“I was diagnosed with ovarian cancer in April 2006 at the age of 48…my mother was a long-term survivor of four primary cancers: endometrial cancer aged 46, ovarian cancer at 58, colon cancer at 65 and finally breast cancer when she was 83.”

“I went for genetic testing, which showed that we are affected by Lynch syndrome.  My particular gene mutation MSH6 predisposes to various gynae cancers, especially endometrial, but puts me at very high risk of colon cancer, so I have a colonoscopy every two years.  I am now on the CaPP3 trial, which is a dose-ranging study of aspirin in Lynch syndrome patients.”

- Hilary

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Lynch syndrome is caused by a rare inherited genetic mutation in any one of five genes MLH1, MSH2, MSH6, PMS2 and EPCAM. Lynch syndrome used to be known as hereditary non-polyposis colorectal cancer (HNPCC), but the condition can increase the risk of many different types of cancer, including certain types of ovarian cancer. The definition of Lynch syndrome is still evolving as we understand more about it.

The increased risk of developing cancer, and which cancer, will depend on which gene carries the mutation. There is more information on this in The Royal Marsden A Beginners Guide to Lynch Syndrome.  

The lifetime risk of developing ovarian cancer for someone without a genetic mutation is around two per cent. The lifetime risk of developing ovarian cancer when you have a Lynch syndrome mutation is listed below:

Gene mutation

Carrier lifetime risk

MLH1

10–15 per cent

MSH2

10-17 per cent

MSH6

 approx. 10 percent

PMS2

Similar to general population

EPCAM

Unknown

Figures taken from Prospective Lynch Syndrome Database (plsd.eu)

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Testing for Lynch syndrome

If Lynch Syndrome is suspected to be the cause of someone’s cancer, often the first step is to check the person’s tumour for certain features related to Lynch Syndrome.  Since 2017, NICE recommends that the tumours of all people newly diagnosed with colorectal cancer should be assessed for features of Lynch syndrome. Research is on-going to determine if this type of testing should also be extended to tumours of the womb and certain tumours of the ovary.

If you are concerned about your family history of cancer, you can speak with your GP about a referral to a genetics service. The genetics service will talk you through the test before you decide whether to go ahead. If genetic testing confirms that you carry a mutation, the genetics service can explain what this means for you and your family and ways of managing your individual risk.

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Managing risk

If you have a Lynch syndrome mutation there are steps you can take to manage your risk of developing cancer. Your doctor will be able to advise you further on this.

It is important to be aware that these are risk reducing strategies - they do not eliminate risk entirely.

Screening

People with Lynch syndrome are eligible for bowel cancer screening from the age of 25 or 30 depending on the gene involved. This involves a colonoscopy (using a camera to take pictures of the bowel) every 1-2 years and the removal of any polyps or abnormalities that are found.

Screening for the other Lynch associated cancers has not been proven to be effective. There may be further screening services available in some areas but these are not routinely available across the UK.

People with a mutation in the MSH2 gene and a family history of certain types of skin tumours may also have yearly appointments with a dermatologist for skin examinations.

Surgery

At present, the only proven way for women at high risk of cancer of the womb and/or ovary to manage their risk is to consider preventative surgery (removal of the uterus, ovaries and fallopian tubes, known as a Risk-Reducing Hysterectomy and Bilateral Salpingo-Oophorectomy, RR-BSO), usually after family planning is complete. If you have not yet had your menopause, this will mean you will experience surgical menopause. There are ways to manage the effects of this and you can discuss these with your medical team.

Aspirin

There is ongoing research into whether taking aspirin regularly may reduce the risk of developing cancer for some people with Lynch syndrome.

The CAPP2 study showed that 600mg of aspirin taken daily for an average of about two years significantly lowered cancer risk in individuals with Lynch Syndrome. This is a large dose of daily aspirin which is not recommended outside of the research study at this time. Further studies are needed to decide the best dose.

The CAPP3 study will aim to address this question.  Until the analysis of the CAPP3 data is complete, NICE recommends that people with Lynch Syndrome take a low dose of aspirin (75mg daily), after discussion with their GP.  

There is further information on research into Lynch syndrome here.

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Symptoms awareness

It is important to be aware of what is normal for you and your body, and discuss any persistent changes with your GP.

Our B.E.A.T campaign  raises awareness of the signs and symptoms of ovarian cancer.

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Further sources of information:

The Royal Marsden A Beginners Guide to Lynch Syndrome

Macmillan Cancer Support information on Lynch syndrome

Ovarian Cancer Action blog post about Lynch syndrome

Lynch Syndrome UK is a charity which provides support, information, signposting and listening and educates members of the general public and healthcare professionals.

Lynch Syndrome UK summary of screening

Lynch Syndrome UK online forum

Lynch Syndrome International

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