Author: Lynch Syndrome Ireland

Two Fellows Use Online Resources to Boost Genetic Testing

The most commonly cited barriers to testing are lack of awareness, difficulty of access, and cost. (USA)….despite known benefits, uptake for genetic testing has been slow: only 1 in 5 individuals use recommended genetic services even when there is a significant family history of colorectal, breast, or ovarian cancer.

Early detection of hereditary cancers and subsequent medical or surgical intervention decreases mortality, therefore this missed opportunity means an immense loss of lives.

https://www.onclive.com/view/two-fellows-use-online-resources-to-boost-genetic-testing

The National(UK) Lynch Programme supported by 40tude

Most people with Lynch syndrome are well, but someone with LS has a 40-70% chance of developing colon cancer, and women also have a similar risk of cancer of the womb.  All those with LS have an increased risk of many other types of cancer.   The genetic mutations which cause Lynch Syndrome can be passed on from one generation to the next, with a 50% risk of a child inheriting this condition.

The programme has four main aims:

1) Effective diagnosis and identification of people with LS in the UK

2) Improve understanding of the biological mechanism of cancer development of people with LS

3) Develop additional tests which facilitate the prevention and early diagnosis of cancer in people with LS

4) Reduction in the variation of – and improvement in access to – care for people with LS in the UK

Lynch Syndrome: everything you need to know(Ovarian Cancer Action UK)

A genetic mutation like Lynch syndrome is not a guarantee that you will develop cancer, but it gives you an increased risk that you will be diagnosed with certain cancers in your lifetime. 

https://ovarian.org.uk/ovarian-cancer/lynch-syndrome/

Experiencing ovarian cancer symptoms? How to talk to your GP about your concerns

GPs play a crucial role in the diagnosis of ovarian cancer. There are several reasons why ovarian cancer might not be on a GP’s radar if a patient presents with its main symptoms, particularly as ovarian cancer symptoms are vague and may be caused by more common conditions. We know, however, that sometimes women feel like their symptoms are not being taken seriously or have been misdiagnosed.

We always advise anyone to go to a doctor if they feel something isn’t right, but how do you make yourself heard?

https://ovarian.org.uk/news-and-blog/blog/talk-to-your-gp-about-your-concerns/?utm_source=Ovarian+Cancer+Action&utm_campaign=6850e04740-EMAIL_CAMPAIGN_2022_WOCD_W3_SYMPTOMS_DIARY&utm_medium=email&utm_term=0_b6c18b0915-6850e04740-67401291

Symptoms Diary:

https://cdn.ovarian.org.uk/media/documents/Symptoms_diary_A5_V10.pdf?utm_source=Ovarian+Cancer+Action&utm_campaign=6850e04740-EMAIL_CAMPAIGN_2022_WOCD_W3_SYMPTOMS_DIARY&utm_medium=email&utm_term=0_b6c18b0915-6850e04740-67401291

thisisGO.ie is an online personalised resource for you and yours who have been impacted by a gynaecological cancer.

This programme is part of the Irish Cancer Society’s Women’s Health Initiative (WHI), the aim of which is to improve health and wellbeing for women impacted by cancer who are dealing with the side effects and consequences of treatment.

Phases of thisisGO

Phase 1 was launched on September 20th 2021.  It is a personalised
online resource for women impacted by cervical cancer. If you have a partner in
your life, this platform can also support them. If you are a health care
provider working in the area this can also support you and your
practice. 

If you are newly diagnosed, receiving treatment, in surveillance
or living well with and beyond cancer thisisGO.ie has information that is
tailored to meet your needs.

Phase 2 covered ovarian cancer and was launched on the 4th of
February 2022

Next Phase due shortly will cover Genetic Cancers including BRCA and Lynch Syndrome

It is hoped that the remaining three gynaecological cancer and
GO cancer genetics will be complete before the end of 2022.

Each gynaecological cancer has different symptoms.

If you are experiencing any of the symptoms in the chart below for more than two weeks, please make an appointment to see your doctor to discuss further.

You may feel embarrassed discussing some of these symptoms, this is normal, your doctor is here to help, and it may save your life.

(www.thisisgo.ie)

Biomarkers in Colon Cancer: What Does High Microsatellite Instability Mean?

“Tumours that are MSI high have a lot of mutations on their surface. A lot of mutations are needed for the immune system to recognise the cancer.
For the majority of solid tumours, the immune system doesn’t really care that you have cancer.
But in tumours that are MSI-High, they have a lot of proteins on their surface that are kind of like signs for the immune system to say ‘Hey, I’m here! Come fight me!’ And then the immune system sees those mutations, kicks in, and sends T cells.”

If the tumour is dMMR/MSI-H, additional tests are required to determine if the MSI-H is caused by Lynch syndrome….”

B E A T OVARIAN CANCER

Did you know that more Irish women die from ovarian cancer than any other European country? I didn’t.

One of the main reasons for this is because symptoms can be vague, and the majority of women (75%) are diagnosed with late-stage disease.

Neither of us want to be part of these statistics but symptoms can be vague and similar to other conditions such as irritable bowel syndrome.

Contact your GP if you have any of these BEAT symptoms for three weeks or more as these may be warning signs of ovarian cancer:

                            ·  B loating that is persistent and doesn’t come and go 

                            ·  E ating less and feeling full more quickly 

                            ·  A bdominal and pelvic pain you feel most days 

                            ·  T oilet changes in urination or bowel habits 

https://www.rte.ie/player/series/today/SI0000000197?epguid=IH000403530

Dr Doireann O’Leary (@WorldOvarianCancerDay @RTEToday) talks about the importance of being symptom aware and shares the meaning of BEAT.

She also talks about the importance of ‘the big T’, ie getting Treatment early. If someone has these symptoms it likely is something less serious than Ovarian Cancer but the most important thing is not to brush it off, do go to your GP and get checked and try to get in to the habit of doing that. Building this habit greatly increases the chances of early diagnosis.


A GP blood test that could help diagnose ovarian cancer faster and more accurately

https://www.wellbeingofwomen.org.uk/news/a-gp-blood-test-that-could-help-diagnose-ovarian-cancer-faster-and-more-accurately

“This is the first time that HE4 has ever been evaluated in a primary care setting, so it will be exciting to see larger-scale studies implemented to further assess its effectiveness as a diagnostic aid. Earlier diagnosis will have important implications for women’s treatment, care and ultimately, survival.”