decisions and to know what choices are available to them
during and after testing.”
The testing itself in non-invasive, says Keleher. “It’s a
rinse and spit-type test,” she says. “Completely painless.”
“We hope people will come away with the right information
for testing,” he says. “Knowledge about the risk of gene mutations and the
available tests is valuable and powerful, not just for the individual but for
their siblings and children.” says Dr. Jed Turk, an OB/GYN with Optum in Fishkill, New Paltz, and Poughkeepsie.
What if I have the
mutation?
Knowing you have the mutation is only the first step. The
experts at the forum will also discuss the choices available to patients after
the fact.
“Discovering a BRCA mutation is not a death sentence,” says
Keleher. “Instead, it gives you the chance to ask, ‘How can I be proactive with
my life?’ Everyone is different and our team individualizes the program for
you. It’s good to have a team of people working with you and your life
choices.”
Turk looks at the testing as an opportunity to peer into a
crystal ball. “It allows you to take a preemptive approach,” he says. “The
knowledge can be a gift and offer the opportunity to change your outcome.”