Scientific Program


START END Wednesday, September 14, 2022
13:00 13:15 Welcome and Announcements
Matthew Kalady, MD
13:15 14:00 Session 1: Lynch Syndrome
13:15 13:30 Introduction
Tribute to Henry Lynch/ Introduction to Henry Lynch Lecture
Richard Boland, MD
13:30 14:00 Henry Lynch Lecture: Lynch Syndrome Vaccines
Steven M. Lipkin, MD, PhD
14:00 15:30 Abstracts Presentations
Moderators: Ian Frayling, MD, PhD, Michael Hall, MD

The immune profile of normal colonic mucosa as a possible tumor risk modifier in Lynch syndrome, Lena Bohaumilitzky, Germany
Molecular carcinogenesis pathway of MLH1-associated Lynch syndrome colorectal cancer unraveled: “two-in-one hit” model, Aysel Ahadova, Germany
Mutation rate evolution drives immune escape in mismatch repair-deficient cancer, Marnix Jansen, United Kingdom
Co-evolution of mismatch repair loss and the immune response in Lynch Syndrome, Ottilie D Swinyard, United Kingdom
Lynch syndrome-associated epithelial ovarian cancer and its immunological profile, Maria Rasmussen, Denmark
Immunogenicity and HLA binding affinity of Lynch Syndrome associated frameshift peptide neoantigens, Alejandro Hernandez Sanchez, Germany
The INDICATE initiative: Is HLA Type a modulator of tumor risk in Lynch syndrome? Matthias Kloor, Germany
MSI-H and MSI-L mark opposite ends of the tetranucleotide repeat instability phenotype spectrum, Maija R J Kohonen Corish, Australia
Genome-wide DNA methylation and somatic mutational landscape resolve the molecular causality of MLH1-deficient colorectal cancer and designate MLH1 epimutation carriers, Jihoon E Joo, Australia
An evaluation of RMH Diagnostic pathways for CRC testing considering the introduction of the NHS National Genomic Test Directory and the potential benefit of immunotherapy in a subset of MMR-d, MSI CRC patients, Andrew George, United Kingdom
15:30 15:45 Invited Lecture
Non-Polyp Routes to Cancer
Magnus von Knebel Doeberitz, MD
15:45 16:15 BREAK
16:15 17:30 Session 2: Global Issues 
16:15 17:30 Global Issues in Hereditary GI Cancer Syndromes Panel
Moderator: James Church, MD
Panelists: Luiz Lobato, MD, PhD; Swati Patel, MD; Joanne Ngeow, MD; Susan Parry, MD, PhD; Marco Vitellaro, MD; Achille Manirakiza, MD
17:30 18:00 Ajournment
18:00   Welcome Reception


START END Thursday, September 15, 2022
08:00 08:40 Session 3: Polyposis
08:00 08:10 Session dedicated to Dennis Ahnen
Swati Patel, MD
08:10 08:15 Introduction to Sir Ian Todd Lecture
Laura Valle, MD, PhD
08:15 08:40 Sir Ian Todd Lecture: 30 years after the discovery of APC
Stefan Aretz, MD, PhD
08:40 09:45 Abstracts Presentations
Moderators: Evelien Dekker, Phd; Patrick Lynch, MD

Patient-derived 3D-Spheroid Cultures: A Novel Approach to in vitro Study of Familial Adenomatous Polyposis, Alicia Adams, United States
Pyrvinium Inhibits Familial Adenomatous Polyposis Patient-derived 3D Adenoma Organoids, Rami James Aoun, United States
{APC} mosaicism is a relevant explanation in (mild) polyposis phenotypes and testing reveals interesting cases such as >1 mosaic cases in a family, Diantha Terlouw, Netherlands
Microbiome Profiling in Patients with Adenomatous Polyposis Compared to sporadic Subjects, Revital Kariv, Israel
Preventive Anti-inflammatory Diet to Reduce Gastrointestinal Inflammation in Familial Adenomatous Polyposis Patients: A Prospective Pilot Study, Patrizia Pasanisi, Italy
The opinions of adolescents and young people with familial adenomatous polyposis about timing of surgery: a service evaluation, Jacqueline M Hawkins, United Kingdom
Superior Rectal Artery sparing in total colectomies with ileorectal anastomosis to reduce anastomotic leakage in patients with Familial Polyposis, Marco Vitellaro, Italy
Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study, Marco Vitellaro, Italy
09:45 10:00 Gastric Cancer in FAP
Sonia Kupfer, MD
10:00 10:15 Problematic Polyposes
Bryson Katona, MD, PhD
10:15 10:45 BREAK
10:45 11:30 Session 4: Polyposis Management
10:45 11:30 Panel
Clinical Management of Polyposis (timing surgery of FAP/AFAP/MAP; management of pouch and ATZ; management of rectal polyps after IRA; management of gastric and duodenal polyps)
Moderator: Susan Parry, MD, PhD; Jose Guillem, MD
Speaker and Panelist: David Liska, MD; Paul Wise, MD; Fay Kastrinos, MD, MPH; Ann-Sofie Backman, MD
11:30 12:15 Abstracts Presentations
Moderators: Aimee Lucas, MD; Allan Spigelman, MD

Evaluation of novel approaches to support variant classification in DNA mismatch repair genes, Romy Walker, Australia
A fully calibrated and validated {in vitro} functional assay for the diagnosis of Variants of Uncertain Significance in Lynch syndrome, Emily Rayner, Netherlands
Providing More Answers for Patients with Supplemental RNA Analysis of Colorectal Cancer Associated Genes, Daniel E Pineda Alvarez, United States
Mismatch Repair variant classification with ACMG/AMP criteria and comparison with Bayesian probability framework, Finlay Macre, Australia
{APC}-specific ACMG/AMP variant classification guideline alleviates the burden of variants of uncertain significance in ClinVar and locus-specific databases, Stefan Aretz, Germany
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence, Stefan Aretz, Germany
Assessment of the ability of the polygenic background to refine colorectal cancer risk in Lynch syndrome, Joan Brunet, Spain
12:15 13:40 LUNCH
13:40 14:15 Session 5: Extra Intestinal FAP
13:40 13:45 Introduction to the Jagelman / Church Lecture
David Liska, MD
13:45 14:15 Named Lecture
Jagelman / Church Lecture: Desmoid Tumours
Matthew Kalady, MD
14:15 15:00 Abstracts Presentations
Polyposis Plenary Abstracts
Moderators: Susan Clark, MD, PhD; Finlay Macrae, MD, PhD

Risk of malignant and benign thyroid disease in patients with familial adenomatous polyposis – a prospective surveillance study, Robert Hüneburg, Germany
Outcomes following duodenectomy in patients with familial adenomatous polyposis, Isabel Martin, United Kingdom
Development of ileal adenomas after ileal pouch-anal anastomosis versus end ileostomy in patients with familial adenomatous polyposis, Arthur S. Aelvoet, Netherlands
Defining the risk of desmoid disease in a high risk familial adenomatous polyposis (FAP) cohort, Andrew Latchford, United Kingdom
Intestinal Transplant for Desmoid Disease in FAP: A Single Institution Experience, Nicholas Smith, United States
15:00 15:45 Case Presentation
Polyposis Case Presentation
Moderators: Sue Clark, MD; Finlay Macrae, MD, PhD
Panelists: Mohammad Ali Abbass, MD; Lior Katz, MD; Gregory Idos, MD
15:45 16:00 BREAK
16:00 16:30 Session 6: Other Polypses
16:00 16:15 New CRC Polyposis Syndromes
Richarda De Voer, MD, PhD
16:15 16:30 Serrated Polyposis: Updates and Management
Elena M. Stoffel, MD
16:30 17:30 Abstracts Presentations
Non-FAP Polyposis Session and Abstracts
Moderators: Steven Erdman, MD; Brandie Leach, MS, LGC

Characterizing POLE and POLD1 germline and somatic aetiology in colorectal cancers demonstrating the defective DNA polymerase proofreading-related SBS10 tumour mutational signatures, Khalid Mahmood, Australia
Identifying colorectal cancer caused by biallelic {MUTYH} pathogenic variants using tumor mutational signatures, Peter Georgeson, Australia
Expanding the phenotype of NTHL1 tumor syndrome: results from a commercial laboratory, Daniel E Pineda Alvarez, United States
Surveillance outcomes in Hereditary Mixed Polyposis Syndrome, Sari Lieberman, Israel
Colorectal cancer risk and surveillance yield in patients with PTEN Hamartoma Tumour Syndrome (PHTS, Cowden syndrome), Nicoline Hoogerbrugge, Netherlands
Results of in international survey of breast cancer in Peutz-Jeghers syndrome, Andrew Latchford, United Kingdom
17:30 17:45 ESPGHAN Working Groups on JPS
Carol A. Durno, MD
17:45 18:00 Sirolimus in PTEN Study
Peter Stanich, MD
18:00 18:30 Ajournment
18:30 19:30 Poster Reception with Authors
19:30 20:00 Ajournment
20:00   Council Dinner
START END Friday, September 16, 2022
08:00 08:25 Session 7: Lynch Syndrome
08:00 08:05 Introduction to Meera Khan Lecture
Aung Ko Win, PhD
08:05 08:25 Meera Khan Lecture: Mutation based management of Lynch syndrome
Toni Seppala, MD, PhD
08:25 09:20 Abstracts Presentations
Moderators: Andrew Latchford, MD, PhD, Brandie Leach

LynchRisk: a pedigree-based model for computing risks of Lynch syndrome and future cancer risks conditional on a family history of Lynch-associated cancers and clinical data, Alexandra Lefebvre, France
Prevalence of Lynch syndrome in a multi-ethnic Asian population, Joanne Ngeow, Singapore
Saturation-scale functional evidence supports clinical variant interpretation in Lynch Syndrome, Anthony Scott, United States
Characterization of Blood-Derived Exosomal hTERT mRNA as a Biomarker for Colon Cancer and Lynch Syndrome, Ido Laish, Israel
Cancer Prevention with Resistant Starch in Lynch syndrome patients in the CAPP2 Randomised Placebo Controlled Trial: planned 10-year follow-up, John Burn, United Kingdom
Genomic responses to aspirin in colonic organoids from diverse individuals with and without Lynch syndrome, Hina Usman, United States
Metachronous Colorectal Cancer Risk in Lynch syndrome: is Extensive Colectomy Necessary for all Carriers? Ellis Eikenboom, Netherlands
09:20 09:35 Update on CAPP3
09:35 09:50 Immunotherapy
Leah Biller, MD
09:50 10:15 BREAK
10:15 10:45 Session 8: Lynch Syndrome Testing
10:15 10:45 Debate Style Session:
What's the best path to identify Lynch syndrome in CRC patients? Universal germline testing vs somatic testing vs MSI/IHC
Moderator: Sigurdis (Sisi) Haraldsdottir, MD

Panelists: Heather Hampel, Zsofia Stadler, MD, Kevin Monahan, MD (TBC)
10:45 11:45 Abstracts Presentations
Moderators: Nicoline Hoogerbrugge, MD, PhD; Luigi Ricciardiello, MD

10-year Results from Universal Mismatch-Repair (dMMR) Diagnostics in Colorectal Cancer; experiences from Denmark, Jon Ambæk Durhuus, Denmark
Efficacy of routine microsatellite instability test in colorectal cancer for screening Lynch syndrome, Hong-min Ahn, South Korea
Using Structured Family History Data in the Electronic Health Record to Identify Primary Care Patients Eligible for Genetic Testing for Hereditary Gastrointestinal and Other Cancer Syndromes, Wendy Kohlmann, United States
Population-based study shows constitutional MLH1 methylation (“epimutation”) underlies a significant fraction of incident mismatch repair-deficient, MLH1-hypermethylated colorectal cancer aged up to 55 years, but not endometrial cancer, Megan P Hitchins, United States
DiagMMR, a novel carrier test validated for Lynch syndrome detection, Minttu Kansikas, Finland
A calibrated cell-based functional assay to aide classification of {MLH1} DNA mismatch repair gene variants, Abhijit Rath, United States
A collaborative multicenter approach for the classification of mismatch repair gene variants in Spain: results of a pilot study, Marta Pineda, Spain
11:45 12:15

Lynch Syndrome Case Presentations: Colon & Extra-colonic
Moderator: Paul Wise, MD

Panelists: Bryson Katona MD; Jill Genua, MD; Luis Lobato, MD, PhD; Kevin Monahan, MD; Maegan E. Roberts, MS, CGC

12:15 13:15 LUNCH
13:15 14:00 Session 9: Lynch Syndrome
13:15 14:00 Debate style session:
Screening intervals for Lynch syndrome
Moderator: James Church

Panelists: Luigi Ricciardiello, MD, Carol Burke, MD
14:00 15:00 Abstracts Presentations
Moderators: Allan Spigelman, MD, PhD; Ann-Sofie Backman, MD

Clinical description and first estimates of age-associated cancer risk and survival in the context of constitutional mismatch repair system deficiency (CMMRD syndrome): report from the European database of the European consortium C4CMMRD, Chrystelle Colas, France
The burden of microsatellite instability in the blood of constitutional mismatch repair deficiency syndrome is associated with patient genotype but not age of tumour onset, Richard Gallon, United Kingdom
Genetic Anticipation in MLH1-associated Lynch syndrome, Arti Sharma Pandey, United States
Endoscopic surveillance in Lynch syndrome, a prospective study of interval cancer and individual risk factors, Nigin Jamizadeh, Sweden
Real-time use of artificial intelligence in colorectal cancer surveillance of patients with Lynch syndrome – a randomized controlled trial, Robert Hüneburg, Germany
Risk-stratified FIT for urgent colonoscopy in Lynch Syndrome: A national clinical service throughout the COVID-19 pandemic, Kevin Monahan, United Kingdom
Fatalism and metaphor in Confucianism: a qualitative study of genetic testing barriers among FDRs of hereditary cancer patients from China, Xiaodan Wu, China
15:00 15:15 CMMRD
Uri Tabori, MD
15:15 15:30 Gene-Based Colorectal and Non-Colorectal Risk
Aung Ko Win, PhD
15:30 16:00 BREAK
16:00 16:50 Session 10: Early Onset Colorectal Cancer
16:00 16:10 Tribute to Tom Weber
Cindy Borassi
16:10 16:30 Summary Report from the Delphi Initiative Recommendations on EO-CRC (DIRECt)
Giulia Martina Cavestro, MD, PhD
16:30 16:50 EOCRC Clinical Features and Biomarkers
Frank Sinicrope, MD
16:50 17:20 Plenary Abstract Session on EOCRC
Moderators: Gabriel Capella, MD, PhD; Laura Valle, MD, PhD

Sex Disparities in Metabolic Transcriptomic Features Identify Novel Biomarkers of Early-Onset Colorectal Cancer, Jose Perea, Spain
Risk factors associated with young onset advanced neoplasia at baseline and on follow up colonoscopy, Carole Macaron, United States
Familial Component of Early-Onset Colorectal Cancer: An Opportunity for Prevention, Francesc Balaguer, Spain
17:20 18:00 Business Meeting
Council; Matthew Kalady, MD; Susan Clark, MD, PhD
18:00 19:00 Ajournment
19:00   Gala Event
START END Saturday, September 17, 2022 
08:00 08:30 Session 11: Upper Gut Hereditary Cancer Syndromes
08:00 08:15 Consortia updates in PDAC: CAPS & PRECEDE
Randall E Brand, MD & Diane Simeone, MD
08:15 08:30 Targeted therapies in PDAC
Kim Reiss-Binder, MD
08:30 09:30 Abstracts Presentations
Moderators: Matt Yurgelun, MD; Susan Parry, MD, PhD

Diagnostic Yield of Endoscopic Screening for Identification of Signet Ring Cell in Carriers of a Pathogenic Variant in CDH1: Single Center Experience, Margaret Omalley, United States
Endoscopic diagnosis of early signet ring cell cancer in Hereditary diffuse Gastric Cancer Syndrome patients: a 16-year longitudinal prospective study, Massimiliano Di Pietro, United Kingdom
First estimates of diffuse gastric cancer risks for carriers of {CTNNA1} germline pathogenic variants, Chrystelle Colas, France
Outcomes of universal genetic testing in diverse pancreatic ductal adenocarcinoma patients, Christine M Drogan, United States
Pancreatic Cancer Surveillance in {CDKN2A} Mutation Carriers: Yield and Outcomes of 20 Years Prospective Follow-up, Monique Van Leerdam, Netherlands
Surveillance Outcome and Genetic Findings in Pancreatic Cancer High-Risk Population, Guy Rosner, Israel
09:30 09:45 Updates on the Management of CDH1
Parry Guilford, MD, PhD
09:45 10:00 Introduction to Jeremy Jass Lecture
Michael Cruise, MD, PhD (TBC)
10:00 10:30 Jeremy Jass Lecture: Pathology of Hereditary Colorectal Cancer Syndromes
Wendy Frankel, MD
10:30 11:00 BREAK
11:00 12:30 Session 12: Future of the Field
11:00 12:30 Future of the Field Panel
Moderators: Ian Frayling, MD, PhD; Sir John Burn FRCP FRCPE FRCOG FRCPCH FMedSci

Taking action against risk modifiers of hereditary GI cancer syndromes
Daniel Buchanan, MD, PhD

Expanding professional educational opportunities
Kathleen Blazer, PhD

Approaches to population based screening for hereditary syndromes
William Foulkes, MD, PhD

Artificial intelligence in endoscopy
Peter Stanich, MD

Implementing genetic counselling extenders (chatbot)
Alanna Kulchak Rahm, PhD

Top 5 Research Knowledge Gaps
Ian Frayling, MD

12:30 12:45 Concluding Remarks
Matthew Kalady, MD