Empowering patients with genetic testing

More and more women like actress Angelina Jolie are stepping forward to undergo genetic testing for breast cancer – and for good reason.

As many as 5 percent to 10 percent of all cancers may be linked to an inherited risk, and approximately 30 percent of cancer cases occur in families with close relatives who have experienced similar cancers. Women with BRCA1 or BRCA2 gene mutations may have up to an 80 percent risk of being diagnosed with breast cancer during their lifetimes. Many other gene mutations have also been linked to hereditary cancer.

Hereditary cancer is the development of cancer due to an inherited gene mutation that has been passed from parent to child upon conception. Experts in the field of cancer genetics can help identify an individual’s risk of developing cancer and understand the options available to help manage related health issues, explained David Euhus, M.D., Professor of Surgery at UT Southwestern Medical Center and surgical oncologist at UT Southwestern’s NCI-designatedHarold C. Simmons Comprehensive Cancer Center.

“When we understand the causes of this disease and its triggers, we can empower patients to fight cancer,” said Dr. Euhus, co-director of the Mary L. Brown Breast Cancer Genetics and Risk Assessment Clinic in the Center for Breast Care at UT Southwestern.

Dr. Euhus helped develop the groundbreaking CancerGene software program that is used in more than 4,000 cancer centers throughout the world to help doctors work with patients to identify their inherited risk for breast cancer.

“Knowing that you carry a mutation in one of the BRCA genes opens up numerous options for early diagnosis and cancer prevention,” he said. “If you have been diagnosed with breast cancer recently, this information is critical for making treatment decisions.”

Clinical trials for patients with a BRCA gene mutation are available at UT Southwestern.

UT Southwestern’s genetic counselors have also partnered with FORCE, or Facing our Risk of Cancer Empowered, a support group for patients with hereditary breast cancer. This sentiment of cancer prevention is echoed through families facing hereditary breast and ovarian cancer.

One woman who recently discovered that she has a BRCA1 mutation spoke about her plans to undergo prophylactic bilateral mastectomy and removal of her ovaries. “At the end of the day, I want to do everything I can to make sure that I am here to watch my children grow up,” she said.

Dr. Euhus offered the following checklist to help individuals decide whether they should consider genetic testing for breast cancer:

• Breast cancer diagnosis before age 45
• Three or more blood relatives on the same side of the family diagnosed with breast cancer
• A family history of ovarian cancer
• A relative on either side of the family diagnosed with breast cancer before age 45
• Being of Ashkenazi Jewish heritage
• A family member who had triple negative breast cancer before age 60
• Any male in the family who has had breast cancer
• Female relatives who have had cancer in both breasts

An inherited risk for cancer also may be higher when:

• The same type of cancer occurs in multiple close relatives.
• You or a family member have a rare cancer/tumor such as a sarcoma, male breast cancer, medullary thyroid cancer, or a pheochromocytoma.
• You have a family history with a combination of breast and ovarian cancers, or colon and uterine cancers.
• You have more than 20 colon polyps.
• You or a family member have had multiple different kinds of cancer.