St Mark’s Genomics

🚨 Final Call: Abstract submissions for #InSiGHT2026 close TOMORROW – Sept 30!

Join the global conversation on hereditary GI tumours.
Submit now 👉 insight2026.org

Let your research drive progress.

#MedicalResearch #Genetics #GIcancer #AbstractSubmission

Final Call for Abstracts – Deadline Today!⏳

Don't miss your chance to be part of the #InSiGHT2026 Biennial Meeting in #Singapore! 🌏

🗓️ Submission Deadline: 30 September 2025
⏰ Time: Midnight (Singapore Time) / 6pm CET

Submit your abstract now! insight2026.org/abstract-sub...

#Genetics #GIcancer

Low Yield of Genetic Testing in Serrated Polyposis Syndrome - PubMed Genetic testing demonstrated a low diagnostic yield in this SPS cohort, suggesting undefined genetic risk or involvement of other pathophysiological factors. Therefore, genetic testing appears to have...

Genetic testing appears to have limited utility in SPS patients and may primarily identify those with an incidental diagnosis of Lynch syndrome

pubmed.ncbi.nlm.nih.gov/41002021/

Our results support universal and paired somatic and germline multi-gene panels for all EOCRC patients, regardless of MMR status or family history

onlinelibrary.wiley.com/doi/10.1002/...

Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa - Familial Cancer This study compares three hereditary colorectal cancer (CRC) registries—the Iranian Hereditary Colorectal Cancer Registry (IHCCR), the Singapore Polyposis Registry (SPR), and the University of Cape To...

The registries’ combined experiences underscore the critical need for integrated, culturally sensitive strategies combining genetic testing, enhanced surveillance, and family-based management to improve outcomes #Polyposis #LynchSyndrome

link.springer.com/article/10.1...

Come and work with us!
We are seeking a Regional #LynchSyndrome Nursing Lead band 8 for 12 months to provide teaching and training across North London #Genomics apps.trac.jobs/job-advert/7...

📢 Join us in Singapore for the InSiGHT Biennial Meeting,
4–7 March 2026!

🔹 Abstract Deadline: 20 Sept 2025
🔹 Early Bird: 10 Jan 2026

Link ➡️ insight2026.org

Let’s advance hereditary GI cancer research together!
#InSiGHT2026 #MedicalResearch #GItumours

Please follow @insight-org.bsky.social on BlueSky and join us for insight2026.org in Singapore, abstract submission now live!

👋 Welcome to InSiGHT on BlueSky!

We are a global community of researchers, clinicians, and scientists dedicated to advancing the understanding, diagnosis, and management of hereditary GI cancers. Follow us for updates on scientific advances, clinical guidelines, and upcoming events. #InSiGHT

Abstract submission is now open for #Insight2026 ! Deadline 7th September #LynchSyndrome #Polyposis #EOCRC @soniakupfer.bsky.social @swatipatelmd.bsky.social @cgaigc.com @stmarksgenomics.bsky.social @plsdatabase.bsky.social

insight2026.org

St Mark's Frontiers 2025 Register now for our Annual Frontiers in Colorectal and Intestinal Disease Congress, from the 19th–21st November 2025.

Join us 19-21 November for a bigger and better St Mark's Frontiers in Colorectal Disease Meeting, in a beautiful venue in King's Cross London!
Extremely good value, with hybrid options @stmarkshospital.bsky.social

sayso.health/events/front...

Great to meet up with Pam from Lynch Syndrome UK at BSG Live 2025 in Glasgow today! @thepoodoctor.bsky.social @lynchsyndromeuk.bsky.social @stmarksgenomics.bsky.social

In Our Scope of Practice: Genetic Risk Assessment and Testing for GI Cancers and Polyposis in Gastroenterology - @amergastroassn.bsky.social @soniakupfer.bsky.social www.gastrojournal.org/article/S001...

Attitudes towards faecal immunochemical testing (FIT) for risk-stratified colonoscopy in people with #Lynchsyndrome #FIT4Lynch @bmj.com

bmjopengastro.bmj.com/content/12/1...

Fabulous day today at our @britsocgastro.bsky.social organised #LynchSyndrome event at #RCPLondon sold out, fabulous talks, interactive sessions and audience of clinicians who want to do their best for people with Lynch syndrome #BCSP @nhsmillion.bsky.social @rcphysicians.bsky.social

We are very excited about our @britsocgastro.bsky.social #LynchSyndrome event @rcphysicians.bsky.social next Wednesday… sold out but let me know if you want a place

One hundred years of the St Mark’s hospital polyposis registry - Familial Cancer The St Mark’s Hospital Polyposis Registry was founded in 1924, the first such unit in the world. This paper documents the development of the unit over the subsequent 100 years, which was inextricably ...

One hundred years of the St Mark’s hospital polyposis registry @stmarksgenomics.bsky.social @lnwh.bsky.social
link.springer.com/article/10.1...

Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation - PubMed Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR-deficiency can be caused by Lynch syndrome, resulting from germline pathogeni...

What causes dMMR sebaceous neoplasia?

pubmed.ncbi.nlm.nih.gov/40208414/

Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease - Familial Cancer Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally. These recommendations reflect the diverse needs and capabiliti...

Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease

link.springer.com/article/10.1...

We had our third meeting this week of the UK Early onset colorectal cancer research consortium this week, designed to develop research projects in #EOCRC, supported by amazing patients and @bowelcanceruk.bsky.social #BSG @stmarksgenomics.bsky.social @imperialcollegeldn.bsky.social

New national genomics resources in Gastroenterology and Hepatology The National Genomics Education Programme have launched #GeNotes collection specifically for #Genomics cases in your practice. It is packed with educational scenarios written by experts in your field,...

The National Genomics Education Programme have launched #GeNotes collection specifically for #Genomics cases in your practice @britsocgastro.bsky.social www.bsg.org.uk/news/new-nat...

Please join us on Lynch syndrome awareness Day 22nd March.

Join @pennmedicine.bsky.social for the Lynch Syndrome Symposium on 3/17! Learn more & register➡️ www.med.upenn.edu/lynchsyndrom...

Saturation mapping of MUTYH variant effects using DNA repair reporters Variants of uncertain significance (VUS) limit the actionability of genetic testing. A prominent example is MUTYH, a base excision repair factor associated with polyposis and colorectal cancer, which ...

New preprint! Led by postdoc Shelby Hemker, we systematically test the function of every possible coding mutation in MUTYH, a colorectal cancer risk gene with a high pathogenic carrier rate (~1:50 in some ancestry groups). #VUS #VariantInterpretation
www.biorxiv.org/content/10.1...
1/5

This event is sold out but there is a waiting list… see the BSG email in the link

Current research studies in #LynchSyndrome at @stmarksgenomics.bsky.social thanks to @trevorgraham.bsky.social and other collaborators

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting - Familial Cancer There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, designed to mitigate increased heritable colorectal cancer (CRC) susceptibility...

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting

link.springer.com/article/10.1...

Closing date tomorrow! Join our incredible team - We are a really supportive group, lots of opportunities for learning and such a fantastic role providing lifelong care to our very special patient group #LynchSyndrome #FAP #Genomics #PolyposisSyndromes #Nursing

www.jobs.nhs.uk/candidate/jo...

Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals with Colorectal Cancer and the Impact on At-Risk Relatives Universal screening for Lynch Syndrome (LS) is recommended for all patients diagnosed with colorectal cancer (CRC). A benefit of LS screening in CRC i…

Cost-Effectiveness of #LynchSyndrome Identification Strategies in Individuals with Colorectal Cancer and the Impact on At-Risk Relatives

www.sciencedirect.com/science/arti...

Closing date tomorrow! Join our incredible team - We are a really supportive group, lots of opportunities for learning and such a fantastic role providing lifelong care to our very special patient group #LynchSyndrome #FAP #Genomics #PolyposisSyndromes #Nursing

www.jobs.nhs.uk/candidate/jo...