As human beings, we tend to fear the unknown or unfamiliar, and none of us want to hear the word cancer, especially when it involves ourselves or the diagnosis of a loved one. Every single one of us has two copies of each gene, one that we inherit from each parent. Perhaps you share blue eyes with your mother, brown hair with your father, or maybe you inherited their unique talent for playing a sport or an instrument. There are plenty of hereditary traits that we don’t mind inheriting from our parents. But when it comes to hereditary cancer, this is something we never want to acquire.
Also known as Cancer Family Syndrome, Lynch syndrome is a genetic condition that makes you more susceptible to developing certain cancers – not one, but several. It is among the most common hereditary cancer syndromes, and estimates suggest that one in every 300 individuals are at risk for carrying a gene mutation associated with the disease. If you are a carrier, this mutation significantly increases your danger of developing at least 13 different types of cancer during your lifetime. These include but are not limited to colorectal, stomach, breast, pancreatic, and bile duct cancers.
Cancer genomic (CGX) screening collects a saliva sample from your cheek to analyze your genetic profile – helping you understand how genetics plays a role in hereditary cancer. If you or a relative have hereditary cancer or are prone to disease, results can help you make more informed treatment decisions to improve your quality of life and detect the problem early when it’s most treatable. If someone in your family tests positive for Lynch syndrome, results can provide insight into how particular predispositions impact your family.
Genetics and Lynch Syndrome
If there is a strong history of colorectal cancer in your family, you as well as other relatives are more prone to having Lynch syndrome. Everyone has two copies of five genes – MLH1, MSH2, MSH6, PMS2, and EPCAM. Although they usually protect you from getting certain cancers, specific mutations prevent these genes from working correctly. One or more variations may raise your lifetime risk of developing a gastric, brain, upper urinary tract, or endometrial cancer. These are in addition to the types we previously mentioned above. However, not everyone with Lynch syndrome will get cancer.
We each inherit two copies of genes from each parent – this is called a germline mutation, and it’s present in all cells of the body. Even if you inherit a mutation in the Lynch syndrome gene, you still have the other copy from the other parent. Whether you will develop cancer, or not, depends on this germline mutation and where the second mutation occurs. For example, if it’s in the breast, the risk of breast cancer increases. If it’s in the colon, then colon cancer may arise. For a tumor to appear, it requires alterations in multiple growth control genes. That’s because the second mutation wouldn’t be present throughout the body, only in cancer tissue.
Lynch syndrome is an autosomal dominant family cancer syndrome. That means If one of your parents has the disease, you have a 50% chance of inheriting it yourself. Also, if you’re a sibling or parent of someone who has a mutation, you too have a 50% risk. But before you start thinking the worst about your fate, it’s necessary to review your family history. For every person who receives a Lynch syndrome diagnosis, on average, will have three relatives with the disease. Relatives of those with this type of syndrome can undergo predictive genetic testing to determine if they are a carrier of the mutation.
Tumor cells inside the colon of a patient with Lynch syndrome
Predictive CGX Screening for Lynch Syndrome
The reality is – if you had the opportunity to prevent all types of cancer from invading your body and those of your loved ones, there’s a good chance you’d take it. Fortunately, cancer genomic (CGX) screening is available for the MLH1, MSH2, MSH6, PMS2, and EPCAM genes that cause Lynch syndrome. If you choose to take this type of genetic test, it can identify specific mutations that may elevate your risk of developing hereditary cancer. Cancer genomic (CGX) screening also provides valuable information about your unique genetic profile, so you can work with your doctor to reduce your cancer risk and increase the probability of early detection.
If you receive a positive result for Lynch syndrome, you cannot assume that other members of your family have the disease, unless they take a genetic test themselves. You cannot control which genes you inherit from your parents and the genes you pass on to future children, but you can take the initiative to decrease your risk of developing cancer. You can also control the action you take to enhance your quality of life, have a more successful treatment outcome, and improve your longevity. If you or your doctor suspect that Lynch syndrome runs in your family based on previous cancer cases, he or she might recommend genetic counseling.
Lynch Syndrome and Genetic Counseling
Genetic counseling should always accompany genetic testing. Because Lynch syndrome poses a risk to the development of multiple cancers, cancer genomic (CGX) testing, is a remarkable preventative tool to examine the genes that cause them. The purpose of cancer genetic screening is to determine if you carry the faulty gene that links to Lynch syndrome or a specific cancer type. A genetic counselor will discuss how a positive or negative result can impact your life as well as relationships with fellow family members.
Even if you’re afraid of the answers you may receive, CGX testing and genetic counseling are reputably supportive resources. A genetic counselor will explain all of the treatment options you have while giving you a chance to ask any questions or address any concerns. Most parents find it challenging to be the bearer of bad news when it comes to their children. A genetic counselor can offer advice about how to approach them with complex information. By talking to a genetic counselor, you can sort out what’s accurate, what’s inaccurate, and clarify uncertainties.
Because Lynch syndrome is a dominant condition, you should assess your risk before starting a family so you can be as informed as possible, and conceive without hesitation. Learning if you are at risk of developing a specific type of cancer is a highly personal choice for you as well as your partner, and many factors influence your decision. There is never a right time or age to confront cancer, but acquiring knowledge about your unique genetic profile can help you make the arrangements necessary for proper prevention, management, and treatment.
Identify specific, inheritable gene mutations that may increase your risk of developing cancer