Lynch Syndrome Ireland

Constitutional (germline) vs Somatic (tumour) variants

Constitutional (also known as germline) variants are present in all the body’s cells, including the germ cells, and can therefore be passed on to offspring; somatic variants arise during an individual’s lifetime in tissues other than the germ cells and so are not passed on.

The identification of a germline variant in a mismatch repair (MMR) gene in a patient with colorectal cancer has implications for the clinical management of the current cancer and the patient’s future cancer risk. It should also trigger cascade screening in the wider family.

(Cascade testing is the process of informing family members of a genetic condition discovered within the family, followed by family members getting tested for the condition.)

MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1

Our study has shown that while the genetic predisposition for many early onset ovarian cancers is still unknown, MSH2 is the most important EOC predisposition gene at age <35 years.

The cumulative likelihood of an EOC in MSH2 heterozygotes would appear to be >2% by 35, with this likelihood still below 0.5% for BRCA1 and rare for BRCA2; indeed, two-thirds of cases identified in BRCA2carriers may not have been driven by HRD.

This increased incidence despite the good long-term survival in MSH2 should prompt awareness of the increased risk and consideration for early risk-reduction strategies.

(Flaum N, Crosbie EJ, Woodward ER, et al MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1 Journal of Medical Genetics Published Online First: 09 March 2023. doi: 10.1136/jmg-2022-109055)

https://jmg.bmj.com/content/early/2023/03/08/jmg-2022-109055.share

Cancer Prevention Recommendations

“Our Cancer Prevention Recommendations are the conclusions of an independent panel of experts – they represent a package of healthy lifestyle choices which, together, can make an enormous impact on people’s likelihood of developing cancer and other non-communicable diseases over their lifetimes.”

Cancer Prevention Recommendations

Lynch syndrome prediction model

The PREMM₅ model is a clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. Mutations in these genes cause Lynch syndrome, an inherited cancer predisposition syndrome.

N.B.:This website is provided for informational purposes only. The content is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your doctor or other qualified health provider with any questions you may have regarding your personal health or medical condition.

https://premm.dfci.harvard.edu

Priorities for Research in Psycho oncology

“We are hosting a workshop to identify priorities for research in #psychooncology across Ireland. This will ensure our research is responsive to the needs and priorities of the Irish cancer community.”

Let us know what you think. https://nuigalwaybusiness.fra1.qualtrics.com/…/SV…

Prepping for a Colonoscopy: Tips from The Colonoscopy Queen

“I have had more colonoscopies at Mayo Clinic than I can count — they are not a big deal. One of the most significant issues I hear people complain about is the liquid prep, which cleans out your colon.”

I’ve had many colonoscopies over the last two decades, so here are my tips for preparing for and going through the procedure.

https://www.curetoday.com/view/prepping-for-a-colonoscopy-tips-from-the-colonoscopy-queen