Lynch Syndrome – Living With Faulty Genes

As all our regular readers know already, I have Lynch Syndrome. Most people have never heard of it. I hadn’t until my womb cancer diagnosis and the subsequent discovery that I have Lynch.

Yet Lynch Syndrome is one of the most common hereditary conditions. Scientists estimate that one in 300 people carry the mutation. Most carriers just don’t know it.

Lynch syndrome is a genetic mutation
Photo by National Cancer Institute on Unsplash

A Brief Recap On What Lynch Syndrome Is

It is a hereditary genetic fault that increases the risk of certain cancers, including colorectal, womb and ovarian cancers.

When the oncologists examined my tumour following the hysterectomy, it showed a genetic mutation. There was a loss of MSH2 and MSH6 genes. These genes provide instructions to make protein that helps to repair DNA and stop erroneous DNA from dividing. Without the genes to make the protein, the faulty DNA continues to divide unchecked.

MSH2 and MSH6 are not the only genes scientists have identified with Lynch Syndrome. They are the ones I’m missing. Other variations include alterations to MLH1, PMS2, and EPCAM genes.

I have explained the genetics in more detail in a previous post for those who wish to dive deeper into the science.

Living With Lynch Syndrome

While having Lynch Syndrome helps to explain why I got womb cancer at a young age, I would have preferred not to have it and blame my lifestyle alone for the cancer.

Before I continue, I would like to remind everyone that womb cancer can affect women of any age with or without a genetic risk factor. Yes, it is more common in women who have gone through menopause, which is why my doctors said I was young to get it. But remember, any age – so always seek medical advice if you have any concerns about your periods. 

MSH2 risk for Lynch Syndrome carriers
Screenshot from a guide to Lynch Syndrome

I have included a screenshot (which is why it’s not the best quality) of how a mutated MSH2 gene increases a woman’s risk of getting cancers linked with Lynch Syndrome. It is from A Beginner’s Guide To Lynch Syndrome from The Royal Marsden. You can find the rest of the tables and a lot more information about Lynch in the guide.

Knowing that I have a higher cancer risk than the general population sucks. As does the fact that my sister has inherited the gene, too, and we both got it from our mum.

We all face a lifetime of colonoscopies and heightened scrutiny of potential symptoms. My sister has also had preventative surgery to remove her womb and ovaries launching her into an early menopause.

The Flipside

There is always the other side of the coin. The more positive side. And that is:


Photo by National Cancer Institute on Unsplash

We will have regular colonoscopies, which are far from fun, but can detect any signs of colorectal cancers early before they have a chance to spread. During a colonoscopy, the doctors can remove any polyps and send them for analysis. The survival rate for colon and rectal cancers when detected at stage one is 90% and 89%.

Having A Genetic Mutation Doesn’t Mean You Will Definitely Get Cancer

I believe that lifestyle choices play a huge part in whether you get cancer. Why else would I have been the first in our family to get cancer linked with Lynch?

Often families that carry the gene have a history of colorectal or endometrial (another word for womb) cancers. In my case there was no warning, no previous diagnosis of womb or colorectal cancers in the family. This is why even the genetics doctor said, based on the family history, it looked unlikely I’d have the gene. This was obviously before the test came back showing I have it.

My mum, who we inherited the genetic mutation form, is nearly 70 and has never (thank God) had cancer. Her parents – one of whom must have been a carrier – lived into their nineties and died of non-cancerous reasons.

When I compare their lifestyle to mine, there is only one conclusion I can make.

Exercise helps to combat side-effects of chemotherapy
Yoga helped then and still helps to deal with the stiffness in joints I have been left with

Lifestyle choices matter. 

It is so important to look after your body and mind, and I will do everything in my power to prevent the cancer coming back.

Coming To Terms With It All

It hasn’t been easy. The worst thing was finding out that my sister and mum had it, too.

It is extremely rare, but not impossible, for a person to develop a genetic mutation. I honestly hoped that I would have been that rare case. But alas, I am not that much of a medical miracle.

Since my mum has the mutation, it meant that her siblings could have it, too. We already know her brother’s result, which thankfully was negative. We are still waiting for my aunt’s results. I’m praying the mutation has skipped her too, since she has four daughters.

Knowing that we have capable doctors looking out for us helps to deal with it all. As does thinking about how much more the scientists are learning about cancer all the time. They are developing better ways of treating cancer patients and detecting cancers early. They are also constantly learning more about cancer genetics.

Since my diagnosis, I have joined LS groups on Facebook, and that has been an enormous support. Talking with others who have known about their mutation for a long time, really helps. As does learning as much as I can about it, keeping up to date with the latest research and doing my part in spreading awareness.

What Should You Do If You Suspect You Have A Genetic Mutation?

You are more likely to have a mutation linked to Lynch Syndrome if there are cancer patterns in your family. For example, if there are cancer diagnosis before the age of 50. Perhaps there have been several family members over generations who have had a cancer linked with the altered genes.

If you are worried about cancer patterns in your family, talk to your GP. Get them to refer you to a genetics specialist to discuss your concerns.

For further reading, I would recommend this guide from MacMillan for anyone who has concerns.

Thank you for being here and reading the post. 

Until next time!

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