Tag: health

The comprehensive English National Lynch Syndrome Registry:

Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes.

To date, fragmentation of clinical and genomic data has restricted understanding of national LS ascertainment and outcomes, and precluded evaluation of NICE guidance on testing and management. To address this, via collaboration between researchers, the National Disease Registration Service , NHS Genomic Medicine Service Alliances, and NHS Regional Clinical Genetics Services, a comprehensive registry of LS carriers in England has been established.

The most frequently identified pathogenic MMR genes were MSH2 and MLH1 at 37.2% (n = 3362) and 29.1% (n = 2624), respectively. 35.9% (n = 3239) of the ENLSR cohort received their LS diagnosis before their first cancer diagnosis (presumptive predictive germline test). Of these, 6.3% (n = 204) developed colorectal cancer, at a median age of initial diagnosis of 51 (IQR 40–62), compared to 73 years (IQR 64–80) in the general population

The establishment of a secure, centralised infrastructure and mechanism for routine registration of newly identified carriers ensures sustainability of the data resource.

https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(24)00044-0/fulltext

Living Beyond the Diagnosis: Lynch Syndrome Awareness

My paternal family medical history is marked with early-onset colorectal cancer. Learning about my genetic status was a life-changing experience. The discovery that my condition was hereditary meant that my family members, including my son, could also be at risk. Certified genetic counseling played a crucial role in my journey, helping me comprehend the significance of genetic testing and how to manage my health moving forward. 

If you meet one or more of the red flags below, I urge you to consult with your doctor and a certified genetic counsellor: 

  • Family member with a confirmed diagnosis of Lynch syndrome 
  • Colorectal and endometrial cancer diagnosis at any age, particularly after pathology testing shows alterations related to Lynch syndrome
  • Multiple primary cancer diagnoses
  • Several family members have had cancers related to Lynch syndrome.

Despite the challenges, living with Lynch syndrome has empowered me to make informed health choices, advocate for better healthcare, and support others, striving for a healthy, fulfilling life.

https://www.ihadcancer.com/living-beyond-the-diagnosis-lynch-syndrome-awareness

One test to detect multiple cancers – where are we now?

Most cancers diagnosed at an earlier stage have a better prognosis. Detecting and diagnosing cancer earlier can mean there are more treatment options for patients and, ultimately, can help people survive cancer and lead longer, better lives.  

What are multi-cancer tests?

As described above, an MCT is a tool that searches for multiple cancers in one sample, typically blood, urine, breath, or stool. All MCTs share some similarities, but the ways they identify cancers can be slightly different.  

MCEDs(multi-cancer earlier detection tests) could completely change what cancer screening looks like by making it possible to screen for multiple cancers with one test. MCEDs could also allow us to screen for cancers that aren’t covered by individual screening programmes, including less common cancers. That means MCEDs could be a more efficient way to find more types of cancer earlier, when they are more curable, helping people live longer, better lives. 

https://news.cancerresearchuk.org/2024/06/12/multi-cancer-tests-mced-tests-where-are-we-now/

Individual Health Identifier (IHI)

Did you know….

The Health Identifiers Act 2014 was enacted by the government to allow two new national data collections–called the National Register of Individual Health Identifiers and the National Register of Health Service Provider Identifiers to be created and operated.

An Individual Health Identifier (IHI) has the following benefits for you:

Improved accuracy in identifying you and your medical records will
lead to safer and better care being provided to you.
Improved accuracy in identifying and associating your records in
different healthcare organisations.
Your health information can be shared safely and seamlessly
between health service providers, for example on referral letters
sent from a private GP to a public hospital.
The use of an Individual Health identifier also enables the
electronic transfer of your health information, which results in faster
care for you.

Medical or clinical information will NEVER be stored on your IHI record. Health
service providers may however use your IHI, to uniquely identify you, when
communicating with other health service providers about your care for example
when a medical consultant is corresponding with your GP or visa versa.

Click to access questions-regarding-the-individual-health-identifier-ihi-number.pdf

What increases my risk of uterine (womb) cancer?

The cause of uterine (womb) cancer is unknown. But there are certain things called risk factors that can increase your chance of developing the disease. These include:

  • Age: It is more common in women after the menopause between the ages of 50 and 64.
  • Being overweight: If you are overweight, your risk of uterine cancer is increased.
  • Hormone replacement therapy (HRT): If you are taking oestrogen-only HRT for a long time after the menopause, your risk of uterine cancer is slightly increased.
  • Family history: Family history of uterine cancer in a first degree relative (mother, sister, daughter). If you have an inherited faulty gene, it raises your risk of developing uterine or bowel cancer. In a small number of families, this faulty gene can cause a condition called Lynch Syndrome .
  • No pregnancies: If you have not had children or never been pregnant, your risk of uterine cancer is increased.
  • Polycystic ovaries: If you have polycystic ovaries, your risk is increased. This is a condition where cysts grow in the ovaries.
  • Menstrual history: If your started your periods early in life and / or started your menopause later, your risk is higher. 

https://www.cancer.ie/cancer-information-and-support/cancer-types/uterine-womb-cancer/what-increases-my-risk-of-uterine-womb-cancer

Ciara shares how knowledge of her Lynch Syndrome status enabled her to avail of risk-reduction measures that prevented endometrial cancer

We wish to thank Ciara for allowing us to share her story for World Gynaecological Oncology Day. Ciara hopes by sharing her story she can raise awareness of the role genetic risk-factors play in the development of gynea cancers and give hope to others 💜

Over the years, I was aware of Lynch syndrome due to several members of my Mum’s family having it. My great aunt had wrote out a family tree of all family with the inherited gene. That valuable information was then transferred to the genetics clinic.

After a blood sample in 2017, the genetics clinic confirmed that I had Lynch Syndrome with MSH2 gene alteration. It was recommended that I go for a colonoscopy every two years.

Two years ago I was referred to the Gynaecology department for surveillance. Blood tests, ultrasound tests and endometrial biopsies were offered. It was then I started to research the lifetime risk of endometrial cancer associated to MSH2 (40-60%) and understand the importance of surveillance. My endometrial biopsy confirmed I had atypical endometrial hyperplasia which is a pre-cancerous condition of the uterus. Having risk reducing surgery at 44 was the only and logical thing to do my situation. It has been a lot to process emotionally at times, but I am fortunate to have a loving partner, friends, family and other outlets for support. Under the exceptional care of Dr Astbury and her team at UHG, I had a full abdominal hysterectomy in February this year and have recovered well. I am very lucky the endometrial biopsy surveillance was done when it was. The early detection prevented me from needing further treatment after my surgery. I will be forever grateful for everything Dr Astbury and her team have done in order to protect my health.  

Ciara Donoghue

#WorldGODay2024 #GynaeCancers #riskfactors #earlydetection #HereditaryCancers #CancerGenetics