Lynch syndrome - information for patients
Lynch Syndrome for patients
What is Lynch Syndrome?
Lynch Syndrome is an inherited genetic condition that increases a person’s risk of developing certain types of cancer. The most common cancers associated with Lynch Syndrome are colorectal (bowel) cancer and, in women, endometrial (womb) cancer. There is also a slightly increased risk of ovarian and other cancers, depending on the specific gene involved. Risk levels vary between individuals and are influenced by factors such as gender, family history, and lifestyle.
I t’s important to understand that not everyone with Lynch Syndrome will develop cancer. However, knowing about the condition means that we can offer you screening to detect many problems at an early stage, when they are more treatable. There is also a huge amount of research in progress to find new ways of screening for developing cancers.
Managing Your Health with Lynch Syndrome
Your care plan will be tailored to your specific genetic findings. Not everyone will need the same screening, and your healthcare team will guide you through what’s appropriate for you.
Key Screening and Monitoring Options
1. Bowel Screening
All individuals with Lynch Syndrome should be registered with the National Bowel Cancer Screening Programme. This service has been set up specifically for individuals with Lynch Syndrome, and they will invite you for a colonoscopy (camera test for the large bowel) once every 2 years. These procedures are carried out by specialists trained to detect the subtle changes associated with Lynch Syndrome, and every effort is made to ensure the process is as comfortable as possible.
2. Prostate Screening
Some Lynch Syndrome genes (particularly MLH1 and MSH2) are linked to a higher risk of prostate cancer. Men with these gene variants may wish to discuss annual PSA (Prostate Specific Antigen) blood tests with their GP from the age of 40. PSA is a screening tool and may lead to further tests if levels are elevated. More information is available at www.nhs.uk/conditions/psa-test.
3. Skin Monitoring
Lynch Syndrome is also associated with some very specific skin changes (sebaceous neoplasms and keratoacanthomas). If you, or a family member with Lynch Syndrome develops a Lynch related skin lesion, it would be important for you and your relatives to be seen by your local dermatology team. They can advise on what to look out for and when to seek further assessment.
4. Symptom Awareness
Being aware of symptoms that could be linked to Lynch Syndrome is vital. If you experience persistent or unusual symptoms, seek medical advice promptly and mention your diagnosis. Additional resources and symptom checklists are available on this site.
How Can I Reduce My Risk of Cancer with Lynch Syndrome?
If you have Lynch Syndrome, there are several proactive steps you can take to lower your risk of developing cancer. These include medical treatments and lifestyle changes.
1. Test for a common stomach bacteria called Helicobacter Pylori (H. pylori)
H pylori is a bacteria that can live in the stomach. It may not cause any symptoms, but its presence is linked with indigestion and stomach ulcers. We know that infection with this particular bacteria is associated with an increased risk of stomach cancer, as it causes chronic inflammation in the stomach.
We recommend everyone with Lynch Syndrome has a test for this bacteria (by stool or breath test ideally). If the bacteria is found, a short course of antibiotics (usually two weeks) can clear the infection. This is typically a one-time treatment.
2. A daily dose of Aspirin
A daily dose of aspirin has been shown to reduce the of risk bowel cancer in Lynch syndrome by around half, and it also lowers the risk of other Lynch Syndrome-associated cancers. The protective effect was seen in individuals who took aspirin for two - four years, and can continue after they had stopped the aspirin.
We strongly recommend all individuals with Lynch syndrome take aspirin, unless there is a good medical reason not to.
Current guidance:
- 150 mg daily if you weigh under 70 kg
- 300 mg daily if you weigh over 70 kg
This is higher than the standard 75 mg dose. The CaPP3 study is ongoing, and is aiming to work out the most effective dose for people with Lynch Syndrome> They have begun to release some of their results now. We are hoping to clarify if a small dose of aspirin (75mg) is sufficient to reduce the risk of cancers.
We recommend aspirin is taken between the ages of 18 to 60 years. The benefits and risks can be reviewed after this, but use beyond the age of 70 is inadvisable. This is because it does not seem to have the same protective effect against cancer after 70 years, and the risk of side effects increases after this age (particularly after 65 years).
Important: Before starting aspirin, you should:
· Have your blood pressure checked
· Be tested for H. pylori
· Discuss with your GP to ensure it’s safe for you, even if you plan to buy it over the counter
3. Preventative surgery (Womb, ovaries and fallopian tubes)
Depending on your specific gene variant, you may be at increased risk of womb or ovarian cancer. Currently, there are no reliable screening methods for these cancers.
Some individuals may consider preventive surgery to remove the womb, ovaries, and fallopian tubes, typically after age 35–40, when the risk begins to rise. This is a personal and complex decision that should be made in consultation with a gynaecologist, taking into account:
· Your family history
· Menopause status
· Other medical factors
If you're considering this option, please contact our team for a referral when the time is right
4. Lifestyle Changes
Lifestyle changes are also very important when it comes to reducing our cancer risk. We know that being over your healthy weight increases your cancer risk. We recommend avoiding smoking and minimising alcohol intake, as these will all lower the risk of cancer.
You should try to minimise the amount of red and processed meat in your diet. There is also evidence showing that increasing dietary fibre and resistant starch in particular, is beneficial in Lynch Syndrome. This might not be suitable for individuals who have had bowel surgery. Please see the helpful resources section for more information.
How is Lynch Syndrome Inherited?
Lynch Syndrome is inherited in what is known as an autosomal dominant fashion. This means that there will be a 50% chance of a child being affected with this condition, if their parent is. Because Lynch Syndrome runs in families, we recommend that close relatives are offered genetic testing to check whether they carry the same gene change. We will provide you with a letter that you can share with your relatives, which includes information on how to arrange an appointment at their local Clinical Genetics Centre.
When Should Genetic Testing Be Considered in a Relative?
Genetic testing is usually offered to individuals who are old enough to make an informed decision—typically from adulthood. While bowel screening for Lynch Syndrome begins at age 25, some people may wish to consider testing from age 18, especially if they are thinking about starting aspirin as a preventive measure.
Before testing, individuals will be offered a genetic counselling appointment. This provides an opportunity to learn more about Lynch Syndrome, understand the implications of testing, and discuss practical considerations—such as how a result might affect things like insurance applications.
Family planning
There are options when planning a family. This includes testing in a pregnancy and an IVF type procedure to ensure a baby does not inherit Lynch Syndrome. We are happy to discuss these options with individuals if they would like. We recommend you meet with us prior to becoming pregnant.
Helpful Resources
Lynch Syndrome App
There is an app developed by Lynch Syndrome UK and East Genomics which has much more information and is a good resource to have at your fingertips. It allows you to keep track of your screening and this can be downloaded from app stores.
Download the Lynch Syndrome app here
LSUK
Lynch Syndrome UK is a charity that aims to provide information and support for individuals with Lynch Syndrome. There is lots of information about Lynch Syndrome on their website.
Bowel Cancer UK
Lots of information about bowel cancer, with some specific information on Lynch Syndrome.
East Genomics Network
Some specific Lynch resources for patients and health professionals, and includes link to East Midlands Lynch Syndrome Expert Network
RM partners
Lots of information on Lynch Syndrome including the testing required to make a diagnosis.
UK Cancer Genetics Group
Clinical guidance for each particular Lynch Syndrome gene for health professionals. Links to information and tips for healthy eating in the info and education section.
NUH Lynch Syndrome Leaflet
Genetics leaflets can be found on the NUH website here
Symptoms to watch out for
Please remember that these symptoms do not necessarily mean that you have cancer, but you should speak with your GP and mention you have Lynch Syndrome if they occur and are persistent. It is important to do this even if you have recently had a colonoscopy or are due to have a colonoscopy in a few months. The routine bowel cancer screening is not a test for when you have symptoms, and you should seek a review for new symptoms even if you have recently had a colonoscopy.
Symptoms to be aware of and report to your GP promptly:
- Gynaecological: Abnormal bleeding pattern (vaginal bleeding after the menopause, heavy periods, bleeding between menstrual cycles, and vaginal discharge). Unusual and persistent bloating.
- Urinary tract: blood in the urine or in semen, loin pain, new changes to passing urine (e.g. more frequent need to pass urine, a feeling of not having emptied the bladder fully, or poor stream of urine)
- Gastrointestinal tract: New and persistent indigestion, nausea or abdominal pain. Feeling full earlier than expected, or difficulty swallowing, fresh blood in the stools or dark tarry stool
- Skin: New mole or lesion that’s changing size, colour or is persistently itching or bleeding
- Other: any unintentional weight loss, feeling more tired than usual for some time, new and persistent headaches, persistently feeling sick (nausea), being sick (vomiting), especially in the morning.
Research Opportunities
There is lots of research going on to improve care for individuals with Lynch Syndrome. Please contact us if you wish to find out more information about a specific study.
PRESCORES Study - Open
This study uses questionnaires to collect data on quality of life in women in Lynch Syndrome, who have, and have not had surgery to remove the womb, ovaries and tubes. We hope the results will mean we can provide women who are contemplating this surgery with more information about the effects on quality of life, so they can make the right decision for them.
It is open to women 18 years or older who have not had womb, ovarian or cervical cancer. Please contact us to request an information pack if you are interested in joining this study.
EUROPAC - Open
There is a slightly increased risk of pancreatic cancer for some individuals with Lynch Syndrome. We do not have a proven screening test for pancreatic cancer currently. Some individuals consider joining the EUROPAC trial. This is a research study looking at how we can best screen for pancreatic cancer. There is more information at www.europactrial.com.
Profile Study - Open
This study is running at the Royal Marsden Hospital and requires individuals to visit London. It aims to develop prostate screening for men who have a higher risk of prostate cancer. It is open to men with an increased risk of prostate cancer who are 40-69 years old. There is more information at www.royalmarsden.nhs.uk/profile-study .
Please contact us to request an information pack if you are interested in joining this study.
Future Research Studies
We are expecting a nationwide study to open next year, which is looking at whether we can detect cancers in the kidneys, bladder and connecting tubes, using a simple urine sample. There may also be a similar study to detect cancers in the womb. Please keep an eye on this site for more information.
Information for patients
As long as the referral is appropriate, an appointment will be scheduled. Currently many appointments are being held virtually by video or over the telephone. Alternatively, your appointment may be at a hospital or clinic near to your home. If you need to be seen in a specific specialist clinic you may need to travel further. Your appointment letter should state clearly whether your appointment is face to face, telephone or video. We will try to arrange the appointment for a clinic date and time convenient to you. We only have clinics on particular days of the month in many locations so, sometimes, choices will be limited. We will sometimes ask you to bring a relative with you to the appointment. Consultations usually last around 45-60 minutes.
Appointments
Your care within the clinical genetics department will depend on your particular circumstances and whether there is a clear diagnosis in you or your family members. You may be seen by a genetic counsellor or a specialist genetic doctor (Clinical Geneticist) and may need one or several appointments.
First contact
The initial contact may be with a genetic counsellor or a genomic practitioner. You will either get a telephone call or receive an appointment by post for you to come straight to the clinic. In this appointment you will be able to tell us your view of the referral and what questions you would like us to try and answer.
To help to give you accurate information and decide the next steps for your care there will also be a detailed discussion about any relevant medical and family history.
We may ask you some details about your close relatives to help us with a diagnosis. These details include:
- their full name
- their date of birth
- their address
If appropriate, it may also be helpful to know:
- if they have been given a diagnosis of a genetic condition
- if so, when and where they were diagnosed or treated
Please note that we will not contact any of your relatives directly without you having discussed this with them first and will not ask for the medical records of relatives without their permission.
After the appointment / Further appointments
An appointment with a specialist genetic doctor is always needed if a medical examination is required to try to make a diagnosis of a genetic condition. At this appointment the doctor will review the information you gave in the initial appointment, and they may ask to examine you. Sometimes it is necessary for the doctor to gather more information or to arrange tests.
After the appointment the Genetic Counsellor or Doctor will usually write to you summarising the information you have been given and/or give you a detailed information leaflet. Usually only one or two clinic appointments are needed. However, some people may need to be seen again to discuss results or for follow up. We may also offer to see other family members if appropriate.
Testing
Testing
If genetic testing can be offered, we may need to take a blood sample at your appointment or ask you to have a sample taken after the appointment. Some conditions may need more than one appointment before a blood sample is taken for genetic testing especially if having a predictive test. Predictive testing is when you are considering being tested for a condition previously diagnosed in your family that may develop in the future.
Sometimes a saliva sample can be taken instead, but not for all tests. If this or other tests are needed, we will discuss this with you, ask for your consent and then make the arrangements. Before any procedure or test is carried out you must give your permission. This is giving your consent. Genetic tests are often complex and the results can take several weeks or months. As genetics is a developing branch of medicine it is not yet possible to offer genetic testing for all conditions.
Tests we may offer include:
- Carrier testing
- Diagnostic testing
- Pre-symptomatic or predictive testing
- Pre-natal diagnosis
There are different ways to look at the genetic information, depending on what you are looking for. Your clinician might talk to you about
- Chromosome tests (microarray or karyotype)
- Molecular testing for one gene, or a panel of genes
- Whole genome sequencing (WGS)
Whole Genome Sequencing (WGS)
Whole Genome Sequencing (WGS) is a relatively new technology that looks at an individual’s genetic information.
For further information please follow this link:
What is Genetics?
Genetics is the study of the way in which we share some features within our family, and how we pass some of these on to our children. Sometimes conditions, which can affect our health, are also passed on through our genes. Clinical Genetics looks at how these inherited conditions are passed on in families.
What happens in the Clinical Genetics Service?
- Doctors and Genetic Counsellors give people information about these conditions and how they are inherited. We can discuss:
- The diagnosis, cause and treatment of genetic conditions
- How likely they are to happen in a family
- The choices members of the family have
- The possible effects on the family and support available
- Options regarding pregnancy and reproduction
- We aim to give information which may help you to make your own decisions.
What is Genetic Counselling?
Genetic counselling appointments will provide information about genetic conditions, and discuss any options available to individuals and their families in a non-directive way. You will not be advised on what you should or should not do but these appointments will facilitate you to make the best decisions for your own particular situation. It is not a therapeutic counselling service.
How do I get referred to the Clinical Genetics department?
We would advise asking your GP or a specialist doctor for a referral if you are concerned about a family history of a cancer or medical condition. If your relative has previously been seen by the Clinical Genetics department (for example, if there is a known gene alteration in your family) please include this information in your referral request.
Why have I been referred?
Some people are referred because our specialist doctors may be useful in making a diagnosis in their family. We also see families to discuss the implications of a genetic condition, which is already known to run in the family.
I need an interpreter, what should I do?
If you need an interpreter for your appointment, please let us know by calling on 0115 962 7728. Some of our staff speak some additional languages or can arrange an interpreter if required.
Can I bring someone along to my appointment?
Yes, you can bring a support person along to any of your genetics appointments, whether they are virtual or face-to-face. However, they will sometimes need their own appointment if they wish to pursue testing for themselves.
Patient information and leaflets
You may be given an information leaflet in your appointment to help explain the genetic condition which is being discussed. Many of these leaflets also include details of patient support groups and sources of more information and are reviewed regularly by our team.
A list of leaflets currently available in our Patient Information section.
Additional Resources for Families
NottAlone
Local mental health advice and help for young people in Nottingham and Nottinghamshire. If you are aged under 25, are a parent or carer, or a professional that supports young people, you can find information, advice and where to go to get help locally.
Nottingham Children’s Hospital Community Paediatric leaflets
www.nuh.nhs.uk/childrens-leaflets?smbfolder=964
- Help for Having a Healthy Headspace: concerns about a child or young person’s mental health or emotions.
- Leaflets on ADHD, Autism Spectrum Disorder, Tics/Tourette’s
- Sleep difficulties, and common medical concerns like constipation etc.
Nottingham CITY: Ask Lion
Excellent and easy to use site with information about organisations and services in the City of Nottingham. Where to get help with health, finances, housing, Special Educational Needs and Disabilities (SEND), support groups, and things to do.
Nottinghamshire COUNTY: Notts Help Yourself
Excellent and easy to use site with information about organisations and services in the County. Where to get help with health, finances, housing, Special Educational Needs and Disabilities (SEND), support groups, and things to do.
Ask us Nottinghamshire
Tel: 0115 804 1740 enquiries@askusnotts.org.uk
Impartial information, advice and support for parents / carers about Education and Special Educational Needs (SEND) from 0 - 25 years.
Health For Teens
https://www.healthforteens.co.uk/
Website designed for teenagers that covers everything from relationships and sexual health to school to mental health to lifestyle. It also has extra sections for those in Leicestershire and Nottinghamshire.
Health For Kids
Has a section for adults (grown-ups) and a section for children. Has information and advice about health worries in children as well as extra sections for those living in the Nottingham area www.healthforkids.co.uk and www.healthforkids.co.uk/grownups/
Medicines For Children
www.medicinesforchildren.org.uk
Information for parents and young people about medicines, side effects, and other important useful information. Type in the name of the medicine or type of medicine to find the one you are looking for. Includes drugs for epilepsy, ADHD etc but also how to give medicines like tablets, drops, sprays etc.