Overview
Lynch syndrome is a genetic condition that increases the risk of various types of cancer, including colon, endometrial, and other cancers. This syndrome is inherited from parents and causes cancers to develop at an earlier age than usual. People with Lynch syndrome may require thorough cancer screening to detect and treat cancer early. The syndrome was previously known as hereditary nonpolyposis colorectal cancer (HNPCC). It is inherited in an autosomal dominant pattern, meaning there's a 50% chance for each child to inherit the gene if one parent has it.
Understanding the disease
Symptoms
Symptoms of Lynch syndrome may include colon cancer before age 50, cancer of the inside lining of the uterus (endometrial cancer) before age 50, a personal history of more than one type of cancer, and a family history of cancer before age 50. People with Lynch syndrome may also have a family history of other cancers caused by the condition, such as stomach cancer, ovarian cancer, pancreatic cancer, kidney cancer, bladder cancer, ureteral cancer, brain cancer, small intestine cancer, gallbladder cancer, bile duct cancer, and skin cancer. If you have concerns about Lynch syndrome, it's important to consult a healthcare provider, particularly a genetic counselor, for guidance and genetic testing.
Risk Factors
Lynch syndrome is an inherited genetic condition that increases the risk of various types of cancer. The primary risk factor for developing Lynch syndrome is having a family history of the condition, as it is passed from parents to children through genes. The risk is higher if multiple family members have been affected by cancer at a young age, particularly with cancers such as colon, endometrial, or other types of cancer listed in the symptoms. If you have a family member with Lynch syndrome, it is essential to consult a healthcare provider and a genetic counselor to assess your risk and determine if genetic testing is appropriate for you.
Development
Lynch syndrome is caused by genes that are inherited from parents and pass on the risk of developing various types of cancer. The condition is inherited in an autosomal dominant pattern, meaning there's a 50% chance that each child will inherit the gene from a single parent. People with Lynch syndrome have mismatch repair genes that don't function properly, leading to unrepaired DNA errors. As a result, cells may grow out of control and develop into cancer cells. In family histories with Lynch syndrome, cancer may occur at an earlier age and at multiple sites, such as colon cancer, endometrial cancer, and other types of cancer.
Assessment and Diagnosis
Triage
If a family member has Lynch syndrome, you should see a doctor and ask for a referral to a genetics professional, such as a genetic counselor. They can help you understand Lynch syndrome, its causes, and whether genetic testing is right for you.
Diagnosis
To diagnose Lynch syndrome, the process may start with a review of your family history of cancer. Your healthcare provider will want to know if you or any family members have had colon cancer, endometrial cancer, or other cancers. Depending on your family history, your provider may recommend genetic testing for Lynch syndrome. Genetic testing involves analyzing changes in genes that cause Lynch syndrome. This can be done through a blood sample test. The test result may show a positive genetic test result, indicating a higher risk of certain cancers. If your healthcare provider suspects you may have Lynch syndrome, they may suggest you meet with a genetics professional, such as a genetic counselor, to help you decide if genetic testing is appropriate and to understand your results. To prepare for the appointment with the genetics professional, gather your medical records and ask family members for information about their cancer diagnoses. Consider bringing a family member or friend along for support and write down any questions you may have.
Management and Treatment
Complications
Potential complications of Lynch syndrome include:
- Early-onset cancer: Individuals with Lynch syndrome have a higher risk of developing cancer at a younger age, which can lead to more aggressive treatment and decreased life expectancy.
- Increased cancer risk: Lynch syndrome significantly increases the risk of various types of cancer, including colon cancer, endometrial cancer, and other cancers as listed in the symptoms section.
- Privacy concerns: Individuals with Lynch syndrome may worry about the disclosure of their condition affecting their job, insurance, or other aspects of their life.
- Impact on family: Lynch syndrome can have implications for the entire family, as other blood relatives may have a chance of inheriting the condition. Family members may need to consider genetic testing and take precautionary measures for early cancer detection.
- Reproductive concerns: Individuals with Lynch syndrome may face concerns about passing the condition to their children and potential impacts on their reproductive choices. It is essential to consult with a genetics professional to understand the risks and develop strategies for managing these potential complications.
Treatment
Treatment for Lynch syndrome primarily involves regular cancer screenings and preventive measures to minimize the risk of cancer development. Since there's no cure for Lynch syndrome, the focus is on early detection and intervention. Cancer screening tests help identify cancer signs in individuals without symptoms. Your healthcare provider will recommend specific tests based on your family history and the Lynch syndrome gene you carry. Preventive measures may include surgical procedures to remove organs before they develop cancer (e.g., hysterectomy for endometrial cancer prevention) or other options like intrauterine devices (IUDs) and oral contraceptive pills for reducing the risk of specific cancers. It's essential to maintain a healthy lifestyle, attend scheduled medical appointments, and seek support from friends, family, advocacy groups, or mental health professionals to cope with the increased risk of cancer associated with Lynch syndrome.
Preparing for medical consultation
To prepare for an appointment where you will be discussing Lynch syndrome, you can follow these steps:
- Gather your medical records: Bring any relevant medical records, especially if you have a history of cancer.
- Ask family members for information: Collect information about any family members who have had cancer, including the type of cancer, treatment, and age at diagnosis.
- Consider bringing a family member or friend: Having someone with you can help you remember important information and provide support during the appointment.
- Prepare a list of questions: Write down a list of questions you want to ask your health care provider about Lynch syndrome, genetic testing, and potential treatments. Additionally, it's crucial to address any concerns you may have about genetic testing, as well as understand the potential implications for your family. Be open with your health care provider about your thoughts and feelings, and ask any questions that may be on your mind. Good preparation can help ensure that you have a productive discussion during your appointment.