Cancer. A diagnosis that no one wants to hear.
In the United States alone, breast cancer is the most common
cancer for women after nonmelanoma skin cancer and is also the second leading
cause of cancer death.
Recently, the U.S. Preventative Services Task Force (USPSTF)
released their newest recommendation on risk assessment, genetic counseling and
genetic testing for BRCA-related cancer.
BRCA, also known as the breast cancer gene, has two
variations – BRCA1 and BRCA2, which every human has. According to the National
Breast Cancer Foundation, the BRCA genes do not cause breast cancer, instead
they play a role in preventing the disease. These genes help repair DNA breaks
that can lead to cancer and the uncontrolled growth of tumors, so because of
their role, the BRCA genes are also known as tumor suppressor genes.
In some patients, those tumor suppressor genes do not work
properly, which leads to gene mutations. It was stated in the USPSTF’s
recommendation that harmful mutations of BRCA1/2 are associated with an
increased risk for breast, ovarian, fallopian tube and peritoneal cancer, in
addition to male breast cancer, pancreatic cancer, prostate cancer, melanoma of
the skin and eye and an increased risk of lymphomas and leukemias.
Shana Coker, ARNP, MSN, Genetic Nurse Practitioner at
UnityPoint Health – Finley Hospital and the Wendt Regional Cancer Center, said
gene mutations is not how patients get cancer, instead it puts them at a
heightened risk for developing cancer symptoms.
“Having a gene mutation isn’t something that gives you
cancer,” Coker said. “People just don’t have as much protection as they should
against certain cancers. You can have an increased risk of cancer that’s not
due to a gene mutation that we can pick up right now, but we can still do
things to help people manage those risks and get them down, more near the
general population risks.”
Across the United States, BRCA1/2 mutations occur in an
estimated 1 in 300 to 500 women, accounting for 5 to 10% of breast cancer cases
and 15% of ovarian cancer cases.
BRCA1/2 gene mutations are known to occur in women with a
family history of breast, ovarian, fallopian tube or peritoneal cancers, but
the USPSTF’s new recommendation has included women with a personal history of
breast, ovarian, fallopian tube or peritoneal cancer, along with women with
ancestry association with breast cancer related to BRCA1/2 gene mutations.
However, the USPSTF has suggested three steps to better
understand your genes and your risk of developing various cancers.
The first is to visit with your primary care provider, who
should be assessing all of the “at-risk” patients using an appropriate brief
familial risk-assessment tool. At primary care visits, providers should ask
patients about specific types of cancer and primary cancer sites, in which
their family members were affected, along with other details, such as age at
diagnosis, age at death, sex of affected family members and if they had
multiple types of primary cancer.
If a patient has a positive result after utilizing the
risk-assessment tool, then it would be wise to follow up with genetic
counseling and if needed, genetic testing.
With genetic counseling and testing, Coker knows the significance
of a patient understanding their family and cancer history.
“When a patient comes to us, we go through and draw out their
whole family tree, which we call a pedigree of three generations,” Coker said.
“We look at everyone in the family who’s had cancer, who hasn’t had cancer –
sometimes that’s just as important. We look at all of that to see if there is a
likelihood that there is a cancer predisposition, and we can make our
management recommendations from there.”
By utilizing genetic counseling and testing as a method to
determine if a patient is at a higher risk for being diagnosed with cancer,
affects not only the patients, but their families, too.
Coker said the impact understanding a patient’s genetics can
be life-changing for the patient and their loved ones.
“With genetics, it isn’t just the patient that will be
impacted by the test results,” Coker said. “It’s family members, it’s siblings,
it’s parents, it’s children, it’s cousins, so we really spend a lot of time
educating patients, so that the patient can be armed and have that
understanding, so they can be more confident and advocate for themselves and
For genetic counseling or cancer consultations, call the
Wendt Regional Cancer Center at (563) 589-2549 or to learn more about genetics
and cancer, visit us