Cancer genetics and risk evaluation

Familial, or inherited, cancer occurs when a change in a gene is passed from generation to generation within a family. Certain genetic changes, or mutations, can increase a person’s risk of developing specific types of cancer. However, it’s important to note that not all cancers are hereditary, and many are caused by a combination of genetic, environmental, and lifestyle factors.

If you have a personal history of cancer and/or a family member has been diagnosed with cancer at an early age, or if you have multiple family members with cancer, you may be eligible for genetic testing. Genetic testing can help you and your doctor better understand your risk of developing a similar cancer and plan for screenings accordingly.

Through Penn Medicine’s world-class Cancer Care System, the Cancer Risk Evaluation Programs are dedicated to caring for individuals and families who have or are at risk for hereditary cancers. This includes patients with a personal or family history of breast cancer, gynecologic cancers (uterine, ovarian), gastrointestinal cancers (colorectal, pancreatic, gastric) prostate cancer, sarcomas, endocrine cancers, or others.

We offer state-of-the-art cancer risk evaluation, genetic counseling, genetic testing, and medical care from expert clinical teams. Our specialists provide our patients with the most current options for evaluating and managing cancer risk.

Genetic cancer testing is offered to people with a personal or strong family history of certain cancers. Cancer genetic testing helps determine whether they were born with a gene mutation that places them at a higher risk of developing cancer.

Genetic testing for cancer offers several benefits:

• Early detection and prevention: Knowing if you’re at an increased risk of developing cancer allows you to start screenings at a younger age. This may lead to earlier detection of cancer or precancerous conditions when treatment may be more effective, potentially improving outcomes.
• Personalized risk management: By understanding your risk factors for cancer, you can make informed decisions about lifestyle changes, preventive measures, and medical interventions that may lessen your chances of developing cancer.
• Peace of mind: For people with concerns about their family history or other risk factors for cancer, undergoing a risk assessment can provide reassurance by being proactive in your own health care.

Overall, cancer risk assessment can play an important role in improving health outcomes.

The Penn Medicine Gastrointestinal Cancer Risk Evaluation Program offers information and evaluation for patients who may be at an increased risk for developing gastrointestinal polyps and/or gastrointestinal cancers due to a hereditary syndrome. This includes patients with a personal or family history of pancreatic, colon, or gastric (stomach) cancers, as well as colorectal and/or gastric polyposis.

Consider genetic evaluation for a hereditary gastrointestinal cancer and/or polyposis syndrome if you or a family member has had:

• A known mutation in a cancer risk gene
• Colorectal cancer (especially if diagnosed under age 50)
• Endometrial (uterine) cancer (especially if diagnosed under age 50)
• A personal history of more than one cancer (especially if this includes colorectal, gastric, uterine and/or ovarian cancer)
• Pancreatic cancer (at any age)
• Gastric (stomach) cancer (especially if diffuse-type, a rare form of gastric cancer)
• A cancer that is considered “mismatch repair deficient,” (a feature seen more frequently in cancers due to Lynch syndrome)
• More than ten adenomatous (pre-cancerous) gastrointestinal polyps in a lifetime
• Two or more hamartomatous polyps, which are various rare types of gastrointestinal polyps
• More than five serrated colon polyps in a lifetime

This program offers:

• State-of-the art cancer risk evaluation, genetic counseling and testing, and medical care for people and families with inherited gastrointestinal syndromes that may put them at higher risk for gastrointestinal cancers and/or polyps.
• Guidance regarding screenings and other preventative measures against gastrointestinal cancers.
• Dedicated medical management programs to address hereditary cancer risk through a personalized and comprehensive plan, including:
  • King Center for Lynch Syndrome
  • Pancreatic Cancer Risk Management Program
  • Hereditary Diffuse Gastric Cancer Syndrome Program
  • Polyposis Program

Navigating positive genetic test results and family implications

Deciding whether or not to have genetic testing is a personal decision. Learning about the presence of an inherited mutation that increases your risk for cancer can affect your whole family. Relatives could learn more about their cancer risk through testing a parent, brother, sister, or cousin. This information may or may not be welcome.

We strongly encourage you to share genetic testing information with your relatives. However, each family member will need to choose whether or not to be tested on their own. If you are found to have a gene mutation, your family members will be encouraged to consider genetic testing. This will help determine if they, too, inherited the same gene mutation.

Such knowledge allows family members to take advantage of early detection screening and possible medical options for risk reduction.

It’s important to remember that genetic testing is not without limitations. Test results may cause anxiety or other emotional distress, and the full cost of testing is not always covered by insurance. Some mutations may not be detectable using current technology, so additional testing could be necessary in the future.