About Lynch Syndrome
Compiled by St Mark's Hospital Foundation
What is Lynch Syndrome?
Lynch syndrome is an inherited condition that runs in families. It makes those living with the condition more likely to develop particular types of cancer, especially colorectal (bowel cancer) and endometrial (womb) cancer, and to a lesser degree ovarian cancer. It was formally known as Hereditary nonpolyposis colorectal cancer(HNPCC).
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Lynch syndrome affects one of the body’s DNA repair systems so it doesn't work as it should, raising the chance of certain cancers developing. Many people with Lynch syndrome never develop cancer and live full, healthy lives, while developments in prevention, screening, and treatment are further improving outcomes.
This page introduces what Lynch syndrome is, how it’s passed on, and how it’s diagnosed, then sets out what care looks like: regular bowel surveillance, when aspirin may be considered, and other ways to reduce risk. We also explore talking to relatives, support for everyday life, and where to find help. You can use this information to prepare for conversations with your loved ones and your clinical team.
To explain Lynch syndrome more fully, we need to explain how normal cells work and divide, and how cancer occurs. For our body to grow and repair itself, cells must create new cells. If you cut yourself, your skin cells continue to divide until the wound is healed. Normal healthy cells know when to stop dividing.
Cancer happens when cells continue dividing when they are supposed to stop. As the cancer cells grow, they begin to crowd out normal cells and eventually form a lump. A lump of cancer cells is called a tumour. There are some mechanisms in our body that protect us against cancer. These mechanisms guard cells and make sure that the cells know when to stop dividing. When these mechanisms identify cells that are unable to stop multiplying, these mechanisms repair or remove these cells, and by doing so they prevent cancer from occurring. One of these mechanisms is created by the DNA mismatch repair genes called MLH1, MSH2, MSH6 and PMS2. Everybody has these genes.
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In Lynch syndrome, one of these genes is not working properly. This means that their cancer protection mechanism is not working at 100%, and so people with Lynch syndrome have less protection against cancer. These mismatch repair genes work like police officers in our body, checking that cells are made properly and don’t divide and multiply out of control. If these genes aren’t working properly, it might result in fewer police officers, which results in less protection against cancer. This means that people living with Lynch syndrome have less protection, rather than having a genetic alteration that causes cancer itself. For this reason, not all individuals living with Lynch syndrome will develop cancer, but having less protection makes it more likely.
Most people living with Lynch syndrome live a normal life. Lynch syndrome is caused by a genetic change in one of these DNA mismatch repair genes called MLH1, MSH2, MSH6 and PMS2. There is a fifth gene involved called the EPCAM gene because it turns off the neighbouring MSH2 gene. EPCAM alterations are very rare and only account for 6% of Lynch syndrome cases. The main concern in Lynch syndrome is colorectal (bowel) cancer. For women, endometrial (womb) cancer is also a concern, and to a lesser degree ovarian cancer. There is small increase in the likelihood of developing a few other cancer types that you may need to keep an eye on, but this will be explained later. The risk or likelihood of developing different cancer types depends on which gene is implicated, and other factors such as gender and age.
Having a diagnosis of Lynch syndrome can be a double-edged sword. On one hand, it could be worrying to know that you have a higher likelihood of developing cancer. On the other hand, you are armed with knowledge and an enhanced screening programme that will help you prevent these cancer types and live a normal and fulfilling life. It will empower you to manage your care. Monitoring and screening will help to prevent cancer or help to diagnose and treat it early. It is important to know that you are not alone. As many as 1 in 278 people live with Lynch syndrome. There are over 7 billion people on earth. Over 25 million of them have Lynch syndrome, just like you. If you would like to meet other people living with Lynch syndrome, Lynch Syndrome UK will be able to support you. We are a charity association run by people living with Lynch syndrome. We have useful resources, organise events, and have online as well as face-to-face support groups where you can meet people just like you.
How did I get Lynch syndrome?
To understand how Lynch syndrome happens, we need to understand DNA and genes. DNA is the code our bodies use to make genes. Genes are the instructions that tell our body how to grow and develop, and each gene has their own job to perform. Some of our genes determine what hair and eye colour we have, and some are responsible for protecting us against diseases like cancer.
Inherited conditions are due to a genetic change (also known as a variant or genetic alteration) in a particular gene, which can be passed on in a family. A genetic change may alter the level of protection a family has against certain diseases such as cancer.
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When we are conceived, we inherit two copies of every gene, one copy from our mother and one copy from our father. If one of our parents has Lynch syndrome, at the point of conception, they have a 50% chance of passing on their altered copy and 50% chance of passing on their unaltered copy. If a person inherits the altered copy, they will have Lynch syndrome. This is also known as an autosomal dominant inheritance pattern. This also means a person with Lynch syndrome has a 50% chance of passing on their altered gene each time they have a child.
Figure created by North East Thames Regional Cancer Genetics Service
Mismatch repair genes are inherited from your parents. If you inherit an altered copy of the gene which causes Lynch syndrome, you have Lynch syndrome. Luckily, the copy from the other parent may work just fine. However, there is a chance that one day your working mismatch repair gene will make a mistake in one of the organs affected by Lynch syndrome. When both of your mismatch repair genes are no longer working, you have less protection against cancer, and so cancer will be more likely to occur. In 99% of cases, you would have inherited Lynch syndrome from one of your parents. In this case, it is possible that your siblings will have it too.
If you do not have Lynch syndrome, you cannot pass it on to your children because you cannot pass on something that you don’t have. It is possible to have Lynch syndrome without inheriting it from your parents, but this is extremely rare. In this case, the genetic alteration happens by nature after conception, and you are the only one that has it. This is called a ‘de novo’ genetic alteration. This would be the first time that Lynch syndrome is found in the family. For this reason, your siblings and parents are unlikely to have Lynch syndrome, but your children will have a 50% chance of inheriting the alteration.
Cancer, Inherited Cancer & Lynch Syndrome
Do I have an inherited condition?
In the majority of cases, cancer is not inherited. In the case of colorectal cancer, it is common in the general population, affecting 1 in 14 men and 1 in 19 women at some point during their life, more commonly after the age of 60. Most cancers occur sporadically or ‘out of the blue’.
However, in about 5-10% (5-10 in 100) of the individuals who develop colorectal or endometrial cancer, cancer is caused by a genetic alteration (a change in their genetic code instructions, or what we are going to call a ‘genetic change’). In about 3% (3 in 100) of all colorectal or endometrial cancers, the genes affected are those whose task is to repair abnormalities when cells are made. These repair genes (called DNA mismatch repair genes) protect us from developing certain cancer types. This is the case in Lynch syndrome, which is the most common cause of inherited colon and endometrial cancer. It affects 1 in 278 people.
It is not straightforward to find out if a cancer is inherited or sporadic (out of the blue). To find out if someone has an inherited cancer that is being passed down in the family, there are different tests that need to be performed. In addition to taking a detailed family history, for Lynch syndrome, some tests are performed on the cancer (tumour) sample. This is because Lynch syndrome leaves a fingerprint in the tumour. The initial tumour tests are immunochemistry (IHC) and microsatellite instability (MSI):
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Immunochemistry (IHC): Every person diagnosed with colorectal or endometrial cancer has IHC performed on their tumour. IHC looks at the expression of the proteins produced by these ‘mismatch repair’ genes. If there is a loss of expression of any of these proteins, you may be offered genetic testing to find out if you have Lynch syndrome. There are some short and easy to understand leaflets which you can access here:
- Recording your bowel cancer IHC results card.
- Recording your womb cancer IHC results card.
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Microsatellite Instability (MSI): This is another type of genetic test on the tumour to find out if you are likely to have Lynch syndrome. If the result is positive, you might have Lynch syndrome, and you will be offered genetic testing.
- Recording your bowel cancer MSI results card.
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Additional testing may be required using MLH1 promoter Hypermethylation (MLH1 Methylation). In some cases, following an IHC test, this test might be necessary to clarify if the cancer is sporadic and originates in the tumour cells, or if it could possibly be inherited. If the result of this test shows that the tumour sample is methylated, it clarifies that the cancer is sporadic and originates in the tumour. If not, it is possible that you might have Lynch syndrome and will be offered genetic testing.
If tumour test results show that there is a possibility that you might have Lynch syndrome, you will be offered genetic testing. Genetic testing will be able to confirm if you have Lynch syndrome.
How is Lynch syndrome diagnosed if you have an affected close relative?
In the majority of cases, cancer is not inherited. In the case of colorectal cancer, it is common in the general population, affecting 1 in 14 men and 1 in 19 women at some point during their life, more commonly after the age of 60. Most cancers occur sporadically or ‘out of the blue’.
However, in about 5-10% (5-10 in 100) of the individuals who develop colorectal or endometrial cancer, cancer is caused by a genetic alteration (a change in their genetic code instructions, or what we are going to call a ‘genetic change’). In about 3% (3 in 100) of all colorectal or endometrial cancers, the genes affected are those whose task is to repair abnormalities when cells are made. These repair genes (called DNA mismatch repair genes) protect us from developing certain cancer types. This is the case in Lynch syndrome, which is the most common cause of inherited colon and endometrial cancer. It affects 1 in 278 people.
Genetic testing for Lynch syndrome following a cancer diagnosis
Genetic testing for Lynch syndrome will involve having a blood test. DNA will be extracted from your blood to look for genetic changes (or variants) that cause disease or increase your risk of developing a disease. This testing takes approximately three months to complete.
Genetic testing for Lynch syndrome helps your doctors to understand you and your family’s risk of developing cancer in the future. Positive test results will also help your doctors to understand the treatments you may require. They will use it to develop an enhanced cancer prevention programme just for you. If you have cancer, you will be eligible for therapies that are known to work best for people with Lynch syndrome, such as immunotherapy.
Having genetic testing is optional. Your decision will not affect the standard of care you receive. However, knowing you have Lynch syndrome will give you and your family access to personalised cancer prevention programmes, advice and treatments. It will also enable testing of other family members and, if appropriate, they will also be provided with a personalised cancer prevention programme to help reduce the chance of further cancers developing in the family.
Genetic results
Genetic test results do not always give a clear answer. This is because the science of genetics is still in its infancy. For this reason, and for clarity, your results will be classified as positive, uncertain or negative:
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Positive - a genetic change for Lynch syndrome is identified: This result would confirm the diagnosis of Lynch syndrome and provide an explanation for why you developed cancer. Your cancer team will use this information in their management decisions and will discuss this with you further. You might be considered for additional therapies, and they will offer predictive genetic testing to your first-degree relatives (parents, siblings and children), as they might carry the same genetic change.
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Uncertain - Genetic change (or variant) of unknown clinical significance is found: A genetic change is found, however it is not certain that it is the cause of your cancer. If appropriate, there may be further analysis of your tumour or other family studies recommended. Unfortunately, genetic testing cannot be offered to your family members at this time but cancer surveillance for you and your family will still be recommended.
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Negative - No genetic changes were found: This result doesn’t rule out an inherited condition. It might be that the limited knowledge we have about genetics means we are unable find a genetic change currently. If appropriate, there may be further analysis of your tumour recommended, to try to clarify if you have Lynch syndrome. Unfortunately, genetic testing cannot be offered to your family members but cancer surveillance for you and your family will still be recommended. Screening recommendations for you and your family will follow the Lynch-like syndrome recommendations, which your clinician will tell you about.
Genetic testing for Lynch syndrome following the diagnosis of a family member
If you have a first degree relative (parent, sibling, or child) with Lynch syndrome, you will be offered “predictive genetic testing” to find out if you have the genetic change or alteration that have been found in the family. DNA will be extracted from your blood to look for the familial genetic change.
Having genetic testing is optional. Your decision will not affect the standard of care you receive. However, knowing you have Lynch syndrome will give you access to a personalised cancer prevention programme and advice. It will also enable genetic testing of your children when they reach the age of 18, or access additional family planning options if you don’t have children yet.
Genetic results
It is important to clarify that this genetic blood test will only look at whether you carry the familial genetic change. It will not look at any other part of your DNA. For this reason, there are only 2 possible outcomes from this predictive genetic blood test:
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You are found to carry the familial genetic change: This will confirm your diagnosis of Lynch Syndrome. You will be offered a personalised screening programme which will include a two-yearly colonoscopy from the age of 25 or 35 depending on the familial genetic alteration, to reduce the risk of bowel cancer. In this case, your children or future children will have a 50% chance of inheriting this genetic change. They will be offered this genetic blood test when they are 18 years old. If you haven’t had children yet, you will be offered additional family planning options.
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You don't carry the familial genetic change: In this case, you have not inherited Lynch syndrome and your risk of developing bowel cancer or any other cancer will be the same as the general population. You will not need any special or enhanced cancer screening. Your children will not inherit this genetic change as you cannot pass on something you don’t have.
Psychological Concerns
Genetic testing can bring up a wide range of emotions in people for several different reasons. This is particularly the case in predictive testing where a result can predict that in the future you might become unwell. As discussed, not everyone with Lynch syndrome will develop cancer, and leaving with uncertainty can be challenging.
However, everyone is different, and many people find that knowing that they carry a particular genetic change can give them certainty, give them the power to make decisions, and encourage them to take control in their personalised cancer prevention programme.
Insurance Implications of Genetic Testing
Currently there is an agreement between the insurance companies and the department of health that means that if they are a member of the British Association of Insurers, they should not ask for the results of predictive genetic tests.
If you are having difficulties in arranging insurance, this might be due to your family history of cancer, rather than your genetic results. It can be helpful to talk to a company that is more experienced in dealing with Lynch syndrome. A member of Lynch syndrome UK might be able to direct you to cancer friendly companies and may be able to help with this if necessary. If your genetic result is negative, you might want to disclose this to your insurance company.
If you have any questions about how your genetic test could affect your insurance, more information is available from:
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Insurance implications for individuals that going to have a predictive genetic blood test are different than people that are diagnosed with Lynch syndrome following a cancer diagnosis (called diagnostic genetic testing). More information is available from Genetic Alliance UK.
What does my genetic test result mean?
After approximately three months (or 1.5 months if you are having a predictive genetic blood test) you will be given your genetic test results. You have been waiting for this for what it might feel like a long time. Now that you have spoken to your team and have your results, you might have some questions.
Please read the information below as many times as you need so you can understand your results and its implications for you and your family and, most importantly, what can you do to reduce or prevent cancer and balance out the risk.
The main concern in Lynch syndrome is colorectal (bowel) cancer. For women, endometrial (womb) cancer is also a concern, and to a lesser degree ovarian cancer. There is small increase in the likelihood of developing a few other cancers: pancreatic, kidney, urinary tract, skin, brain and gastrointestinal cancers. However, these other cancers are seen only occasionally, and the increased risk is small – generally less than a 5% increase if you compare this risk to rest of the general population.
The risk or likelihood of developing cancer depends on three factors: age, gender and which gene is implicated:
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Age: The likelihood of developing cancer is very low at an early age, including for people with Lynch syndrome. Cancer prevention bowel check-ups for people living with Lynch syndrome start at the age of 25-35. The likelihood of developing cancer increases with age, so people with Lynch syndrome will have bowel checks every two years.
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Gender: Men tend to have a higher risk of developing colorectal cancer as compared to women. However, women have the additional risk of endometrial and ovarian cancer.
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Gene: Different genes have a different likelihood of contributing to the development of cancer. There are some websites that can give you percentages of risk. It can be difficult to look at graphs and make sense of the information, especially when the information is personal to you. If you do wish to calculate your risk, it is recommended to do this with a healthcare professional, who can interpret and personalise the information for you and answer your questions appropriately. However, if this is something that you would like to look at on your own, you can visit the Prospective Lynch Syndrome Database.
Prospective Lynch Syndrome Database help
If you would like to have a look at your risk on your own, here are some helpful tips that will help you to look at the graphs. There are 3 boxes and a current age bar that you need to select to add your personal information. There are additional taps at the top of the page for calculations for people with and without a previous cancer diagnosis. In addition, please note the acknowledgement in the database on PMS2. They state that “the number of PMS2 carriers included in the studies are insufficient for reliable conclusions. Risk estimates for PMS2 carriers should therefore be interpreted with caution”.
Information that you need to personalise to look at your risk:
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Genetic variant tap: Make sure that you choose your or your family’s Lynch syndrome genetic alteration.
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Organ tap: You can look at all organs together by selecting ‘any organ’, of choose a specific organ to find out the likelihood to develop that cancer type.
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Gender tap: Chose the gender that you were assigned at birth.
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Current age bar: Slide the bar to your current age
Screening and risk-reducing strategies
Below are some of the general screening recommendations and cancer prevention strategies for Lynch syndrome. Your healthcare professional will explain and go through your personalised cancer prevention programme with you in more detail.
Your personalised cancer prevention programme will include your gene specific recommendations which are not included here. If you have any questions, get in touch with your healthcare team.
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Consider taking aspirin (NICE guidelines 2020) from the age of 25 to 65 for cancer prevention: Aspirin has been shown to reduce the long-term risk of cancer in Lynch syndrome by around 50%. Trials to determine the best dose of aspirin for cancer prevention are still ongoing, so discuss with your GP whether you have any contraindications to taking aspirin before you start. If you are younger than 25 and you wish to start taking aspirin, discuss this with your medical team. [Lynch syndrome: should I take aspirin to reduce my risk of getting bowel cancer. Patient decision aid, NICE, 2020] To find out the latest information and recommendations in aspirin, you can visit the CAPP3 trial website
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One-off screening for Helicobacter pylori: H. pylori is a bacteria that 30% of the population have in the stomach. Eradication of these bacteria may reduce the lifetime risk of gastric cancer by up to half. To arrange testing for this contact your GP.
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General lifestyle recommendations:
- Healthy diet: High fibre, low fat, with plenty of fruit and vegetables. Try to eat less red and processed meat. It is also good for your general health that you include starchy foods in your diet such as plantains and green bananas. - Behaviours: Limiting your alcohol intake, not smoking, and doing regular exercise is beneficial for your general health and all have a role in preventing the development of cancer.
- Body weight: Maintaining a healthy body weight is also important.
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Resistant starch: An international trial called CAPP2 found that a regular dose of 30g resistant starch, also known as fermentable fibre, taken for an average of two years may reduce a range of cancers by up to 60%. The effect is most obvious in the upper part of the gut.
- “Resistant starch can be taken as a powder supplement and is found naturally in peas, beans, oats and other starchy foods. The dose used in the trial is equivalent to eating a daily banana; before they become too ripe and soft, the starch in bananas resists breakdown and reaches the bowel where it can change the type of bacteria that live there.”
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Two-yearly check-up of your bowel: For colorectal cancer prevention.
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Gynaecological surveillance: Currently there is limited evidence to support gynaecological surveillance for the early detection of gynaecological cancer in Lynch syndrome. There are some surgical risk-reducing interventions available for women between the ages of 40 and 45 who have completed their family. Please discuss this with your healthcare professional.
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To prevent or reduce the risk of developing other cancer types, such as skin cancer, we recommend symptom awareness and to remain vigilant. If you have a new symptom that lasts for over 2 weeks, it is recommended that you seek medical advice.
When should seek medical advice?
Receiving a diagnosis of Lynch syndrome could bring some uncertainty in your life. You might be more aware of your body’s physical senses and feel unsure when you should seek medical advice.
To try to help you to find out if you need to seek medical advice, we have developed this symptom guide. This list of symptoms is not exhaustive and is based on the NICE NG12 guidelines for the identification of cancer, using the symptoms used for the Lynch syndrome
associated cancers.
If you experience any, or a combination of these symptoms, you might benefit from additional
investigations, or from seeing a clinician to discuss if extra screening is appropriate. Please note that there are quite a few symptoms listed below. Having one of these symptoms usually does not mean that you have developed cancer but may be a symptom which you might want to keep a record of. If you have several symptoms, we recommend that you discuss your group of symptoms with a health care professional as soon as possible.
As a rule of thumb, if you experience a new symptom that is out of the ordinary for over 2 weeks, which is not improving, and you are concerned, seek medical advice by contacting your GP or other healthcare professional. If in doubt, you can visit the NICE NG12 which provides information for the general public on symptoms that might suggest cancer. Note: This symptom guide will help you learn about some of the symptoms that are important to report. However, as already mentioned, is not an exhaustive list, and if you are concerned about a new symptom that is not listed below, seek medical advice.
Symptom guide
Abdominal (Tummy) symptoms
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Lump in your abdomen or pelvis (tummy)
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Vomiting blood
You might also consider keeping an eye on other abdominal symptoms like severe abdominal pain, swollen tommy (or tenderness with clothes becoming too tight around your waist), nausea and vomiting, heartburn or indigestion, and loss of appetite or an early feeling of being full when eating.
Eating & drinking
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Unable to swallow some foods
You might also consider keeping an eye on other symptoms such as swallowing difficulties or trouble eating or feeling full quickly.
Changes in bowel habit
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Bleeding from your bottom and/blood in your stool (poo) (which is not obviously haemorrhoids)
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Discharge from the back passage
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Lump in the back passage
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Severe difficulty in passing stool
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Dark or black stool (which is not obviously related to iron tablets)
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Significant unexplained change in bowel habit
You might also consider keeping an eye on other symptoms such as constipation, diarrhoea (loose watery stools), mild difficulty in passing stool, or new Irritable bowel symptoms.
Urinary
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Blood in the urine
You might also consider keeping an eye on other symptoms such as pain or discomfort when passing urine (which are not due a urine infection), recurrent urine infections, frequent need to urinate, feeling the need to urinate urgently, or a burning sensation when passing urine.
For women
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Post-menopausal vaginal bleeding
You might also consider keeping an eye on other symptoms such as unusual vaginal bleeding or discharge, unusual bleeding between menstrual periods, or pain during sex.
Skin
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New, changing or unusual skin growth
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New skin lesion that bleeds and does not heal
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Unexplained appearance of a lump or discoloured patch in the skin
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Appearance of a new mole
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Change in appearance of an existing mole
General wellbeing
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Problems with vision
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Yellowing of the skin or back of the eyes
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Sudden difficulty walking or balancing
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Seizure
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Sudden unexplained onset of diabetes
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Unexplained weight loss
You might also consider keeping an eye on other symptoms such new onset of back pain, unexplained weight loss, or extreme tiredness for no obvious reason.
Will I develop cancer?
To explain what the likelihood is that someone living with Lynch syndrome will develop cancer, we first need to explain what the likelihood is that someone in the general population will develop cancer.
What does it mean when my doctor or nurse talks about cancer in the general population?
Unfortunately, cancer is common, and in the majority of cases is not inherited. As many as 1 in 2 people will develop cancer in their lifetime. That is 50% of the world’s population.
Most cancers are not inherited and occur out sporadically or ‘out of the blue’. Their origin is based on the tumour cells themselves. Some common reasons for cancer are ageing, exposure to chemicals, radiation, hormones or other factors in the body or environment. Sporadic cancers usually occur at a later age in life because people are not born with a predisposition, and the development of cancer usually takes many years to generate.
It’s important to be aware of this because nobody is free from cancer risk. When clinicians explain to people with inherited cancer predisposition syndromes that they have an increased likelihood of developing certain cancer types, they make comparisons to the general population, so it is helpful to know that everyone is at risk to some extent.
If you are reading this, and you don’t have an inherited cancer predisposition syndrome, it is important to still take steps to prevent cancer from occurring. For instance, take part in national cancer prevention programme such as the National Bowel Cancer Screening programme or the National Cervical Cancer Screening Programme if you are eligible and invited to participate.
Likelihood of developing cancer in Lynch syndrome
The risk or likelihood of developing cancer is there, even in the general population. Lynch syndrome makes certain (not all) cancer types more likely to develop. This is due having less protection from the cancer mismatch repair genes. This doesn’t mean that you will definitely develop cancer, but having less protection makes it more likely.
However, there is a way in which you can balance out this increased likelihood, and that is by taking control and remain vigilant. If you have a new concerning symptom (such as a change in bowel habit, unusual bleeding in between menstrual periods, lumps/swelling in the abdomen, or new/changing or unusual skin growth or lesion) that last for over 2 weeks, we recommend that you seek medical advice.
In addition, it is recommended that you take control of your personalised surveillance programme and follow a healthy lifestyle that will help you to reduce, and balance out, this increased risk of developing cancer, or at least enable it to be detected and treated early. If you have been diagnosed with Lynch syndrome, you can find some general recommendations in the Screening and risk reducing strategies section. Your team will discuss these recommendations, and some other gene specific recommendations, with you.
Not everyone living with Lynch syndrome will develop cancer. The chance of developing cancer is considerably lower in individuals who know that they have Lynch syndrome and follow their enhanced screening programme, compared to individuals who have Lynch syndrome but are unaware of their diagnosis. This is because knowing about the risk gives individuals the chance to take action in a timely manner and can help to ensure that cancer is detected at an early stage so it can be treated more effectively.
It is important to highlight that Lynch syndrome doesn’t usually affect children. This is why the enhanced cancer prevention programs for Lynch syndrome starts between the ages of 25 to 35. The start age of your family cancer prevention programme will depend on which gene is implicated. For instance, individuals with genetic changes in the PMS2 gene have a lower likelihood of developing cancer compared to those who have a genetic change in the MLH1 gene.
However, what really makes a difference is to follow your personalised screening programme, and make sure you make the most of your regular check-ups. In any case, if you have a family history of earlier onset of cancers, make your clinician aware, as you and your family might begin screening a little earlier.
In addition to that, regardless of the age in which your cancer prevention programme starts, it is important to always be symptom aware and to remain vigilant. If you have a new symptom that lasts for over 2 weeks, it is recommended that you seek medical advice, regardless of your age.
It is impossible to know your exact risk or likelihood of developing cancer due to Lynch syndrome because other factors influence the risks such as lifestyle, the foods you eat, and environmental toxins. The way Lynch syndrome behaves in you and your family can be very different as the affected Lynch syndrome genes interact with other genes as well. Family history should be taken into consideration, but each family member will be affected differently.
There are other general lifestyle recommendations that will reduce your likelihood of developing cancer. You can find these lifestyle recommendations in the gene-specific information in the Screening and risk reducing strategies section.
If you would like to have a look at your likelihood to develop cancer in the future, you can use the Prospective Lynch Syndrome Database (link to this in previous section) which was mentioned in previous section. Please, read the helpful tips that will help you to look at the graphs and ask your specialist to go through it with you if the information is unclear. Note that the graphs only provide estimates calculated by research. Some of the estimates (such as the estimates for PMS2) might not be reliable due to the low number of people used in the research.
Is there a cure?
There is no cure for Lynch syndrome, but your clinicians will help you put together a personalised screening programme that will help you manage Lynch syndrome so you can balance out your increased risk of cancer and live a normal life.
I have Lynch syndrome and I have already had cancer. Can I get cancer again?
Yes, cancer can happen again. This is why is important to follow your personalised cancer prevention programme, as this will significantly reduce your risk of cancer, or catch it and treat it early.
Colonoscopy & bowel prep
Colonoscopy is a very common procedure. People living with Lynch syndrome will have a colonoscopy every 2 years.
If you would like to find out more about the colonoscopy, Bowel Cancer UK have very useful resources and a video, which you can access through this link.
Bowel Prep
Before your colonoscopy you will be asked to drink a strong laxative to clean your bowel in the preparation for the procedure. This drink is generally referred to as bowel preparation or “bowel prep”, and for some people is the most challenging part of having a colonoscopy.
It is very important that you follow the instructions, as it is essential that the bowel is thoroughly clean before the procedure. Otherwise, the endoscopist might not be able to see your bowel properly and the colonoscopy might need to be repeated.
There are different types of bowel prep. A specialist nurse or screening practitioner will tell you about your bowel prep by telephone and/or sent instructions in the post. Bowel preparation usually involves a combination of medicine to drink and will give you some preparatory diet advice to follow few days before your colonoscopy. If you haven’t received instructions about your bowel prep, you can visit this website with useful information leaflets. These other documents are also helpful with information about colonoscopy and bowel prep.
I cannot tolerate my colonoscopy. What do I do?
Colonoscopy is the best bowel check-up in Lynch syndrome because it has the advantage that polyps can be diagnosed and treated at the same time. If you cannot tolerate the bowel prep discuss this with your team who will be able to help you identify alternative approaches to help people who are struggling with colonoscopy.
How do I tolerate this Bowel Prep?
For the people who find difficult to tolerate the bowel prep, below you can find some tips. Some of these tips and tricks are not evidence based but have helped some Lynch syndrome UK members to tolerate it. You can try the following:
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Mix Coke Zero/Diet coke with bowel prep. Evidence this is safe to use can be found here
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Chilling the preparation in the fridge
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Drinking it through a straw
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Have something else to drink in between gulps
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Follow a Low residue diet for the 2 or 3 days before the bowel prep (general recommendation is 24 hours, but it helps some people to follow the diet for longer). St Mark’s Hospital produced this diet guide to follow the 3 days before your colonoscopy
Emotional impact and your family
Finding out that you have Lynch syndrome can be challenging. It could be an additional worry as this diagnosis not only affects you but also the rest of your immediate family. To know that you have Lynch syndrome is also life-saving information for you and your
family, as it will empower you and arm you with a personalised enhanced cancer screening programme that could prevent future cancers, or at least help detect them and enable them to be treated early so you can have a normal and fulfilling life.
It is very important that you tell your parents and siblings about your diagnosis, as they have a 50% chance of having the same genetic change. They need to know as they could have Lynch syndrome too, and this information can help them to take steps to prevent or reduce their risk of developing cancer. Your healthcare professional can help you think about how to have this conversation and share this information, and give you a letter to pass on to your family so they can have the genetic blood test to find out if they have Lynch syndrome
I don’t know how to tell my kids or my family
Perhaps one of the most difficult decisions is how to tell your children and how to approach the conversation as they also have a 50% chance of having Lynch syndrome. Deciding how and when to have this conversation can be difficult.
Genetic testing is not recommended for children younger than 18. It is recommended that you answer your children’s questions using language that is easy for them to understand and share the information when you feel they are ready to learn about Lynch syndrome. Younger children might not understand what your diagnosis means to them. Children differ in the age in which they are ready to learn about Lynch syndrome and their risk of developing cancer.
In most cases, children cope better when the family is willing to discuss what is happening. This helps them feel valued and respected. Remember that not everyone living with Lynch syndrome will develop cancer, so your children might not develop cancer. Also, cancer treatments, screening and risk reducing strategies improve over time, so the options that will be available to your children when they become adults might be even better than now. Furthermore, if your children have Lynch syndrome and they wish to have children, they will have additional family planning options open to them if they wish to not pass on Lynch syndrome.
Many people are preoccupied when sharing this information because they are concerned how their relative is going to react. People are concerned about causing anxiety to their family and can feel anxious, guilty or responsible about causing this upset. It is always difficult to share what is considered to be bad news. It can help to think about other times when you share bad news, or think about the benefits of having this information, such as helping your relatives to find out if they have Lynch syndrome, and if they do, to help them to take steps to prevent cancer, as this is life-saving information.
It is important to remember that you are not responsible for having Lynch syndrome. This happens by nature, and it has been passed on to you from your parents, and your parents from their parents and so on. Also, we cannot control the genes that are passed on to our children, and you didn’t know that you have the Lynch syndrome when you decided to have children. You cannot take responsibility for something that you didn’t know about. Sometimes sharing this information can be burden. You can ask other close family members to help you talk to the rest of the family, or to give your family the letters and other information that they need to get tested. Also, remember that your healthcare professionals might be able to help develop strategies to share the information.
Additional support and useful resources
Living with Lynch syndrome can be a double-edged sword. On one hand, it could be worrying to know that you have a higher likelihood of developing cancer. On the other hand, you are armed with knowledge and with an enhanced screening programme that will help you prevent these cancer types and live a normal and fulfilling life. It will empower you to manage your care and reduce the risk of cancer or enable it to be detected and treated early.
It is important to know that you are not alone. There are many people in the UK who live with the same syndrome, just like you, and live a fulfilling life.
If you would like to meet other people living with Lynch syndrome, you are in the right place. In Lynch syndrome UK you will be able to find useful information and resources. We also organise events such as the LSUK Annual patient conference, other events, and online as well as face-to-face support groups.
Additional sources of emotional support
There are additional sources of emotional support. If you would like additional support, we suggest that you discuss your wishes with a member of your healthcare team who will be able to help you or choose and signpost you to the right service.
Below are some of the services available with information about what they offer and how to contact or self-refer to them.
One-to-one therapy: If you would like to access one-to-one therapy, there is a national programme called Improving Access to Psychological Therapy (IAPT). You can self-refer to this service.
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Click on the link and enter your postcode and click ‘start now’.
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It will give you some information about what happens when you self-refer – Click ‘Continue’.
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Enter your GP postcode and you will get a list of service providers.
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Select a service that you can self-refer to and follow the instructions (either fill in the online form or call).
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Someone from the psychological therapies service will get in touch and will give you more information.
Macmillan Support Line: The Macmillan Support Line offers confidential support to people living with cancer and their loved ones. The telephone line is open 8am to 8pm: 0808 808 00 00. There is also an email and online chat function.
Breathing space: Free, confidential, web-based service for people experiencing low mood, depression and anxiety. Tel: 0800 83 85 87
Samaritans: Free, confidential, web-based service providing emotional support to anyone in emotional distress, struggling to cope, or at risk of suicide. Tel: 116 123
Togetherall: Free in some London areas. For anxiety and depression and other common mental health issues. Also provides social support groups.
Every Mind Matters website: This website offers expert advice to help improve your wellbeing, as well as practical tips on sleep, coping with money worries and self-care.
Apps for relaxation, stress reduction and anxiety management
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CATCH IT provides help with negative thoughts. It will help you learn how to manage feelings like anxiety and depression. It will help you to look at problems in a different way, turn negative thoughts into positive ones, and improve your mental wellbeing
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WorryTree to help manage your worries
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My possible self offers simple learning modules to manage fear, anxiety, and stress, as well as tackle unhelpful thinking
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Motivation apps to remain active, drink less, easy meals, smoke cessation, etc
Insurance
If you have been diagnosed with cancer, and you are having genetic testing, you are having a diagnostic genetic blood test. This might confirm your diagnosis of Lynch syndrome.
If you apply for a new insurance after your diagnostic genetic test, companies can ask you about your medical history and any diagnosis that you have. They will also ask you about your family history. You will have to disclose any health condition that has been diagnosed by genetic testing. However, what is likely to affect your insurance
assessment is your cancer diagnosis and family history, even if you recovered from the cancer and treatment has been completed.
What is important to know is that you do not need to disclose that you have a genetic test or your results to any insurance company for the policies that you already have in place.
If you have any questions about how your genetic test could affect your insurance, more
information is available from:
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Insurance implications for family members that do not have cancer and are going to have a predictive genetic blood test are different. More information is available from Genetic Alliance UK.
Government help & Financial support
If you have been diagnosed with cancer you may be entitled to certain benefits or grants but
these are often means tested. Follow the links below for more information.
Can I help? Are there any research studies that I can take part in?
If you would like to help or contribute on service improvement or advancement of medical treatments and take part in research, your clinical team might be able to direct you to opportunities available near where you live. In addition, find below a list of research studies that you might be able to take part on:
LIST OF RESEARCH STUDIES
FIT for Lynch FIT for Lynch Study - New diagnostic techniques for bowel cancer detection and prevention - St Marks Hospital Foundation Bowel screening study
EUROPAC EUROPAC - Giving - University of Liverpool Pancreatic cancer screening trial
I have been diagnosed with bowel cancer.
What do I need to know?
Surgery
If you are found to have a cancer in the bowel then you would be offered an operation to remove part of your bowel(resection). If you carry the MLH1 or MSH2 variant you may be offered a subtotal colectomy, this is when most of the colon is removed leaving the back passage(rectum) in place. If you carry the MSH6 or PMS2 variant, then only a section of the bowel needs to be removed. Your surgeon will discuss in greater detail the advantages and disadvantages of surgery.
You can read more information about the different types of surgery in the specialised page in the bowel cancer UK website
Surgery is generally keyhole(laparoscopic) which reduces length of time to recover in hospital and at home.
Going into hospital
Depending on your surgery you may have to take bowel prep to clear you out, but your team will advise.
You will need a small bag with wash bag, night wear and loose clothes. Phone, tablet and charger are important so you can stay in touch with family and friends.
The average stay in hospital is between 2-5 days, however this will be determined by your type of surgery and how you are recovering.
After surgery
Your bowel habit will be more erratic at first and you will find your poo will be looser and this will take time to settle, and you should speak with your specialist nurse for help and further advice. If you experience bowel problems after your surgery, you might find helpful to visit the Cancer Research UK information about bowel problems after surgery.
Going Home
When home you will need to be careful for a least 6 weeks, this means no heavy lifting or putting too much strain on your tummy muscles. You will need to avoid driving until you are advised by your team it is safe to do so, and you have informed your insurance company.
Most people will manage the normal activities like washing and dressing and cooking a meal, however it is nice to have the support of family or friend. Initially you will be advised to stay on the low fibre diet and then gradually increase the fibre back into your diet depending on your bowel function.
It is quite normal to feel low in mood after surgery and normally this will pass, but it is important to speak with your specialist nurse with any concerns.
Overall, it can take 3 months before you feel like yourself again, this all depends on your previous level of fitness and general health.
Stomabag
During surgery it may be necessary to create a stoma. This is an opening made on the tummy wall and connects to the bowel. This means poo with pass through and be collected into a bag that is worn over the stoma. The stoma nurses at the hospital will teach and support you so you can manage the bag at home.
There are different types of stoma, a colostomy and ileostomy and these can be permanent or temporary dependent on the surgery you have.
People with stoma bags can lead a normal life, with careers, family, playing sport and travel.
Further information and support are available at:
Colostomy UK: Free, confidential, web-based service that offers information, support and empowers people living with a stoma. Their 24-hour stoma helpline Line offers confidential support to people living with a stoma and their loved ones. Tel: 0800 328 4257
Macmillan, what is a stoma?: Free, confidential, web-based service providing information and support. Macmillan Support Line: The Macmillan Support Line can also answer your questions about stomas. It offers confidential support to people living with cancer and their loved ones. The telephone line is open 8am to 8pm: 0808 808 00 00. There is also an email and online chat function.