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It is estimated that around 1 out of every 125 people are at risk of Lynch syndrome.

However, it’s thought 95% of the carriers of these Lynch Syndrome mutations are unaware that they are at risk.

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

A team of scientists in Newcastle have been awarded £2 million by NHS England, to roll out a new method of screening for cancer. Sir John and his colleagues, including Ms Rachel Phelps, a research PhD student in the Cancer Research UK-funded Cancer Prevention Group at Newcastle University, redesigned the Newcastle MSI-Plus Assay.

This has recently become the standard test in North East England to find people with LS among those diagnosed with bowel cancer. MSI, which stands for microsatellite instability, shows that an important DNA repair system isn’t working. Most LS patients are in this group. The test is being evaluated for national rollout.

People with Lynch Syndrome can benefit from screening programmes that enable cancers to be found at an early stage when they can be cured. LS carriers are at high risk of cancers of the bowel and womb, and screening is available for these using colonoscopy for the large bowel and ultrasound for the womb. Unfortunately, the urinary tract has been ignored because there are currently no cheap, non-invasive screening methods that can reliably detect tumours here. Cancer of the upper urinary tract is the third most common cancer associated with LS.

“This test can be carried out at low cost and in high numbers. It will help to identify thousands of cancers earlier, when it is easier to treat, giving a much more positive outcome for patients and families.”

If a person with cancer is detected as having Lynch syndrome, a DNA test can then be offered to their relatives to see who else has the condition, so that they can then be put on a regular programme of checks. 

Simple, cheap urine test can detect urothelial cancers in Lynch Syndrome patients

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

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Gynaecological cancers refer to any cancer of the female reproductive system which includes the uterus (womb), the ovaries, the cervix (the neck of the womb), the vulva (the outer part of the female genitals) or the vagina.

Patient and public involvement throughout the project. An Irish resource for an Irish audience.

Research

Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition. This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer.

https://www.aboutgeneticcounselors.org/Resources-to-Help-You/Post/lynch-syndrome-a-common-yet-under-recognized-hereditary-cancer-predisposition

Let’s be clear: DNA companies offer you cheap DNA analysis not because they want to help you find your ancestors and living relatives, or your precise ethnicity, or your possible risk for developing various medical conditions, but for the same reasons Google offers you free searches, or Facebook a free social media universe. Once you opt in to sharing your data, you are the product.  

https://www.irishtimes.com/business/technology/don-t-buy-online-dna-ancestry-tests-you-are-the-real-product-1.3713619

How are you?

The EU-wide approach should be applied beyond COVID-19. Cancer is a pandemic of its own, representing a real threat to European citizens and societies. Its already high prevalence is projected to continue to increase. 

Personalised medicine, through wide and timely access to biomarker testing, has the potential to transform cancer care and provide significant benefits to people living with cancer, healthcare systems and societies in general. It can fundamentally change what it means to receive a cancer diagnosis and live with cancer. Yet throughout the EU, uptake of genomic technologies for biomarker testing remains sub-optimal owing to a range of factors, including low awareness, inadequate infrastructure and lack of EU guidance on the value of testing.

A working group of leading experts and stakeholders from the EU oncology community was convened to create a report with actionable policy recommendations to address barriers to the delivery of personalised medicine – and specifically to support the implementation of one flagship in Europe’s Beating Cancer Plan, ‘Cancer Diagnostic and Treatment for All’ initiative. The recommendations call on the European Commission to:

1. Lead awareness campaigns to increase understanding of the benefits of biomarker testing
2. Develop EU-wide guidance on personalised medicine, including recommendations on biomarker testing as an indicator of quality in cancer care
3. Build the infrastructure required for optimal uptake of biomarker testing
4. Facilitate the development of specialised knowledge, including undergraduate, post-graduate and ongoing professional training in personalised medicine
5. Mobilise resources to promote equal access to personalised medicine

Much of what upsets us is outside the control of those doing the upsetting. Remembering that can reduce a lot of the frustration we feel over late deliveries, call centres, over-stretched health services and more. We still won’t like these experiences but we can hope to keep our stress and frustration levels to a minimum.

Try: Thinking of annoying experiences you expect to have today, decide in advance to maintain a background awareness of your breathing – to keep presence of mind – while going through them.(Padraig O’Morain)