Facts about Lynch Syndrome

This blog post is dedicated to Georgia Hurst (@ShewithLynch) as she is a tireless campaigner on Twitter for those with lynch syndrome and she is constantly trying to raise awareness.

 

This is my first factual blog since my little break so I would just like to reiterate that although I spend about a week researching and writing the factual posts, I am not medically trained so please always consult a doctor if you have any worries about your health.

 

What is Lynch Syndrome?

Lynch syndrome is also known as hereditary non-polyposiscolorectal cancer (HNPCC) and is a type of inherited cancer of the digestive tract. Those diagnosed with lynch syndrome have a significantly increased risk of developing colorectal cancer s well as an increased risk of other cancers such as cancer of the uterus, stomach, breast, ovaries, pancreas, prostate, liver and kidney.

 

Lynch syndrome is a possible diagnosis in families with multiple cases of colorectal cancer and there is an increased chance of a lynch sufferer developing several cancers in their lifetime. Lynch syndrome sufferers are more likely to be diagnosed with cancer at a young age with the average age being around forty five. Their cancer is also more likely to be diagnosed on the right side of the colon.

The diagnostic criteria for lynch syndrome is called the Amsterdam Criteria. This has been modified over time so it includes the various cancers that are seen in families with lynch syndrome. The modified list is as follows:

*Three or more relatives with a lynch syndrome related cancer; one of these relatives must be a first degree relative – i.e. parent, sibling or child)

*At least two generations with cancer (i.e. parent and child)

*One or more cancer cases diagnosed when the person is aged fifty or under

*When Familial Adenomatous Polyposis (FAP) is ruled out as the cause

 

The definition of lynch syndrome is still evolving as more is discovered about it. A family could have lynch syndrome even if they do not meet the above criteria in full. A meeting with a genetics counsellor is advised if you think your family is at risk of lynch syndrome.

Causes of Lynch Syndrome

Lynch syndrome is a genetic condition which means the risk of cancer is passed from generation to generation within a family. There are several genes which have been found to be linked with lynch syndrome including MLH1, MSH2, MSH6, PMS2 and EPCAM. A mutation in any of these genes will give someone an increased risk of developing colorectal cancer in their lifetime as well as increasing their risk of developing other cancer related to lynch syndrome. Women with lynch syndrome will also have anincreased risk of uterine and ovarian cancers.

Most lynch syndrome mutations are found in the MLH1 and MSH2 genes but not all families with lynch syndrome will have mutations in the genes mentioned in the above paragraph and research is still ongoing with this subject. Changes in these genes could also occur due to increased age and there may be other causes which are not yet understood.

How is Lynch Syndrome Inherited?

Every cell normally has two copies of every gene, one which has been inherited from your mum and one from your dad. Lynch syndrome follows something called an autosomal dominant inheritance pattern which means only one of these genes needs to become mutated to give a person an increased risk of getting a particular disease. So if a parent with a gene mutation can either pass along a copy of their normal gene OR a copy of the gene with a mutation. This means a child with a parent who has a gene mutation has a 50% chance of inheriting the mutation.

Is Lynch Syndrome Common?

Colorectal cancer normally occurs by chance and has no known cause but around 3-5% of cases are though to be related to lynch syndrome.

Diagnosing Lynch Syndrome

If a family matches the Amsterdam Criteria then it can be diagnosed via a blood test which will determine if someone has a mutation in any of the genes associated with lynch syndrome.If someone is diagnosed with cancer and their family history indicates lynch syndrome then tests can be performed on the tissue or the tumour to determine if lynch syndrome is likely. These screening tests are microsatellite instability testing (MSI) and immunohistochemistry testing (IHC). These tests will show if more specific genetic testing is required. Genetic testing is normally only advised for patients with a family history that could indicate lunch syndrome as most cases of colorectal cancer are normally random and without a known cause.

 

Cancer Screening for Lynch Syndrome Sufferers:

If you are diagnosed with lynch syndrome then you shouldundergo regular screening. The screening will differ dependingon the person but normally the following will occur:

*You will have a colonoscopy every 1-2 years starting from around the age of 20-25

*Upper endoscopies periodically to check for signs of stomach or intestinal cancer

*Yearly urine cytology screening for urinary tract cancer

Women may also have:

*Yearly pelvic examinations and smear tests as well as transvaginal scans

*CA125 blood tests to check for ovarian cancer

 

These tests do differ so if always check with your doctor if you feel you should be screened for something.

 

As someone who has lost family members ot genetic mutations, I strongly urge anyone with a strong family history of cancer to seek advice from their doctor and/or a genetics counsellor to see if something such as lynch syndrome runs in your family. If your family does have a genetic mutation then it is vital you are aware of it so that you can have regular screening.

 

For more information on lynch syndrome and other types of genetic mutations please visithttp://www.cancerresearchuk.org/cancer-help/about-cancer/causes-symptoms/genes-and-inherited-cancer-risk/inherited-genes-and-cancer-risk/inherited-genes-and-specific-cancers

 

Cancer Research UK Volunteer Showcase - Nicola Stojkovic

I came across lovely Nicola on Twitter (you get to meet some lovely charity related people on Twitter!!) and quickly became chatty with her.  I’m always in awe of the exceptionally busy people who still find the time to do things for charity, they always make me feel mega lazy!

Nicola lives in Easingwold with her husband and two beautiful children. She is a brilliant fundraiser for CRUK and is a really lovely and supportive friend. She has kindly agreed to let me share her advice for wannabe volunteers and her reasons for working with CRUK.

What made you decide to volunteer for Cancer Research UK?

My Dad was 47 when he was diagnosed with Oesophageal cancer in 1997. A fit, healthy and non smoker. My Dad was lucky, the cancer was detected early and he made a full recovery. He is one of those we call a lucky one ~ a survivor. That is why I support Cancer Research UK. My hope is that one day maybe not in my lifetime but in my children's there will be a cure for cancer. I have been volunteering for CRUK since my youngest child started school in September 2008.

What sort of things do you do for the charity?

Over the last 6 years I have done a variety of things from been the secretary of the committee I'm part of to serving teas and coffees, helping to run stalls, collecting money outside Tesco, volunteering at local Race for Life events to organising big events. In 2009 I organised my first event, a children's fun day. I invited the local school's orchestra and choir to perform and a local dance school who performed too. I even managed to get a local theme park to sponsor the day! I had the usual stalls and raffle. The day was a massive success. It was after that day, that I was asked by my area manager if I would organise a Little Legs for Life event. Little Legs for Life is an event for children in essence a Race for Life for children. I have since organised two Little Legs for Life and I'm currently organising my third.

 

What are your favourite aspects of volunteering for the charity?

Probably knowing that I am making people aware of the work that Cancer Research do and where the money raised goes. People often ask me that! I have met many new people too, not just where I live but from other area's of the UK. It is always nice too, when people at events come up to you and thank you for what you do or ask if I will be doing Little Legs for Life again. Do I have any future volunteering plans? I would like to get more involved with Race for Life. I volunteered at two local events in June and loved it! I would also like to organise a black tie dinner!

 

What advice would you give to anyone considering volunteering for CRUK?

Do it! The new skills, knowledge and experience you gain will help you enhance your CV. Meeting new people is always nice. I have always been supported by my area volunteer manager. It can sometimes be hard work and at times stressful organising an event but once the day is over and you count up how much you raised you know it was worth it.

 

 

Nicola is currently getting ready to host her next Little Legs for Life event. If you live in Easingwold or the surrounding area I can highly recommend going along to this event, it is so much fun and has a lovely atmosphere!! I’m hoping to do an event with Nicola in the near future, she certainly knows her stuff and I’m honoured she allowed me to share her thoughts here today. Thanks Nic!! xxx

What a Week!!

If I needed proof that I'm out the other side and truly happy after the last few months then this last week has been it! Spending time with so many of the people I care about has been brilliant. 

Not only did I have a brilliant time with the Ambo family on Wednesday, receive my special commendation and get my MP to agree to support CRUK's early diagnosis campaign but I spent an amazing day with my friends at Race for Life Blackheath today. The atmosphere was brilliant, so many lovely ladies took part even though the weather was completely horrible first thing this morning! If you've never done Race for Life then you should definitely sign up next year girls! 

I thought I'd share some photos of the week here, maybe it will convince someone to volunteer in the future, there's nothing like it! 

Some of the messages I've received this week have been so lovely, I'm really grateful for the incredibly supportive people in my world. Thank you to everyone who has made my week so special xxx

CRUK Campaigns Ambassador Showcase - Sue Duncombe

I think everyone knows how much I value being part of the CRUK Team Ambo. The people I've got to meet through it are incredible. Many of them are my friends now and I'm hugely proud to work alongside them to do something we are all so passionate about. They inspire me and I'm frequently left in awe by each and every one of them.

Sue is a really lovely, generous and talented lady. She pushes herself and completed brilliant challenges for CRUK. She's a very deserving winner of a 2014 Flame of Hope Special Commendation and I was really honoured to be named alongside her and the others, especially as I could never cycle from London to Paris like Sue did!

Sue is about to embark on the Yorkshire 3 Peaks challenge for CRUK. She's kindly allowed me to share her story on my blog today and I'm really honoured. Have a read about this amazing lady and please sponsor her if you can at http://www.justgiving.com/Sue-Duncombe1

What made you decide to volunteer for CRUK?
My family has been significantly impacted by cancer. Mum died of cancer in 2003, dad survived both prostate and stomach cancer and my husband, Philip, was diagnosed with prostate cancer in  Jan 2005, age 52 and died in December 2009. Initial surgery in May 2005 appeared successful. However, 12 months later he was discovered to have metastases in lymph nodes. By December 2008 all licensed treatment options had been exhausted and we were desperate for him to be entered into a study of a promising new agent ,abiraterone. This drug changed our lives for 7 months. He went from being very ill at Christmas 2008 to booking flights to Cape Town in February 2009 to join some friends on a golfing holiday.  This drug was initially developed by CRUK. I feel absolutely passionate about the quality time this drug gave us and recognise the importance of patients getting access to effective treatments to  provide them and their families such quality of life. Philip was always incredibly positive during his fight against cancer and has been described as inspirational by many of our friends and contacts. I was inspired and want to make my contribution to help other cancer patients and their families.

What sort of things do you do?
I have my role as Cancer Campaigns Ambassador, which involves political lobbying. I'm really proud to be part of this Team of such motivated individuals. We can make a difference by influencing Government. In addition I participate in sponsored activities each year to raise funds. I've done Shine in Manchester and London as well as Race for Life. I get a lot of satisfaction from doing my own physical challenge each year, last year my friends and I cycled from London to Paris. It was hard work,but great fun! This year we're doing the Yorkshire 3 Peaks in 12 hours

What are your favourite aspects of volunteering for the charity?
The camaraderie of the Ambassador group is fantastic. In any of the CRUK events I've participated in there's such a great positive spirit. Everyone has the same ultimate goal - to beat cancer sooner.

Do you have any future plans for your work with CRUK?
I want to get more involved with other CRUK volunteers in my area. My Ambassador colleague, Gemma Swiers and I are involved with a CRUK pilot project in Oxford which is all about creating synergies across the various CRUK groups in the area. We're planning to raise the profile of the Ambassador group at some of the events in the area

What advice do you have for anyone considering volunteering for CRUK? 
What are you waiting for?! Like most things in life, if you put in the effort, you'll get personal satisfaction from contributing. In addition you'll meet some fun people!

Sue, congratulations on your special

commendation, it's so well deserved! It is a privilege to work alongside you and call you my friend xx

The End of an Era.

Exactly two years ago yesterday I sat at my computer and started this blog. It became a creative outlet for the wannabe writer within. I learnt lots, I achieved lots and I wrote lots. I have loved this blog and all it has done for me. Almost 31,000 worldwide views later and the time has come for me to admit defeat and admit that I just don’t have any time to dedicate to the research needed to write this blog. It is a painful decision to make, which has been made harder by the slight lack of understanding by some about just how much this blog and my voluntary work means to me.

Thank you so much to every single person that has read this blog, sent me messages about the blog, written for the blog or just shown support for the blog. It really means a lot to me and if this site has helped just one person then it has all been worth it!

This blog has been a saviour to me, a creative outlet for the grief I feel about those I have lost. A way of learning more about the disease that has affected so many people I love. A way of expressing my emotions and my feelings.

Thank you for your support J xx

Guest Post - Elizabeth Bailey

Another blog post by one of my wonderful fellow ambassadors, and a real inspiration of mine, for you to enjoy today. Elizabeth is a wonderful lady, full of passion, intelligence and a real zest for life. I am honoured that she has allowed me to share some of her thoughts with you.

Elizabeth Bailey is Cancer Research UK’s Campaigns Ambassador for Luton South and on the Committee of CR UK Luton Relay for Life. Following a brush with breast cancer, she recently gave up a twenty-year Civil Service career and now combines being a postgraduate student with working in her local Public Health Team, and being a mum to two young daughters.  Elizabeth writes on cancer, and being a volunteer:

Over the past week, a family friend has been faced with the possibility that the breast cancer, for which she was successfully treated thirteen years ago, had returned, this time in her bones – secondaries, for which we know there is no cure.

The news stopped me in my tracks. Over time, I had come to the conclusion that the cancer for which I myself was treated three years ago was one of the best things that ever happened to me.  I’ll explain further why thought this, but for now, I’m having to consider that the life enhancing things which have come my way since then may have done so at some considerable cost – and only time will tell.

Early in 2010, I found myself sitting in a rain-drenched hospital car park howling with animal rage because I thought I would not see my little daughters grow up. But chemo, much surgery and radiotherapy have since been and gone.  It is now 2013, and the cancer, fingers crossed, is also gone.  But not the rage.  Cancer, in all its unpleasant incarnations, is now my chosen enemy. 

Everyone should have an enemy, don’t they say – it gives you purpose and direction, something to fight against. It did me. I now devote a good third of my time to helping dismantle this enemy, picking it apart bit by bit, with money, science, politics and the best efforts I can make to weaken it. I hope that even if it is still strong enough to take my friends, or even me, it will be a shadow by the time my daughters have to think about it. It’s in my sightline, and I’m proud to be called obsessive. One of my fellow CRUK Ambassadors, Jan Sheward, once vividly described to me her feeling of controlled rage about cancer.  Right on. I’m cool, calm, and armed with lots of facts and figures. Whoever wants to take me on, good luck.

Don’t misunderstand me - I respect my enemy, and it has given me things.  A whole host of new friends, for one.  Some really exciting, career-enhancing volunteering opportunities for another.  The courage to make a major change. Oh, and something to study for my PhD.  I really can’t complain about all of that. 

But there won’t be any gratitude. On Tuesday last week I went to the House of Commons with my fellow Ambassador Gower Tan, telling Peers and MPs why they should be playing their part in the further crowding-out of tobacco products by supporting an amendment to the Children and Families Bill.  This would enforce standardised cigarette packaging in shops where children are able to see those products. Yes, that’s right. Let’s not mess about here, the moral argument is won.  Peer-reviewed evidence proves that pack marketing attracts children. So we need to stop a toxic, addictive product, and the number one preventable cause of cancer, being dressed up in a completely misleading way. The game is over.  It’s now about taking timely action to save real people’s lives, and I will be making this very clear indeed.

We will win on this point.  It is not matter of if, but of when.  Funnily enough, until recently I used to rail against people describing cancer treatment as a ‘battle’, a ‘fight’ or a ‘war’. I had sad images of my old Dad, too weak to fight. But guess what - I’m getting over myself. If it helps some people to think like that, so be it.  Besides which, I think you can see I’m a bit of a street fighter myself - and I am not putting my coat back on just yet, not until I’m finished.

Remembering Bengu Shail - Greek, Turkish and Cypriot Bone Marrow Donors Needed

Bengu Shail was a fellow Cancer Campaigns Ambassador for Cancer Research UK. She sadly died at the age of thirty five earlier this year after a long batter with cancer. Unfortunately I didn’t get to know her very well but she has still impacted my life in a positive way and I wanted to use a blog post to pay tribute to her and help pass on the message she worked so hard to raise awareness of.

Bengu volunteered for several charities including Macmillan and CRUK. She also fundraised, campaigned and advocated. A lot of this was done from her hospital bed or whilst she was undergoing treatments. I am told she had a very positive outlook on life and was always very selfless.

Bengu was diagnosed with ALL (acute lymphoblastic leukaemia in September 2009. She went into remission after two years of intensive treatment and began working for Macmillan as a Case Studies Officer, helping other cancer patients. Sadly she was informed in October 2012 that the disease had returned and Bengu’s only hope was a bone marrow transplant.

Like my family, Bengu was from Cyprus (North Cyprus to be precise). Unfortunately Anthony Nolan were unable to find a matching donor on their UK register. Patients are more likely to find a match if they have a similar ethnic background and sadly the Greek, Turkish and Cypriot community are hugely underrepresented on the register in the UK.

Bengu herself once said “All of us want a cure for cancer. In my case, the cure is no in the hands of scientists, it is in the hands of my community – selfless people who are willing to spare a few hours of their time to give someone like me a chance to live.”

As a fellow Cypriot I think the best way for me to honour this incredible lady is to look into ways of becoming a bone marrow donor and encourage people from the same background as me to do the same. The Greek and Cypriot communities are famous for their hospitality and their sense of community. I for one have always been hugely proud to be a Greek Cypriot and I feel if we can be helping save each others lives by donating some bone marrow then we should be doing this!!! So if you’re one of my fellow Cypriots – please do check out Anthony Nolan and see how you can go about donating some bone marrow - you could save the life of a fellow Cypriot!

Bengu sounds like an incredible woman and I’m so sad that I didn’t get an opportunity to get to know her. I’m also very sad that this inspiring young lady was taken in the prime of her life. I hope others can be saved by her important message and her memory lives on with an increase in bone marrow donors from the Greek, Turkish and Cypriot communities.

To look into becoming a bone marrow donor please visit http://www.anthonynolan.org/

To donate in memory of Bengu please visit http://www.justgiving.com/remember/78465/Bengu%20-Shail