Genetics Help Patients Understand Risks of Developing Cancer
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Genetics Help Patients Understand Risks of Developing Cancer

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Genetics can play an important role in determining a patient's risk of developing various cancers, including breast, pancreatic, lymphomas and leukemias and much more.

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 their healthcare.”

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 online.