Category: Endrometrial
The English National Lynch Syndrome Transformation Project
There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families.
Existing guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome.
….Another approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics.
Conclusions
Whilst there is increased awareness of the cancer risks associated with LS, and other aspects of the condition, by clinicians, there remain significant gains which can be made in diagnosis and subsequent lifelong management of people with LS.
Effective diagnosis needs to deliver people with this condition to effective clinical risk mitigation through a range of mechanisms including nationally coordinated and quality-assured colonoscopic surveillance.
In this project, we have aimed to develop expertise within cancer teams across England, with clear responsibilities, leadership from within which will ensure that the patients they are managing with cancer will receive appropriate testing and delivery diagnosis.
The responsibility for managing cascade testing remains with specialist genomics services.
However lifelong care of people diagnosed with this condition depends on awareness of who this population is, as defined through a national registry, and access to regional multidisciplinary expertise.
https://www.bsg.org.uk/service-success-stories/the-english-national-lynch-syndrome-transformation-project/
Be aware of gene changes and cancer in your family and take part in screening to reduce your risk of cancer.
Bowel cancer: What role do our genes play?
A person’s risk of developing colorectal cancer is influenced by lifestyle factors, such as a low-fibre diet and lack of regular physical activity; however, as is the case with breast cancer, some inherited genetic variants increase the likelihood of a person developing colorectal cancer.
Lynch syndrome
A person who inherits Lynch syndrome will have a high lifetime risk of colorectal cancer, as well as increased risk of some other types of cancer. It can be caused by variants in one of four different genes (MLH1, MSH2, MSH6and PMS2) that code for essential DNA repair proteins.
In all four genes, only one affected copy is needed to cause the increased cancer risk. This means that Lynch syndrome is inherited in a dominant pattern in families.
People who have Lynch syndrome are generally advised to have a colonoscopy every two years so that cancers can be identified and removed at an early stage. For affected women, a hysterectomy and removal of the ovaried and fallopian tubes are often considered too, because there is a significant risk of endometrial and ovarian cancer.
Lynch Syndrome Booklet -Eve Appeal(UK)
Lynch Syndrome and understanding your options
People with Lynch Syndrome are at a higher risk than the general population of developing some cancers. Identifying people who have Lynch Syndrome can have important benefits, including prevention of cancer, spotting it early and helping doctors decide on the best treatment for people who do develop cancer.
This booklet aims to help you understand more about the syndrome, what your options are…
Lynch Syndrome: A Single Hereditary Cancer Syndrome or Multiple Syndromes Defined by Different Mismatch Repair Genes?
The risks of cancer (cumulative risks for various cancer types) differ among Lynch syndrome patients based on the specific altered MMR gene.
It may be appropriate to consider categorising Lynch syndrome as 4 distinct syndromes based on the specific altered MMR gene.
The varying carcinogenic mechanisms and associated cancer risks indicate the need for gene-specific surveillance recommendations in Lynch syndrome.
Moreover, the growing understanding of gene-specific differences will likely affect treatment options and efficacy of Lynch syndrome vaccines.
Studies of larger sample series are needed to definitively confirm the differences in mutational features identified across Lynch syndrome tumors and to evaluate the associated clinical consequences.
https://www.gastrojournal.org/article/S0016-5085(23)00696-0/fulltext
Hereditary Cancer Model of Care launched yesterday in Ireland
This provides the blueprint for the necessary development of hereditary cancer services in Ireland.
Lynch syndrome quick guide for Primary Care clinicians
7 things men should know about genetic testing and cancer
While the cause of most cancers is unknown, about one in 10 cancers are caused by changes in genes that can be passed down in families.
The lifetime risk of developing colorectal cancer is up to 52% for people with a gene mutation associated with Lynch syndrome, compared to about 4% for the general population.
These people also tend to get cancer at an earlier-than-average age. It’s estimated that less than 10% are aware of their status.
NCCN: Genetic/Familial High-Risk Assessment: Colorectal (01.2023)
NCCN expanding genetic testing to “Any Lynch related cancer” instead of colon and endometrial cancer as one of the testing criteria
Lynch Syndrome Ireland 