A New Era of Genetic Testing

For many years, patients with breast cancer or a family history of breast cancer were commonly only offered genetic testing for BRCA1 and BRCA2 mutations. Within the last four years, technology has changed and we can now offer patients the ability to look for mutations in other genes that have been linked to breast cancer. The technology, called next generation sequencing, allows for many genes to be analyzed at the same time to determine if a person has a genetic risk to develop certain cancers.

Roughly 10 percent of cancer is caused by mutations in genes that people inherit from one of their parents. When a mutation is identified, we know there can be a higher risk to develop certain cancers. With that knowledge, we can then provide medical management to help reduce that risk.

With regard to breast cancer risk, BRCA1 and BRCA2 mutations are still the most common cause of hereditary breast and ovarian cancer. When a mutation in BRCA1 or BRCA2 is identified, there can be a significant risk to develop breast cancer (up to 85 percent) and ovarian cancer (up to 40 percent). However, in an individual or a family that has a significant amount of cancer and BRCA1 and BRCA2 mutations have been ruled out, next generation sequencing allows us a chance to look for other genetic causes to the cancers in the family. Specifically for breast cancer risk, there are nine other genes that have been linked to an increased risk to develop breast cancer. These genes are TP53, ATM, NBN, PALB2, CHEK2, BRIP1, CDH1, PTEN and STK11. With the ability to rule out other causes of hereditary breast cancer, we can better assess a person’s risk to develop cancer and help reduce that risk potentially by offering medical management including extra screening (including breast MRI), chemoprevention (tamoxifen or birth control pills) or risk-reducing surgery.

If you have had genetic testing previously for mutations in BRCA1 or BRCA2, speak with your genetic counselor or your physicians to determine if genetic testing for other genetic causes may be appropriate for you. If you have not had genetic testing before, most insurance covers the cost of the genetic testing if certain criteria are met. You may want to speak with a genetic counselor before genetic testing to discuss the benefits and limitations to the genetic testing and make sure the genetic testing is appropriate for you and your family. If there are young ages of onset of breast cancer, multiple family members with breast cancer, male breast cancer, and/or ovarian cancer in your family, you may want to speak with a genetic counselor to determine if genetic testing is something to consider.

Novant Health Cancer Care has a team of certified genetic counselors who are here to help you understand your cancer risk. To learn more or schedule an appointment, call 704-384-5373.