Cancer occurs when cells in the body begin to grow uncontrollably due to changes (harmful mutations) in their genetic information (DNA). The development of these mutations in our cells can be influenced by many factors such as environmental exposures, lifestyle choices, genetic factors, aging and even random chance. Although a majority of individuals are not born with a mutation that increases their risk for certain cancer types over the general population, approximately 5-10% of individuals with cancer are found to have a genetic predisposition to cancer. This is often referred to as “hereditary cancer.” Depending on the specific cancer type, the chance that we identify a hereditary predisposition to cancer can be higher or lower than 5-10%.

Who should consider genetic testing?

It is important to note that the terms male and female refer to sex assigned at birth, not gender identity. HonorHealth acknowledges that individuals of every gender can develop any type of cancer.

Individuals who meet National Comprehensive Cancer Network (NCCN) guidelines are recommended to undergo genetic testing for hereditary cancer syndromes. Individuals with a personal or family history of cancer are encouraged to meet with a genetic counselor who will provide a thorough cancer genetic risk assessment. In the appointment, genetic counselors will identify whether or not there is a recommendation for genetic testing.

Note: The following is not an exhaustive list and is specific to breast, ovarian, prostate and pancreatic cancers. Individuals can meet NCCN guidelines for other cancer types as well.

Individuals should consider genetic testing if they have:

• Female breast cancer diagnosed at age 50 or younger*
• Male breast cancer diagnosed at any age*
• Triple-negative breast cancer diagnosed at any age (a more aggressive form of breast cancer)*
• Multiple primary breast cancers*
• Ovarian cancer diagnosed at any age*
• Pancreatic cancer diagnosed at any age or a first-degree family member with pancreatic cancer
• Metastatic or high-risk prostate cancer at any age or a first-degree family member with metastatic or high-risk prostate cancer
• A family history of a hereditary cancer syndrome
• A combination of personal and/or family history of breast, ovarian, prostate and/or pancreatic cancer in first-, second- or third-degree relatives
• Ashkenazi Jewish ancestry

*Or a first- or second-degree relative with this diagnosis

Additionally, the American Society of Breast Surgeons currently recommends genetic testing for all individuals with a personal history of breast cancer, regardless of age at diagnosis or type of breast cancer.

Why would someone want to know this information?

Identifying the presence or absence of a hereditary mutation is crucial for patients. Cancer screening recommendations for the general public are not sufficient for individuals with a hereditary cancer syndrome. Knowledge of the specific mutation and the gene in which it is found can help guide an individual’s cancer screening and risk-reduction options in order to prevent cancer or detect it at an earlier stage. This information may also impact treatment for a current diagnosis of cancer. Additionally, depending on the gene, it may also provide information about the risk of non-cancerous findings as well.

Even if a patient does not have access to the medical information of their biological family, they can still consult with a genetic counselor to explore genetic testing options, such as proactive health screen.

How many hereditary cancer syndromes are associated with an increased risk for breast and ovarian cancer?

The first known hereditary cancer syndrome, hereditary breast and ovarian cancer syndrome (HBOC), was discovered in the 1990s. HBOC is caused by mutations in the BRCA1 (Breast Cancer 1) and BRCA2 (Breast Cancer 2) genes, which are tumor suppressor genes responsible for repairing DNA damage in cells. While mutations in these two genes are the most common cause of an increased risk for breast and ovarian cancer, an additional ~19 genes have been discovered in the past decade. It is important to note that gene panels that assess for an increased risk for other solid cancers usually contain ~70 genes.

Want to learn more about the risks, screening and risk-reduction options for hereditary breast and ovarian cancer syndrome? Read this document.

Scheduling a genetic counseling appointment

If you have a patient with a history of cancer or if cancer runs in their family, they can consider taking an important and potentially lifesaving steps – genetic counseling. For more information or to schedule an appointment, call 623-434-6238.

References:

National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 3.2024). https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed August 27, 2024