Genetic Risk & Support: What You Need to Know About Lynch Syndrome

Understanding Lynch Syndrome

Some cancers tend to run in families. In some cases, this occurs due to harmful changes (referred to as mutations) in our genes, which are inherited from one generation to another.

Lynch syndrome is an inherited condition. It is believed to result from specific genes that fail to function properly. Lynch Syndrome makes you more likely to develop a number of cancers, such as endometrial (cancer of the uterus), colorectal, stomach or ovarian cancer. That is why if you or members of your family have already been diagnosed with one of these cancers, particularly at a young age, your doctor might recommend you having genetic counselling and testing for Lynch Syndrome.

Discovering that you have Lynch Syndrome is disappointing. You are entitled to feel overwhelmed. There is a tremendous amount of complicated information to process; what does it mean for you, what does it mean for your family members? But having this information can assist you in making more informed medical choices – even if you are already undergoing cancer treatment or you are a survivor.

What Is Lynch Syndrome?

Lynch syndrome, also referred to as Lynch disease, is a prevalent inherited cancer syndrome. It affects DNA repair genes, greatly increasing the lifetime risk for developing particular cancers, mostly at a younger age. It is commonly overlooked, particularly when various types of cancers occur throughout generations.

A 40% to 80% lifetime risk for cancer development can be linked to Lynch syndrome, especially:

Bowel (colorectal) cancer: 50% to 80%
Endometrial (womb) cancer in women: 30% to 60%
Ovarian cancer: ~10%
Other cancers that occur in Lynch syndrome include biliary tract, pancreas, brain, small bowel, stomach and urinary tract.

There is a 50% chance of passing on the defective gene to each child of the affected person.

Why Is It Missed So Often

It is normal for individuals to link inherited cancer with breast cancer or cancer of a single organ. However, Lynch syndrome cancers are quite diverse, even among family members. A relative might develop cancer of the womb, another of the bowel, another brain or pancreatic cancer, without realising their connection. That is why a high degree of suspicion is essential.

Discovering Whether You Have Lynch Syndrome

There are some ways that may help you learn if you or someone in your family has Lynch Syndrome. You or a relative with a personal or family history of Lynch syndrome-related cancers may choose to have genetic counselling, or your physician may refer you. A blood sample can be tested with a genetic screening to determine if you carry a mutation. If you already have cancer of the colon or rectum, screening tests may be performed on the tumour itself as a part of your initial diagnosis or treatment. If either test is abnormal, it generally is a red flag to call for further testing and genetic counselling.

Should You Get Tested?

Genetic testing is suggested if:

You have an early-onset family history of cancer (below age 50)
Several relatives across generations have developed ovarian, womb, bowel or Lynch-related cancers
A family history of different cancers in close family members

How Genetic Testing Works

We provide Lynch syndrome genetic testing at our South Kensington MD clinic. It is an easy blood test, and results are usually available in 4 weeks.

Get as much information as you can about your family history of cancer before your appointment – it guides suitable action.

If you get a positive result, we will refer you for genetic counselling and assistance with cascade testing for your family.

Moving Forward: Screening and Prevention of Lynch Syndrome

You discovered that you or a loved one has Lynch Syndrome. So now what? Thankfully, there are several options that can assist in controlling your risk for certain cancers. If you have a Lynch-associated mutation, active screening and planning for treatment are available to help you.

For All Carriers:

Colonoscopy in every 2 years beginning from the age of 25: Regular screening will greatly lower the mortality rate for bowel cancer
Medications like regular aspirin (150mg) intake is found to reduce risk of bowel and other cancers: Individuals over 70kg might be treated with a higher dose

For Women:

Screening from about age 35: Ultrasound, hysteroscopy, and CA125 blood tests (marker for ovarian tumour)
Preventative surgery: Hysterectomy and oophorectomy are options you can consider after completing your family

For Men:

PSA blood test every year can help monitor for prostate cancer

Family Planning and Support:

Referral to a clinical genetics service to explore reproductive choices and consider cascade testing for other family members

The Bottom Line

Having Lynch Syndrome can cause worry and constant concern. These can be ongoing uncertainty, fears, concerns regarding what will happen to your body, distress about whether and how to inform your family, feelings of guilt that you could have passed an unhealthy gene onto your children, and concerns about the treatment costs as well.

Having a possibly greater risk of cancer than another person can bring challenges that you have never experienced before. You can empower yourself with the condition and how to adapt to it, and have at least one individual you can speak with who will not judge you as you make choices. Motivate yourself with positive self-talks and maintain healthy routines to reduce stress levels. If you are struggling, you might go for counselling as well.

Need genetic testing or advice? Book your Private GP Consultation in London today with one of our specialist GPs at South Kensington MD.