Most people diagnosed with colorectal cancer are at least 65 years old, but I was only 45 when doctors discovered my cancer, which they believed had been growing inside me for at least a decade. As someone who exercises regularly and maintains a healthy diet, I was shocked by my diagnosis.My doctors and I assumed that it was simply a case of bad luck.
“as many as 10% of colorectal cancer patients have an inherited gene mutation that caused their illness. I should know, because I was one of them.”
“I’ve heard people say that they don’t want to get genetic testing because there’s no way to prevent hereditary cancer, therefore it’s better not to know. But that couldn’t be further from the truth.”
The BowelScreen programme will send an invitation to men and women aged 60 to 69 years to take part in the programme.
If you are aged between 60 to 69 years and living in Ireland, you can ring BowelScreen on Freephone 1800 45 45 55 to check your details are on the register.
A BowelScreen home test kit will be sent to you in the post with instructions about how to do the test.
If you have any concerns about your bowel health or symptoms you should contact your GP immediately.
Symptoms of bowel cancer
The symptoms of bowel cancer can include:
Bleeding from the back passage or blood in your poo;
A change in normal bowel habits;
A lump that your doctor can feel in your back passage or abdomen (more commonly on the right side);
A feeling of needing to strain in your back passage (as if you need to pass a bowel motion), even after opening your bowels;
Losing weight;
Pain in your abdomen or back passage; or
A lower than normal level of red blood cells (anaemia).
The four primary care (PC) core functions (the ‘4Cs’, ie, first contact, comprehensiveness, coordination and continuity) are essential for good quality primary healthcare and their achievement leads to lower costs, less inequality and better population health. However, their broad definitions have led to variations in their assessment, in the innovations implemented to improve these functions and ultimately in their performance.
Conclusion:
Providing clear, well-defined operational elements for these 4Cs to measure their achievement and improve the way they function, and identifying the complex network of interactions among them, should contribute to the field in a way that supports efforts at practice innovation to optimise the processes and outcomes in PC.
Dana-Farber’s Matt Yurgelun, MD, discusses Lynch Syndrome research and the challenges of a Lynch Syndrome diagnosis. Dana-Farber’s Lynch Syndrome Center offers genetic testing to help identify Lynch Syndrome carriers who may be at increased risk for a variety of cancers.
According to the HSE’s website, there is “room for improvement” in the medical genetics and genomics services offered in Ireland when compared to other European countries. (perhaps an understatement???)
The strategy states: “To date, Ireland has made some progress in developing its genetic and genomic services, with pockets of excellence evident throughout the country. However, to fully realise the benefits of genetics and genomics, there is an urgent need to mainstream them so that they can become an integral part of our routine care delivery.”
Strategies are very helpful in healthcare because a strategy gives you a sense of direction….
Provided for under this strategy is:
the creation of a new national office for genetics and genomics
the transition of genetics and genomics into routine care delivery
targeted workforce planning and development
ensuring Public and Patient Involvement (PPI) and partnership
the strengthening of Ireland’s infrastructure to drive advances in this area.
On the impact of the national office, Dr Henry predicted there will be a high level of activity “in year one, and the office will drive it”. He said it will “become the engine of what happens in year two, three, four, and later”.
Also, the office will “advocate” and “compete for funding each year”.
As our understanding of disease evolves, it is very clear that genomics will inform much of the decision-making
To explain what constitutional mismatch repair deficiency (CMMRD) is, we first need to talk about Lynch Syndrome. Lynch Syndrome increases a person’s risk of getting certain types of cancer in their lifetime, including bowel cancer, which is the most common cancer associated with this genetic condition.
What is Lynch Syndrome?
Lynch Syndrome affects genes called mismatch repair genes. They are genes responsible for correcting changes in genetic code when cells grow and divide. As the cells grow and make copies of their DNA, they can make mistakes, which mismatch repair genes rectify so that those errors don’t lead to cancer. So if these mismatch repair genes are abnormal or have a “mutation”, they may not repair those mistakes and cancer can occur.
What is CMMRD?
CMMRD, like Lynch Syndrome, is a genetic condition that makes it more likely for a person to get certain types of cancer, except this time it occurs when a child has inherited mutated genes from both parents, and the cancer risk is even higher. PMS2 is the most commonly affected gene in CMMRD.
To illustrate this: If mum has one “good” copy of the gene and one bad copy, I could inherit her good gene or her bad gene. And the same goes for my dad. My sister could inherit both of their good copies, and therefore doesn’t have Lynch Syndrome or CMMRD, and neither do her children. Whereas if I inherited both of their bad genes I therefore have CMMRD.
It is thought that… As many as 1 in 300 may have Lynch Syndrome, while the odds of having CMMRD are one in a million – or 0.0001%.
Safe and effective cancer prevention strategies are critically needed to improve the life quality and longevity of LS and other Hereditary Cancer Syndrome carriers.The era of precision oncology driven by recent technological advances in tumor molecular profiling and a better understanding of genetic risk factors has transformed cancer prevention approaches for at-risk individuals, including LS carriers.
Here, they discuss recent advances in precision cancer immunoprevention approaches, emerging enabling technologies, research gaps, and implementation barriers toward clinical translation of risk-tailored prevention strategies for LS carriers.
The success of FSP neoantigen(mutation)-based cancer vaccines for LS cancer prevention will hopefully demonstrate the potential marketability of cancer preventive vaccines in the next decade, which will bring an increasing interest from the private sector and can lead to the partnership opportunities between academia, government, and industry for the betterment of quality of life for LS and other high-risk populations.
Lynch Syndrome Ireland 