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St Mark’s Genomics

@stmarksgenomics.bsky.social
90 followers 96 following 6 posts

The St Mark’s Hospital Centre for Familial Intestinal Cancer, with Lynch Syndrome and Family Cancer Clinic & the Polyposis Registry www.stmarkshospital.nhs.uk/services…

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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 05/03/2026
Our Young InSiGHT members are off to a strong start of #InSiGHT2026! Day 1 - Padel session full of energy & teamwork Day 2 - Breakfast session with great conversations & new connections And this is only the beginning! We can't wait to see this #InSiGHTCommunity grow 🌟 #GIcancer #YoungInSiGHT
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 07/03/2026
That’s a wrap on #InSiGHT2026! A huge thank you to our scientific committee, organisers, speakers, participants, sponsors & partners for driving an incredible exchange of ideas. Your commitment to advancing research and care in hereditary GI cancer makes all the difference. 🌟 #InSiGHTcommunity
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Kevin Monahan @kevinmonahan.bsky.social · 26/02/2026
Improving care for Lynch syndrome patients: integrating surveillance into England’s national bowel cancer screening programme link.springer.com/article/10.1...
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 25/11/2025
We’re proud to present the current Council members of The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), driving progress in research, collaboration, and patient care worldwide. Learn more about us👉 shorturl.at/6cyJV #Genetics #GIHealth #HereditaryGICancer #InSiGHT
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Kevin Monahan @kevinmonahan.bsky.social · 12/01/2026
Outcomes from the English National #LynchSyndrome transformation project: New diagnoses of LS have consistently increased each year from a total of 545 in 2020 to a total of 1394 in 2024 (an increase of 255% vs. a target of >50%). onlinelibrary.wiley.com/doi/10.1002/...
onlinelibrary.wiley.com
Outcomes from the English National Lynch Syndrome transformation project
The elevated cancer risk conferred by Lynch syndrome can be mitigated through preventive interventions. However, Lynch syndrome often goes underdiagnosed. The National Lynch Syndrome Transformation P...
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Kevin Monahan @kevinmonahan.bsky.social · 05/02/2026
COLO-REACH UK = the new name for the EOCRC Research Consortium (REsearch in Early Age Colorectal cancer Hub) supporting collaboration between UK clinical academics and patients in research of bowel cancer in people below age 50 years @bowelcanceruk.bsky.social
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Kevin Monahan @kevinmonahan.bsky.social · 27/11/2025
Diagnostic yield of colonoscopy in Lynch Syndrome We demonstrate a high adenoma burden with distinct phenotypic and gene-specific characteristics in a UK LS population undergoing high quality surveillance fg.bmj.com/content/earl...
fg.bmj.com
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Trevor Graham @trevorgraham.bsky.social · 17/11/2025
@kevinmonahan.bsky.social & I have an open clinical #PhD position between @stmarkshospital.bsky.social and @icr.ac.uk If you're interested in the biology of pre-cancer in the bowel & want to translate biology for cancer prevention this one could be for you... funded by the brilliant #40tude
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Kevin Monahan @kevinmonahan.bsky.social · 12/11/2025
We had the 3rd meeting of the UK EOCRC Research Consortium in beautiful Edinburgh yesterday supported by British Society of Gastroenterology (BSG) and @bowelcanceruk.bsky.social attended by over 50 UK academics - celebrating our first project funding success only 1 year after foundation
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Kevin Monahan @kevinmonahan.bsky.social · 16/11/2025
We are looking for our new Tom Smith Clinical Research Fellow in #LynchSyndrome and Early Onset ColorectalCancer with @trevorgraham.bsky.social in translational science … thanks to 40tude curing colon cancer for supporting this fellowship - get in touch! @stmarksgenomics.bsky.social @icr.ac.uk
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St Mark’s Hospital and Academic Institute @stmarkshospital.bsky.social · 03/10/2025
Can we prevent IBD? We are delighted to have Prof. Johan Burisch as one of our visiting professors for this years Frontiers congress 🙌🏻 Hear more about Prof. Burisch in the video below ⬇️ Register now - bit.ly/4ktsvDc @lnwh.bsky.social @kevinmonahan.bsky.social
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St Mark’s Hospital and Academic Institute @stmarkshospital.bsky.social · 17/10/2025
And they’re off! 🏁 👟 Elaine Burns🚶‍♀️Vs Danilo Miskovic 🏃 Our colon cancer workshop is on day 2 of ‘Frontiers’ - run or walk with our experts 🌟 (Must watch video below 👇🏻😜) Sign up to be in with a chance to participate - bit.ly/4ktsvDc @lnwh.bsky.social @kevinmonahan.bsky.social
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Kevin Monahan @kevinmonahan.bsky.social · 23/10/2025
Low Yield of Genetic Testing in Serrated Polyposis Syndrome journals.lww.com/ctg/fulltext...
journals.lww.com
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 29/09/2025
🚨 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
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 30/09/2025
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
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Kevin Monahan @kevinmonahan.bsky.social · 27/09/2025
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/
pubmed.ncbi.nlm.nih.gov
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...
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Kevin Monahan @kevinmonahan.bsky.social · 27/09/2025
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/...
onlinelibrary.wiley.com
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Kevin Monahan @kevinmonahan.bsky.social · 06/09/2025
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...
link.springer.com
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...
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Kevin Monahan @kevinmonahan.bsky.social · 11/08/2025
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...
apps.trac.jobs
Regional Lynch Syndrome Nursing Lead | Job advert | Trac
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 08/08/2025
📢 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
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Kevin Monahan @kevinmonahan.bsky.social · 21/07/2025
Please follow @insight-org.bsky.social on BlueSky and join us for insight2026.org in Singapore, abstract submission now live!
insight2026.org
InSiGHT 2026
Register Now Submit AbstractSubmit your abstracts by 20 September 2025.For Inquiries: Please feel free to email us directly:info@insight2026.orgregistration@insight2026.orgabstract@insight2026.orgGol...
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International Society for Gastrointestinal Hereditary Tumours @insight-org.bsky.social · 21/07/2025
👋 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
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Kevin Monahan @kevinmonahan.bsky.social · 13/07/2025
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
insight2026.org
InSIGHT 2026
REGISTRATION NOW OPEN Register NowCall for Abstracts Now Open! Submit Your AbstractWelcome MessageWelcome to Singapore, Selamat Datang, 欢迎, வருக வருக. On behalf of InSiGHT, we are delighted to invite....
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Kevin Monahan @kevinmonahan.bsky.social · 01/07/2025
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...
sayso.health
St Mark's Frontiers 2025
Register now for our Annual Frontiers in Colorectal and Intestinal Disease Congress, from the 19th–21st November 2025.
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Kevin Monahan @kevinmonahan.bsky.social · 24/06/2025
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
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Kevin Monahan @kevinmonahan.bsky.social · 08/06/2025
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...
gastrojournal.org
In Our Scope of Practice: Genetic Risk Assessment and Testing for GI Cancers and Polyposis in Gastroenterology
Gastrointestinal (GI) clinicians are a critical touchpoint for individuals at risk for genetic and familial syndromes that increase risk of colorectal, gastric and pancreatic cancer. While advances in...
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Kevin Monahan @kevinmonahan.bsky.social · 20/05/2025
Attitudes towards faecal immunochemical testing (FIT) for risk-stratified colonoscopy in people with #Lynchsyndrome #FIT4Lynch @bmj.com bmjopengastro.bmj.com/content/12/1...
bmjopengastro.bmj.com
Evaluation of user experiences, perceptions and attitudes towards faecal immunochemical testing (FIT) for risk-stratified colonoscopy in people with Lynch syndrome
Objective This study evaluates the experiences, perceptions, and attitudes of people with Lynch syndrome (LS) towards faecal immunochemical testing (FIT) as an adjunct to colonoscopy for colorectal ca...
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Kevin Monahan @kevinmonahan.bsky.social · 14/05/2025
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
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Kevin Monahan @kevinmonahan.bsky.social · 09/05/2025
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
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Kevin Monahan @kevinmonahan.bsky.social · 26/04/2025
One hundred years of the St Mark’s hospital polyposis registry @stmarksgenomics.bsky.social @lnwh.bsky.social link.springer.com/article/10.1...
link.springer.com
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 ...
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St Mark’s Genomics @stmarksgenomics.bsky.social · 11/04/2025
What causes dMMR sebaceous neoplasia? pubmed.ncbi.nlm.nih.gov/40208414/
pubmed.ncbi.nlm.nih.gov
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...
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Kevin Monahan @kevinmonahan.bsky.social · 07/04/2025
Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease link.springer.com/article/10.1...
link.springer.com
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...
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Kevin Monahan @kevinmonahan.bsky.social · 04/04/2025
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
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Kevin Monahan @kevinmonahan.bsky.social · 19/03/2025
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...
bsg.org.uk
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,...
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Lynch Syndrome Ireland @lsireland.bsky.social · 11/03/2025
Please join us on Lynch syndrome awareness Day 22nd March.
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
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
biorxiv.org
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 ...
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Kevin Monahan @kevinmonahan.bsky.social · 15/03/2025
This event is sold out but there is a waiting list… see the BSG email in the link
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St Mark’s Genomics @stmarksgenomics.bsky.social · 06/03/2025
Current research studies in #LynchSyndrome at @stmarksgenomics.bsky.social thanks to @trevorgraham.bsky.social and other collaborators
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Kevin Monahan @kevinmonahan.bsky.social · 06/03/2025
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting link.springer.com/article/10.1...
link.springer.com
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...
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St Mark’s Genomics @stmarksgenomics.bsky.social · 04/03/2025
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...
jobs.nhs.uk
Job Advert
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St Mark’s Genomics @stmarksgenomics.bsky.social · 05/03/2025
Cost-Effectiveness of #LynchSyndrome Identification Strategies in Individuals with Colorectal Cancer and the Impact on At-Risk Relatives www.sciencedirect.com/science/arti...
sciencedirect.com
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…
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St Mark’s Genomics @stmarksgenomics.bsky.social · 04/03/2025
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...
jobs.nhs.uk
Job Advert
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St Mark’s Genomics @stmarksgenomics.bsky.social · 03/03/2025
Ionizing Radiation May Induce Tumors Partly Through the Alteration or Regulation of Mismatch Repair Genes pubmed.ncbi.nlm.nih.gov/40002162/
pubmed.ncbi.nlm.nih.gov
Ionizing Radiation May Induce Tumors Partly Through the Alteration or Regulation of Mismatch Repair Genes - PubMed
Ionizing radiation is mutagenic and carcinogenic, and it is reported to induce primary and secondary tumors with intestinal tumors being one of the most commonly observed. However, the pathological an...
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Kevin Monahan @kevinmonahan.bsky.social · 22/01/2025
Thank you to our #StMarksHospital familial colorectal cancer clinical research fellows #LynchSyndrome #40tude @stmarksgenomics.bsky.social @pebsedwards.bsky.social @thepoodoctor.bsky.social @lynchsyndromeuk.bsky.social @imperialsandc.bsky.social
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Kevin Monahan @kevinmonahan.bsky.social · 28/02/2025
It’s an honour to launch Gastroenterology and Hepatology Genomics Resources’GeNotes’ published today by the Genomics Education Programme, designed for clinicians who are increasingly implementing genomics in their routine clinical practice www.genomicseducation.hee.nhs.uk/news/new-in-...
genomicseducation.hee.nhs.uk
New in GeNotes: Gastro-Hepatology - Genomics Education Programme
A new collection of genomics resources for gastroenterologists and hepatologists is now available, expanding Genomics Education Programme’s flagship resource to 10 specialty areas
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St Mark’s Genomics @stmarksgenomics.bsky.social · 20/12/2024
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults pubmed.ncbi.nlm.nih.gov/39701117/
pubmed.ncbi.nlm.nih.gov
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study - PubMed
The Canadian Institutes for Health Research, Stand Up to Cancer-Bristol Myers Squibb Catalyst, US National Institutes of Health, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Rese...
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Kevin Monahan @kevinmonahan.bsky.social · 20/12/2024
Save the Date! #LynchSyndrome and Hereditary Colorectal Cancer for Colorectal MDT, BCSP and Beyond: a course for clinicians ⁦‪@BritSocGastro‬⁩ in London on 14th May 2025 ⁦‬⁩ ⁦‪@frankbalaguer‬⁩ ⁦‪@NorikoSuzuki3‬⁩ ⁦‪@McVeighTerri‬⁩ www.bsg.org.uk/Events/Lynch...
bsg.org.uk
Royal College of Physicians, 11 St Andrews Pl, London, NW1 4LE
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St Mark’s Genomics @stmarksgenomics.bsky.social · 20/12/2024
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults pubmed.ncbi.nlm.nih.gov/39701117/
pubmed.ncbi.nlm.nih.gov
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study - PubMed
The Canadian Institutes for Health Research, Stand Up to Cancer-Bristol Myers Squibb Catalyst, US National Institutes of Health, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Rese...
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Kevin Monahan @kevinmonahan.bsky.social · 28/11/2024
Bowel Cancer Screening Teams and Cancer MDTs! What do you want to know more about when it comes to #LynchSyndrome ? Help us create the agenda for a national meeting 14th May 2025 @BritSocGastro @nhsengland.bsky.social @stmarksgenomics.bsky.social @acpgbi.bsky.social
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