June 19-22, 2024
10th Biennial Meeting of the International Society for Gastrointestinal Hereditary Tumours
AXA Convention Center
Avinguda Diagonal, 547, Barcelona, Spain
The official INSIGHT2024 Congress App is now available for download.
All updated information of our Congress in a single app!
Welcome
Dear Colleagues, Dear Friends,
On behalf of the Board of Directors and the Program Committee it is a great pleasure to invite you to the 2024 Insight Biennial Conference to be held in Barcelona at 19th-22nd June 2024.
This conference, which focusses on the worldwide improvement of care of patients and families with any hereditary condition resulting in gastrointestinal tumors, is a great opportunity and challenge. We aim to make this a great scientific meeting that attracts clinical and research experts in the field, including PhD students and other early career scientists and physicians.
The Program Committee has been working hard to put together a vibrant and comprehensive program for the meeting securing the participation of internationally acknowledged invited experts to address hot topics on key areas in Fundamental, Translational and Clinical Science in sessions with invited speakers and the best peer-reviewed abstracts as oral communications. Workshops will allow lively debating. We will also have the opportunity to listen the voice of patients critical to adequately design our care and our research.
Selected topics include among others: Mutational signatures and somatic evolution in normal tissue; the use of artificial intelligence (AI) in Digital pathology and Endoscopies; and monogenetic defects and Polygenic Risk Scores. Regarding clinical science we will be addressing surgical challenges as well as controversies in surveillance and testing in pediatric and adult settings. Issues on colorectal, gynecological, gastric and biliopancreatic neoplasms will also be discussed. Also chemoprevention, vaccines and lifestyle modification will be tackled. Finally, we have joined forces with the European Society of Gastrointestinal Endoscopy to organize a pre-meeting educational event.
A scientific congress is not just a series of lectures or debates delivered from a podium. There is the social interaction, meeting old friends and making new acquaintances which may turn to become lifelong, discussing a project over a coffee, inviting colleagues to spend time in our unit. Especially for trainees, a congress represents the unique opportunity to meet renowned professionals and establish connections that can lead to new professional opportunities. In this regard, we have done our best to promote the active participation of the young people hoping to help providing effective enduring mentorship to the next generation of physicians, health professionals and scientists.
As Chairpersons of Insight we are very happy and honored to welcome all of you in Barcelona
next June to share and learn the most up to date evidence in our specialty and to enjoy networking with your friends and colleagues.
Kind regards, also on behalf of the InSiGHT Scientific Committee,
CONFERENCE DIRECTORS
CORE SCIENTIFIC COMMITTEE
Prof. dr. Nicoline Hoogerbrugge
MD, PhD, internist-cancer geneticist. Radboud university medical center, Nijmegen, Netherlands
Dr. Gabriel Capellá
MD, PhD, Catalan Institute of Oncology- IDIBELL, cancer geneticist, L’Hospitalet de Llobregat, Spain
Dr. Francesc Balaguer
MD, PhD, gastoenterologist. Hospital Clinic, Barcelona, Spain
Prof. dr. Marjolijn Ligtenberg
PhD, molecular geneticist. Radboud university medical center, Nijmegen, Netherlands
Chairs:
Nicoline Hoogerbrugge, Radboud university medical center, Nijmegen, The Netherlands
Gabriel Capellá, Catalan Institute of Oncology (ICO) & Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
Francesc Balaguer, Hospital Clínic Barcelona, Spain
Brandie Leach, Hereditary Cancer Medical Affairs, Exact Sciences, Cleveland, Ohio, USA
Toni T. Seppälä, Tampere University Hospital, Tampere University and TAYS Cancer Centre, Finland
Dr. Judith Balmaña, Vall d’Hebron, Institute of Oncology (VHIO), Barcelona, Spain
• History in InSiGHT, transition to InSiGHT ClinGen Expert Panel
• New MMR-Specific ACMG rules
• Future
• Process
• New MUTYH-Specific Classification Rules
• Pilot Study
• Future
• Process
• HHT-Polyposis Joint effort
• Future
Chairs:
Ian Gralnek, Institute of Gastroenterology and Hepatology Emek Medical Center, Afula, Israel
Thomas Seufferlein, Ulm University, Germany
Chairs:
Ian Gralnek, Institute of Gastroenterology and Hepatology Emek Medical Center, Afula, Israel
Francesc Balaguer, Hospital Clinic, Barcelona, Spain
• Surveillance of the colon in Lynch Syndrome: Tips and tricks
María Pellisé, , Hospital Clinic, Barcelona, Spain
• Surveillance of the pouch/rectum in FAP: Tips and tricks
Andrew Latchford, St Mark’s Hospital, London North West University
Healthcare NHS Trust, London, United Kingdom
• Management of SPS: How to diagnose and treat SSLs
Evelien Dekker, Amsterdam University Medical Centers, The Netherlands
Chairs:
Maria Pellisé, Hospital Clinic, Barcelona, Spain
Andrew Latchford, St Mark’s Hospital, London North West University Healthcare
NHS Trust, London, United Kingdom
• Prevention of gastric cancer: Tips and tricks for a high-quality upper GI endoscopy
Mario Dinis Ribeiro, Instituto Português de Oncologia, Porto, Portugal
• Prevention of gastric cancer in FAP
Arthur Aelvoet, ANIOS MDL, Amsterdam, The Netherlands
• Managing CDH1/CTNNA1B patients
Tanya Bisseling, Radboud university medical center,
Nijmegen, The Netherlands
Chairs:
Evelien Dekker, Amsterdam University Medical Centers, The Netherlands
Tanya Bisseling, Radboud university medical center, Nijmegen, The Netherlands
• How to deal with intestinal polyps in Peutz Jeghers?
Begoña González, Hospital Clínic, Barcelona, Spain
• Management of duodenal polyposis in FAP
John Gasdal Karstensen, University of Copenhagen, Denmark
Chairs:
Thomas Seufferlein, Ulm University, Germany
• Immunotherapy
in colorectal cancer
Eric van Cutsem, University Hospital Gasthuisberg/Leuven, Belgium
• Immunotherpay in upper GI cancer
Thomas Seufferlein, Ulm University, Germany
Nicoline Hoogerbrugge, Radboud university medical center,
Nijmegen, The Netherlands
Gabriel Capellá, Catalan Institute of Oncology (ICO) & Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
Chella van der Post, Radboud university medical center, Nijmegen, Netherlands
Maria Pellisé, Hospital Clinic Barcelona, Spain
Robert Hüneburg, Bonn University Hospital, Bonn, Germany
Francesco Ciompi, Radboud university medical center, Nijmegen, The Netherlands
Stefan Aretz, University of Bonn Medical Center, Bonn, Germany
Judith Balmaña, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
14:55 - 15:05
Predictors of invasive signet ring cell carcinoma in CDH1 carriers – results from the multicenter Study of CDH1 Outcomes & Surveillance
Ophir Gilad, University of Chicago, Illinois, United States
15:05 - 15:15
Familial serrated polyposis syndrome in the genetics of colonic polyposis study
Daniel Buckmann, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, Victoria, Australia
15:15 - 15:25
Machine learning-based endoscopic classificatio+A5:E5n for superficial mucosal lesions in hereditary diffuse gastric cancer
Leanne Wu, Cambridge University, United Kingdom
15:25 - 15:35
Testing colonic ganglioneuromas as a clue to the diagnosis
of PTEN hamartoma tumor syndrome
Chella Van der Post, Radboud university medical center, Nijmegen, The Netherlands
15:35 - 15:45
Can genomic features of pre-malignant adenomas be used
to identify biallelic MUTYH and NTHL1 carriers?
Romy Walker, University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Melbourne, Australia
15:45 - 15:55
Multicentre approach to improve the identification
and management of CMMRD patients in Spain
Fátima Marín, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
Marta Pineda, Catalan Institute of Oncology (ICO) & - Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
Verena Steinke, München Ludwig-Maximilians-Universität, Germany
Annemarie Boleij, Radboud University Medical Centre, Nijmegen, The Netherlands
16:20 - 16:30
HLA Type as a possible modulator of cancer risk in Lynch syndrome: first data from the INDICATE Network
Aysel Ahadova, University Hospital Heidelberg, Germany
16:30 - 16:40
A faecal microbial signature to optimise colorectal cancer surveillance in Lynch syndrome
Sandra Taboada-López, GoodGut SL, Girona, Spain
16:40 - 16:50
Germline results following comprehensive genomic tumour sequencing of 1070 gynaecological cancers
Arianna Panfili, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
16:50 - 17:00
IL-17A-Producing NKp44(-)ILC3s may promote duodenal adenoma formation in familial adenomatous polyposis
Jacob Nattermann, University Hospital Bonn, Germany
17:00 - 17:10
Characterization of the mutational landscape of colorectal tumors from individuals with adenomatous or serrated polyposis
Anna Sommer, University Hospital Bonn, Germany
17:10 - 17:20
Lynch syndrome-related neoantigens prediction and validation for a dendritic-cell based cancer prevention vaccine
Cristina Bayó Llorens, Hospital Clínic Barcelona, Spain
17:20 - 17:30
Profiling germline and somatic mutations in consecutive early onset colorectal cancer cases in a European population
Penelope Edwards, The Centre for Familial Intestinal Cancer, St Mark’s Hospital, London Northwest Healthcare Trust, United Kingdom
17:30 - 17:40
Prevalence of DNA mismatch repair (MMR) gene mosaicism and specific intronic pathogenic variants in people with MMR-deficient cancers
Romy Walker, University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Melbourne, Australia
17:40 - 17:50
Gastric epithelium and patient-derived gastric organoids from BRCA1/2 carriers harbor increased proliferation and DNA damage
Bryson Katona, University of Pennsylvania Perelman School of Medicine, PA, United States
Location: Conference Venue
Brandie Leach, Hereditary Cancer Medical Affairs, Exact Sciences, Cleveland, Ohio, United States
Ian Frayling, St Mark’s Hospital, London & St Vincent’s Hospital, Dublin
Marjolijn Ligtenberg, Radboud university medical center, Nijmegen, The Netherlands
Laura Valle, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
09:20 - 09:30
Establishing a deep mutational scan for MSH6 missense variant classification
Anthony Scott, University of Michigan, Ann Arbor, MI, United States
09:30 - 09:40
The immune profile of Lynch syndrome-associated colorectal adenomas pinpoints the main determinants of immune activation
Lena Bohaumilitzky, Institute of Pathology, University Hospital Heidelberg, Germany
09:40 - 09:50
Diagnostic challenges of MLH1 constitutional epimutations involved in Lynch syndrome
Julie Leclerc, Jeanne de Flandre Hospital, Lille University Hospital, France
09:50 - 09:53
The germline POLD1 c.1420C>A p.(Leu474Ile) variant segregates with endometrial cancer and colonic adenomas demonstrating hypermutation and defective POLD1 mutational signatures
Khalid Mahmood, The University of Melbourne, Parkville, Victoria, Australia
09:53 - 09:56
Adenomatous polyps of germline pathogenic PMS2 mutation carriers: preliminary epidemiological and histopathological report from the LYNCH-GPS study
Katarina Andini, University Medical Centre Groningen, The Netherlands
09:56 - 09:59
Diagnostic yield and characterization of endoscopic surveillance in CDH1 pathogenic variant carriers in spain
Joaquin Castillo, Hospital Clínic Barcelona, Spain
09:59 - 10:02
Mesalamine for colorectal cancer prevention program
in Lynch Syndrome (MesaCAPP)
Ann-Sofie Backman, Karolinska Institutet, Huddinge, Stockholm, Sweden
10:02 - 10:05
Birth cohort effect on age of colorectal cancer onset in Lynch syndrome
Ophir Gilad, University of Chicago, Illinois, United States
Maurizio Genuardi, University of Florence, Italy
Beneditto Rossi, Hospital Sirio Libanes, São Paulo, Brazil
Gene Koh, University of Cambridge, Cambridge, United Kingdom
Carla Oliveira, Ipatimup, Porto, Portugal
11:55 - 12:05
The exome-wide genomic profile of Lynch syndrome-related colorectal cancers differs by affected gene: implications for determining pathways of tumourigenesis
Peter Georgeson, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, Victoria, Australia
12:05 - 12:15
CaptureRNA-seq as a supplement to DNA germline testing to increase the diagnostic yield of hereditary tumor syndromes
Morghan Lucas, Medical Genetics Center, Munich, Germany, CA
12:15 - 12:25
Genomic features of post-colonoscopy colorectal cancers
in people with Lynch syndrome
Daniel Buckanan, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, Victoria, Australia
Sonia Kupfer, University of Chicago, Chicago, United States
Andrew Latchford, St Mark’s Hospital, London North West University Healthcare NHS Trust, London, United Kingdom
Evelien Dekker, Amsterdam University Medical Centers, The Netherlands
Peter P. Stanich, The Ohio State University, Wexner Medical Center Columbus, United States
Francesc Balaguer, Hospital Clínic Barcelona, Spain
Warren Hyer, St Marks Hospital & Chelsea and Westminster Hospital, London, United Kingdom
15:00 - 15:10
Pancreatic cancer is more common thanmelanoma in non-white CDKN2A positive individuals
Colin Young, Ambry Genetics, Aliso Viejo, California, United States
15:10 - 15:20
Lynch Syndrome (LS) patients with inflammatory bowel disease (IBD) have significantly higher intestinal neoplasia risk than LS patients without IBD
Swati G. Patel, University of Colorado – Anschutz School of Medicine, Rocky Moun- tain Regional Veterans Affairs Medical Center, Aurora, Colorado, United States
15:20 - 15:30
Early Onset colorectal mortality trends in Argentina, 1997-2020. Is it time to reduce the age of screening in average-risk adults? First report in Latin America
Marina Antelo, SCo, UNLa, CONICET, Buenos Aires, Argentina
15:30 - 15:40
Detection of early gastric cancer during endoscopic surveillance in CDH1 and CTNNA1 pathogenic variant carriers: higher yield with targeted than with random biopsies
Tanya Bisseling, Radboud university medical centre, Nijmegen, the Netherlands
15:40 - 15:50
Psychosocial distress and quality of life in families with a germline CDKN2A pathogenic variant
Monique van Leerdam, Netherlands Cancer Institute, Amsterdam, The Netherlands
15:50 - 16:00
Variable cancer penetrance among CTNNA1 loss-of-function carriers: Initial results from the CTNNA1 Familial Expansion (CAFÉ) Study
Bryson W. Katona, Perelman Center for Advanced Medicine, Philadelphia,
PA, United States
Héctor Salvador, Hospital Sant Joan de Déu, Barcelona, Spain
Ingrid Winship, University of Melbourne & Royal Melbourne Hospital, Melbourne, Australia
17:15 - 17:25
Digestive burden of patients with constitutional mismatch repair deficiency syndrome, diagnostic pitfalls, and experience of immunotherapy: a report from the C4CMMRD database
Chrystelle Colas, Curie Institute, Paris, France
17:25 - 17:35
Gastric and duodenal cancer in individuals with Lynch syndrome: a nationwide cohort study
Monique van Leerdam, Netherlands Cancer Institute, Amsterdam, The Netherlands
17:35 - 17:45
Familial uveal melanoma and other tumours in 25 families with monoallelic germline MBD4 variants
Marie-Charlotte Villy, Curie Institute, Paris, France
17:45 - 17:55
An evaluation of user experiences, perceptions and attitudes towards Faecal Immunochemical Testing (FIT) for risk-stratified colonoscopy in Lynch syndrome patients
Annie Lincoln, Comprehensive Cancer Centre, King’s College London, London, United Kingdom
17:55 - 18:05
Systematic review of the phenotypic cancer spectrum in NTHL1- associated tumour syndrome emphasizes the need to identify more families to assess cancer risks
Weilun Gao, Royal Melbourne Hospital & University of Melbourne, Australia
18:05 - 18:15
Differences in adenoma and post-colonoscopy colorectal cancer detection between Lynch syndrome carriers with and without
a previous colorectal cancer
Ariadna Sánchez, Hospital Clínic Barcelona, Spain
Venue: Casa de Les Punxes
Address: Av. Diagonal, 420, L’Eixample, 08037 Barcelona
(Limited Places - Registration Required)
Bryson W. Katona, Perelman Center for Advanced Medicine, Philadelphia, PA, United States
Mathew Kalady, The Ohio State University, Comprehensive Cancer Center, Columbus, OH, United States
Gabriela Möslein, Academic Hospital of the University of Düsseldorf, Duisburg, Germany
Pilar Barretina, Catalan Institute of Oncology, Girona Biomedical Research Insitute (IDIBGI), Girona, Spain
09:20 - 09:30
Yield of multigene panel germline genetic testing among those
with advanced colorectal adenomas
Swati G. Patel, University of Colorado Anschutz School of Medicine, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, Colorado, United States
09:30 - 09:40
Can butyrate prevent colon cancer? The AUSFAP study:
A randomised, crossover clinical trial
Finlay Macrae, The Royal Melbourne Hospital, Melbourne, Australia
09:40 - 09:50
Cancer risks associated with germline pathogenic variants in MLH1, MSH2, MSH6, PMS2, and EPCAM genes
Christine Drogan, University of Chicago, IL, United States
09:50 - 09:53
Long read sequencing elucidates complex germline variants in individuals undergoing hereditary gastrointestinal cancer testing
Sami Belhadj, Ambry Genetics, Aliso Viejo, California, CA, United States
09:53 - 09:56
Dietary habits of patients with or without hereditary cancer syndromes- A cross sectional cohort study
Hitasha Mittal, Universitá Vita Salute San Raffaele, Milano, Italy
09:56 - 09:59
A prospective analysis identified mismatch repair genes as candidate predisposing genes for uveal melanoma
Anaïs Le Ven, PSL Research University, Paris, France
09:59 - 10:02
Evaluation of upper gastrointestinal tract surveillance in individuals with Lynch Syndrome (EARLY) - An international registry
Tim Marwitz, University Hospital Bonn, National Center for Hereditary Tumor Syndromes, Bonn, Germany.
10:02 - 10:05
Optimizing POLE and POLD1 variant interpretation: gene-specific classification guidelines and in vitro system for functional assessment
Julen Viana-Errasti, Catalan Institute of Oncology (ICO) & Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
Leticia Moreira, Hospital Clínic Barcelona, Spain
Rodrigo Jover, Hospital General Universitario Dr. Balmis, Alicante
Diane Simeone, NYU Pancreatic Cancer Center, New York, United States
11:30 - 11:40
Objective and subjective life expectancy in Lynch syndrome
Monique van Leerdam, Netherlands Cancer Institute, Amsterdam, The Netherlands
11:40 - 11:50
Racial and ethnic patterns of variants of uncertain significance (VUS) among patients with early-onset colorectal cancer
Andreana N. Holowatyj, Vanderbilt University Medical Center, Nashville, TN, United States
11:50 - 12:00
Ileocecal intubation in Lynch syndrome patients – go all the way!
Katrin van Beekum, University Hospital Bonn, Germany
12:00 - 12:10
An Aspirin a day? The (still) secret weapon against Colorectal Cancer in Lynch Syndrome
Rebecca Tuckey, Te Whatu Ora – Health New Zealand Waitaha Canterbury, New Zeland
12:10 - 12:20
Colorectal adenoma and cancer incidences in path_MMR carriers undergoing surveillance colonoscopy
Pål Møller, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Norway
12:20 - 12:30
Early onset colon and rectal cancer mortality in Lynch syndromes carriers subjected to surveillance colonoscopy
Pål Møller, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Norway
Toni T. Seppälä, Tampere University Hospital, Tampere University and TAYS Cancer Centre, Finland
Bryson W. Katona, University of Pennsylvania Perelman School of Medicine, PA, United States
Joan Brunet, Catalan Institute of Oncology, Girona Biomedical Research Insitute (IDIBGI), Girona, Spain
Stefan Aretz, University of Bonn Medical Center, Bonn, Germany
Emma J. Crosbie, St Mary's Hospital, Manchester, United Kingdom
Neil Ryan, St Mary's Hospital, Manchester, United Kingdom
15:05 - 15:15
Recruiting Lynch Syndrome Patients for clinical research via social media improves participant diversity
Swati G. Patel, University of Colorado Anschutz School of Medicine, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, Colorado, United States
15:15 - 15:25
Development of abdominal desmoid tumours after colectomy and ileorectal anastomosis versus proctocolectomy and ileal pouch- anal anastomosis in familial adenomatous polyposis
Arthur Aelvoet, Amsterdam UMC, The Netherlands
15:25 - 15:35
Outcomes of Lynch syndrome endometrial cancer surveillance
in a nation-wide cohort
Lotte van Leeuwen, Erasmus MC Cancer Institute, Rotterdam, The Netherlands
15:35 - 15:45
Employing innovation to enhance the safety and reliability of restorative prophylactic surgical techniques for patients with familial adenomatous polyposis at a national referral centre
Bruno A. Alves Martins, St Mark’s Hospital, London North West University Healthcare NHS Trust, London, United Kingdom
15:45 - 15:55
Risk of cancer and secondary surgery following colectomy with ileorectal anastomosis and proctocolectomy with ileal pouch-anal anastomosis in familial adenomatous polyposis.
Hicham Bouchiba, Amsterdam UMC, University of Amsterdam Cancer Center, The Netherlands
15:55 - 16:05
The new National english bowel cancer screening programme
for Lynch syndrome colonoscopic Surveillance
Kevin Monahan, St Mark’s Hospital, London North West University Healthcare NHS Trust, London, United Kingdom
Joanne A. de Hullu, Radboud University Medical Center, Nijmegen, he Netherlands
Anne van Altena, Radboud University Medical Centre, Nijmegen, The Netherlands
17:20 - 17:30
Optimizing mainstreaming of genetic testing in parallel with ovarian and endometrial cancer tumor testing: how do we maximize our impact?
Ying Liu, Memorial Sloan Kettering Cancer Center, New York, NY, United States
17:30 - 17:40
Cancer risk in hamatomatous polyposis syndromes: a focus on juvenile polyposis and Peutz-Jeghers
Emanuele Damiano Luca Urso, University of Padua, Italy
17:40 - 17:50
The yield of artificial intelligence (GI genius) in Lynch syndrome – A randomized tandem-colonoscopy trial
Ido Laish, Sheba Medical Center, Israel
17:50 - 18:00
Specifications to the ACMG/AMP criteria enhance the classification of MMR variants
John Paul Plazzer, Royal Melbourne Hospital, Parkville, Australia
18:00 - 18:10
The role of genotoxic gut bacteria in CRC tumourigenesis
in Lynch syndrome
Yen Lin Chu, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, Victoria, Australia
18:10 - 18:20
Evaluating different testing approaches for identifying APC mosaicism in unexplained adenomatous polyposis: paving the way for the new susceptibility gene discovery
Eric Joo, The University of Melbourne, Parkville, Australia
(Only for members)
Venue: Terraza Miramar
Address: Plaça de l’Armada, s/n, Montjüic, Sants-Montjuïc, 08038 Barcelona
(Limited Seats - Registration Required)
Monique van Leerdam, Netherlands Cancer Institute, Amsterdam, The Netherlands
Sue Clark, St Mark’s Hospital, Harrow, United Kingdom
Aung Ko Win, University of Melbourne Centre for Cancer Research, Melbourne, Australia
Veerle Coupe, VU Medical Centre, Amsterdam, The Netherlands
09:20 - 09:30
Prevalence of pathogenic genetic variants in gastric cancer patients ascertained through multigene panel testing
Ophir Gilad, University of Chicago, Chicago, Illinois, United States
09:30 - 09:40
Discovery of recessive effect of human polymerase delta proofreading deficiency through mutational analysis of POLD1- mutated normal and cancer cells
Laura Valle, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
09:40 - 09:50
Interrogating the landscape of immunogenic frameshift mutations in patients with Lynch syndrome and immune suppression programs supporting colorectal cancer development
Aimee Lucas, Icahn School of Medicine at Mount Sinai, New York, NY, United States
09:50 - 10:00
Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data
Elisabeth Munté, Catalan Institute of Oncology (ICO), L’Hospitalet de Llobregat, Spain
10:00 - 10:10
Germline variants in DNA interstrand-cross link repair genes may contribute to increased susceptibility for serrated polyposis in particular with proximal/whole colon localization of polyps, with implications for clinical management and therapeutics
Patrícia Silva, Istituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
10:10 - 10:20
KRAS-G12C: a neglected biomarker for identifying MUTYH- associated polyposis patients
Giovana Torrezan, C.Camargo Cancer Center, São Paulo, Brazil
Allan Spigelman, University of New South Wales, Sydney
Tanya Bisseling, Radboud university medical center, Nijmegen, The Netherlands
Eduardo Vilar, The University of Texas MD Anderson Cancer Center Houston, United States
John Burn, Professor of Clinical Genetics, Cancer Prevention, Newcastle University, Newcastle, United Kingdom
Joanne Ngeow, Cancer Genetics Service, National Cancer Centre Singapore
Finlay Macrae, The Royal Melbourne Hospital, Melbourne, Australia
12:25 - 12:35
Preventing Cancer in Lynch Syndrome: Vaccination with muta- tion-derived neoantigen-loaded dendritic cells eliminates precancerous cells
Asima Abidi, Radboud university medical center, Nijmegen, The Netherlands
12:35 - 12:45
Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer
Marnix Jansen, CL Cancer Institute, University College London, London, United Kingdom
12:45 - 12:55
Development and validation of a MIRNA-Based signature, Powered by machine learning, for predicting 10-year recurrence-free and overall survival after curative-intent treatment in early-onset colorectal cancer
Alessandro Mannucci, Beckman Research Institute of City of Hope, Monrovia, CA, United States
12:55 - 13:05
Colorectal carcinomas from path_MSH6 carriers display a lower degree and/or later onset of microsatellite instability and evoke weaker immune responses
Noah Cornelis Helderman, Leiden University Medical Center, Leiden,
The Netherlands
13:05 - 13:15
Phase IIA trial of encapsulated rapamycin (ERAPA) in patients with familial adenomatous polyposis to reduce intestinal polyp burden: 6 month interim results
Carol Burke, Cleveland Clinic, Cleveland, OH, United States
13:15 - 13:25
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
Albert Tenesa
Nicoline Hoogerbrugge, Radboud university medical center, Nijmegen, The Netherlands
Dr. Gabriel Capellá, Catalan Institute of Oncology (ICO) & Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Spain
INFORMATION
General information & deadlines
Registration
Meeting registration
ABSTRACT CONTEST
10 October 2023
Abstract Submission Opening
21 January 2024
Deadline to submit your abstract(s)
Mid-March 2024
Notifications to the abstract submitters
1 April 2024
The abstract presenting author must be registered for the conference at the latest by this date
Why to submit your abstract?
ABSTRACT BOOK
SOCIAL EVENTS
Welcome reception
Wednesday, June 19th 2024
*Included on the registration fee
Get Together Dinner
THURSDAY, JUNE 20TH AT 8:00PM
Sponsors
United European Gastroenterology (UEG) is an international non-profit organisation dedicated to reducing the burden of digestive diseases and promoting a deeper understanding of them among the public and medical experts. We achieve this through top-tier education, research support, community building and the advancement of clinical standards.
Address: Wickenburggasse 1, 1080 Wien, Austria
Email: office@ueg.eu
Contact +43-1-997 1639
Website: ueg.eu
Bufalynch was created in 2017 as a tribute to the captain of the Empuriabrava Castelló Football Club, Iñaki Fernández Orjales “Búfalo”, who left us eight years ago due to Lynch syndrome. The association BufaLynch organizes every year a 7-a-side soccer tournament at the municipal soccer field of Empuriabrava (Girona, Spain), which bears his name. The benefits collected are destined to research on this hereditary syndrome and to promote awareness of what it means to live with Lynch syndrome. The 6th Solidarity Tournament will be held on June 22nd, which will include the participation of several soccer teams, live music and many more activities.
Email: gabriel.ifo@aparellador.org
Contact +34 608 393 339
Bufalynch was created in 2017 as a tribute to the captain of the Empuriabrava Castelló Football Club, Iñaki Fernández Orjales “Búfalo”, who left us eight years ago due to Lynch syndrome. The association BufaLynch organizes every year a 7-a-side soccer tournament at the municipal soccer field of Empuriabrava (Girona, Spain), which bears his name. The benefits collected are destined to research on this hereditary syndrome and to promote awareness of what it means to live with Lynch syndrome. The 6th Solidarity Tournament will be held on June 22nd, which will include the participation of several soccer teams, live music and many more activities.
Email: gabriel.ifo@aparellador.org
Contact +34 608 393 339
Founded in 1896 in Basel, Switzerland, as one of the first industrial manufacturers of original medicines, Roche has become the world’s largest biotechnology company and a global leader in in vitro diagnostics. The company pursues scientific excellence to discover and develop medicines and diagnostics to improve and save the lives of people around the world. We are pioneers in personalized medicine and aim to further transform the way healthcare is delivered to have an even greater impact. To provide the best care for each individual, we partner with many other entities and combine our strengths in Diagnostics and Pharmacy with insights from clinical practice data.
In recognition of our efforts to pursue a long-term perspective in everything we do, Roche has been named, for the 13th consecutive year, one of the most sustainable companies in the pharmaceutical industry by the Dow Jones Sustainability Indexes. This distinction also reflects our efforts to improve access to care together with local partners in all the countries where we operate.
Genentech in the United States is a wholly owned member of the Roche Group. In addition, Roche is the majority shareholder of Chugai Pharmaceutical, Japan.
For more information, visit www.roche.com and www.roche.es
Address: Avda. de la Generalitat, 171-173, E-08174 Sant Cugat del Vallès
Email: barcelona.webmaster@roche.com
Contact: +34 935 834 000
ERN GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up as compared to non-hereditary cancers. In addition ERN GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
ERN GENTURIS is working to improve identification of these syndromes, minimize variation in clinical outcomes, design and implement guidelines, develop a GENTURIS registry, support research, and empower patients. The network is educating the public and healthcare professionals and fosters the sharing of best practice across Europe. Access to multidisciplinary care is continuously improved, with new models and standards for sharing and discussing complex cases. The network is enhancing the quality and interpretation of genetic testing and increasing patient participation in clinical research programs. ERN GENTURIS is coordinated by the Radboud university medical center in Nijmegen, The Netherlands. 51 clinical centers in 23 countries are members of ERN GENTURIS
Address: Radboud university medical center
Department of Human Genetics (route 836)
Geert Grooteplein zuid 10
6525 GA Nijmegen
The Netherlands
Email: genturis@radboudumc.nl
Website: www.genturis.eu
Lynsight (formerly LS CancerDiag) is a Finnish company based in Helsinki and the developer of DiagMMR. This novel test can find inherited functional defects directly in MMR proteins derived from a minute skin biopsy, with high accuracy, and before cancers develop. Patients, families, providers, and payers are stuck in the unknown. Lynsight offers a new way to test for Lynch syndrome that shines a light on the functional problem — and enlightens the path ahead. DiagMMR will be introduced into the US market once the clinical validation studies are completed.
Address: Arabiankatu 12, 00560 Helsinki, Finland
Email: contact@lscancerdiag.com
Web: www.lscancerdiag.com
- Contribute to the development of research on Lynch Syndrome or HNPCC
- Disseminate the results of this research.
- Contribute to minimizing the psychological impact both at the time of receiving the diagnosis and throughout the life of the affected person favoring the creation and/or specialization of competent health professionals in this field.
- Promote policies to promote prevention, regular and systematic monitoring of patients and publicize the possibilities of different treatments.
- Provide support to families, inform them, and give them advice from specialists in this type of genetic diseases.
- Develop actions on the population and institutions with the purpose of raising awareness among the population and health professionals in order to improve knowledge about this disease and improve the way in which to take charge (assume it).
- And all those others that the associates believe are of interest and that are related to Lynch Syndrome.
To achieve its goals, the association carries out the following activities:
- Internal and external meetings.
- Organization of dissemination and training events for associates.
Address: Calle de Nicaragua 48, 08029 – Barcelona, Spain
Contact: +34 9105 45 02
Website: afalynch.org
GoodGut is a biotechnology company, part of the HIPRA group, focused on the development of non-invasive diagnostic and treatment solutions for digestive diseases based on the intestinal microbiota.
Our goal is to introduce the intestinal microbiota as a new paradigm in clinical standards to prevent, diagnose and treat digestive diseases. Through innovative and high-impact solutions, we aim to significantly enhance the quality of life of people affected by these pathologies.
Address: PARC CIENTÍFIC I TECNOLÒGIC DE LA UNIVERSITAT DE GIRONA | Edifici Centre d’Empreses Giroemprèn – Carrer Pic de Peguera, 11, 17003- Girona, Spain
Email: info@goodgut.eu
Contact +34 972 18 32 20
Website: goodgut.eu
Fujifilm Healthcare Spain is a leading company in the healthcare sector, particularly in the field of endoscopy. They are constantly innovating to provide high-quality products, excellent services, and highly personalized business solutions in the world of endoscopy.
Their endoscopy technology is powered by AI and is used for both diagnostic and interventional endoscopy. They have created an integrated portfolio of solutions that can help the healthcare system focus on patient needs.
Fujifilm healthcare Spain offers a range of innovative endoscopy technologies from screening to treatment. They provide access to scientific information about their technologies such as Linked Color Imaging (LCI), Blue Light Imaging (BLI), and CAD EYE through their BLI portal.
Address: Anabel Segura 16, Edif. 3 Planta 4, 28018 Alcobendas, Madrid, Spain
NIF: B82097940
Email: andoni.bilbao@fujifilm.com
Contact: +34 661884892
Website: www.fujifilm.com/es/es-es/healthcare
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The 10th Biennial Meeting of the International Society for Gastrointestinal Hereditary Tumours ill apply to the European Accreditation Council for Continuing Medical Education (EACCME®).
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