Worried about a Lynch syndrome diagnosis – or the thought of one? Understanding Lynch syndrome and how it can impact your life is a good first step toward effectively managing your risks while focusing on the future. Read on to learn more about Lynch syndrome and what it might mean for you.
Imagine receiving a diagnosis that changes everything you thought you knew about your health.
If you or a loved one has been diagnosed with Lynch syndrome, it’s natural to feel overwhelmed and anxious about what the future holds. This genetic condition significantly raises the risk of certain cancers, but understanding it better can be empowering. In this blog, we aim to provide clarity, support and actionable steps for those affected by Lynch syndrome, helping you navigate your health journey with confidence and hope.
What is Lynch syndrome?
Lynch Syndrome is an inherited condition caused by mutations in one of the mismatch repair (MMR) genes. These genes are responsible for correcting DNA replication errors, and when they malfunction, it leads to an increased risk of cancer. Individuals with Lynch syndrome have a higher lifetime risk of developing colorectal, endometrial, ovarian, stomach, small intestine, liver, gallbladder and upper urinary tract cancers.
How is Lynch syndrome diagnosed?
Getting a diagnosis typically involves analyzing personal and family medical history, and then going through cancer screenings and genetic testing. If you have a family history of Lynch syndrome-related cancers, it’s well worth it to discuss the details with your healthcare provider. Proactively addressing these concerns with your doctor is a crucial step in taking control of your health and well-being. We’ll discuss testing options in a little bit.
How Lynch syndrome can impact your life
#1 – Getting tested
Testing can identify mutations in the MMR genes, confirming the presence of Lynch syndrome. Speaking to your healthcare provider will help you and your family make informed testing decisions. Thanks to advanced technology and years of research, there are different ways to test for Lynch syndrome:
DNA Sequencing: This method determines the order of nucleotides in a DNA molecule to identify gene alterations associated with Lynch syndrome. DNA sequencing is typically used to confirm Lynch syndrome after IHC or MSI screening, which are discussed below. It is typically done from a blood draw and can thus also be used for family members without cancer. However, the enormous amount of possible gene alterations in the Lynch syndrome genes can make the interpretation challenging and often results remain inconclusive.
MMR Deficiency Test: This innovative method directly assesses the function of DNA mismatch repair proteins to detect deficiencies, which are the hallmark of Lynch syndrome. Conducted on healthy tissue from any person suspected of having Lynch syndrome, this test provides high fidelity results with exceptional accuracy. It simplifies the diagnostic pathway by offering a straightforward and reliable result. By reducing the need for multiple tests, this advanced testing option reduces uncertainty and helps families make more informed decisions about their health and future.
Current testing protocols, while effective, often present challenges such as varying accuracy, inconclusive results, limited applicability and the need for multiple tests to confirm a diagnosis. This can lead to uncertainty and anxiety for families seeking definitive answers. This is why the MMR deficiency test is such a great option.
#2 – Frequent screenings
While testing focuses on genetic predispositions, cancer screenings focus on bodily detection. Individuals that are at risk for Lynch syndrome require more frequent and earlier screenings for cancers, particularly colorectal cancer. Screenings will be based on your specific risk factors and examine physical signs or changes in your body indicative of cancer.
Regular colonoscopies starting in the mid-20s can significantly reduce the risk of advanced cancer by detecting it early. In addition to colonoscopies, individuals may need regular screenings for other cancers associated with Lynch syndrome, such as endometrial, ovarian and gastric cancers. These screenings can include endometrial biopsies, pelvic ultrasounds and upper endoscopies, ensuring that any potential cancer is caught at an early, more treatable stage. Two main types of screenings are:
Immunohistochemistry (IHC): This technique visualizes the presence, localization, and abundance of specific proteins or antigens in cancer tissue. It is the most widely used screening test for Lynch syndrome, since abnormal expression of MMR proteins calls for further testing.
Microsatellite Instability (MSI): This screening option examines tumor DNA for alterations in repetitive DNA sequences. It is highly relevant for patient care and cancer treatment but not applicable to those without tumors.
#3 – Communicating openly with family
Lynch syndrome is a hereditary condition and inherited with 50% probability, which means your family members may also be at risk. Sharing a positive diagnosis with relatives can help them understand their own potential risks and encourage them to seek genetic counseling and testing. By maintaining open lines of communication, you can help your family members make informed decisions about their health and take proactive steps to manage their risks.
Here are some tips for how to talk to family about Lynch syndrome:
Educate yourself first: Ensure you understand Lynch syndrome and its implications before discussing it with your family. This will help you answer questions and provide accurate information.
Choose the right time and place: Select a private and calm setting where everyone can comfortably discuss sensitive information.
Be honest and direct: Approach the conversation with honesty and clarity. Explain why you’re sharing this information and its relevance to family health.
Provide resources: Offer information about Lynch syndrome, genetic counseling and testing options. Direct them to reliable resources that have helped you or suggest speaking with a healthcare professional.
#4 – Empowering yourself with knowledge
Lynch syndrome often necessitates becoming well-educated about the condition and advocating for yourself within the healthcare system. This involves staying informed about the latest medical advancements and treatment options, as well as understanding your available resources. By educating yourself, you can help raise awareness about Lynch syndrome and support your family members who may also be impacted. We’ve included some helpful and informative resources below:
Conclusion
Learning you have Lynch syndrome can be a daunting experience. It’s natural to feel overwhelmed and anxious about what the future holds. Remember, you are not alone in this journey. Proactive management and regular screenings can make a significant difference in mitigating the risks associated with this genetic condition. By staying informed and taking charge of your health, you can face the future with confidence.
At Lynsight, we are here to support you every step of the way. Our accurate and comprehensive Lynch syndrome testing helps you understand your genetic risks and empowers you to make informed decisions about your health. Together, we can navigate the challenges of Lynch syndrome and work towards a healthier, cancer-free future.
