This is a scientific meeting for scientists and health professionals involved in the research, diagnosis and management of familial gastrointestinal cancer.
Please note: This programme will be continually updated - last updated Thursday, 31 January 2019.
| 1330 - 1430 | PLSD Business Meeting: All interested are welcomed |
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1600 - 1900 |
Meeting registration desk open - wine and cheese served |
| Public lecture: Familial Bowel Cancer Syndromes - an update and international perspective |
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| 1930 - 1935 | Welcome |
| 1935 - 1950 | Update on diagnosis and management Patrick Lynch |
| 1950 - 2020 | Panel: What is happening in other countries? Ian Frayling, Nicoline Hoogerbrugge, Finlay Macrae |
| 2020 - 2100 | Discussion |
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Patrick LynchPatrick Lynch is Professor of Medicine, Department of Gastroenterology, Hepatology, Nutrition, University of Texas MD Anderson Cancer Centre. He has been a member of InSiGHT since its inception and was Co-chair 2009-11. He was a member of the predecessor organisations, the LCPG and ICG-HNPCC. His current interest is the development of a web-based platform for communication of risk information within mutation-positive families. He ran the 2016 New York Marathon to raise funds for InSiGHT. |
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Ian FraylingIan qualified in Clinical Medicine at Cambridge. After initial training in all branches of pathology, he studied DNA repair for his PhD. He is the only Genetic Pathologist in NHS service, at the Institute of Medical Genetics, Cardiff.Ian was the Family Cancer Clinic Research Fellow at St Mark's Hospital, 1993-1998. He now concentrates on variant interpretation, genotype-phenotype correlations and systematic testing of incident cancers to identify hereditary cases. He is a Fellow of the Royal College of Pathologists, a UK National External Quality Assessor of MMR IHC, an Honorary Senior Clinical Research Fellow at Cardiff University, and a Visiting CI at Cancer Council New South Wales. He is a co-author on the upcoming 5th Edition of the WHO/IARC Classification of Tumours "Blue Books" series. (orcid.org/0000-0002-3420-0794) Ian is also a member of InSiGHT Council and the Variant Interpretation Committee; a member of CGAICC; the steering group of the Prospective Lynch Syndrome Database; an Honorary Medical Adviser to Lynch Syndrome UK; and Treasurer of the UK Cancer Genetics Group, inter alia. In 2017, Ian was conferred with Honorary Fellowship of the Faculty of Pathology of the Royal College of Physicians of Ireland in recognition of his outstanding lifetime contribution to the practice of pathology and received the Association of Clinical Pathologists' Dyke Foundation Medal. He will deliver the Goudie Medal lecture in January 2019 at the Pathological Society's Winter Meeting. |
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Nicoline HoogerbruggeProf Nicoline Hoogerbrugge, MD, PhD, is Over the last 5 years, her work has mainly focused on the implementation of current knowledge in hereditary cancer and finding new genetic factors for gastrointestinal cancer. Her research in the past 5 years resulted in:
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Finlay MacraeFinlay Macrae is Professor in the Department of Medicine, University of Melbourne, Australia and Head of Colorectal Medicine and Genetics at The Royal Melbourne Hospital. He was a founding member of the antecedent Leeds Castle Polyposis |
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0700 - 1830 |
Registration desk open |
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0830 - 0845 |
Official opening |
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0845 - 0900 |
Gastrointestinal hereditary tumours: what we know and what we need to know? |
| 0900 - 0920 | Cancer risks associated with MMR gene mutations - how can we define further? Mark Jenkins |
| 0920 - 0950 | Free papers - 5 minutes each followed by 10 minutes discussion Cancer risks by age and gender in carriers of pathogenic MMR variants: Findings from the Prospective Lynch Syndrome Database (PLSD) report Mev Dominguez Valentin Lars J. Lindberg Breast cancer risk not increased in women with Lynch Syndrome identified by multi-gene panel testing Sonia Kupfer Sanne Ten Broeke |
| 0950 - 1030 | Free papers - 5 minutes each followed by 15 minutes discussion Molecular tumour testing in Lynch-like patients reveals de nono mosaic DNA mismatch repair gene pathogenic variants transmitted to offspring Chrystelle Colas Predictors of class: Using protein structure and function information to predict and understand mismatch repair variant pathogenicity Bernard Pope cDNA analyses of the MMR genes MLH1, MSH2, MSH6 and PMS2 investigate the effect of VUS upon splicing, detect unexpected splicing defects, and find allelic losses indicating a germline defect Elke Holinski-Feder Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation Gabriel Capella Comprehensive constitutional genetic and epigenetic characterization of Lynch-like individuals Gabriel Capella |
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1030 - 1100 |
Morning Tea |
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1100 - 1125 |
Finding Lynch Syndrome and beyond |
| 1125 - 1200 | Free papers - 5 minutes each followed by 15 minutes discussion Reflex Mis-Match-Deficiency testing of colorectal cancer below age 70 to detect Lynch Syndrome: a prospective, multicenter, multidisciplinary evaluation of uptake, yield and appreciation Nicoline Hoogerbrugge UK National External Quality Assessment Scheme for Immunocytochemistry and In Situ Hybridisation: 10 years of international experience with mismatch repair proteins shows that participation improves performance Ian Frayling Evaluating tumour mutational signatures for classification of mismatch repair deficiency and identification of Lynch syndrome and MLH1 methylated subtypes Peter Georgeson RAID-LS: a non-invasive tool based on Joan Brunet |
| 1200 - 1215 | Free papers - 5 minutes each followed by 5 minutes discussion Multiple Genetic Tumor Syndromes: When to suspect them? Maurizio Genuardi Germline pathogenic variants of hereditary cancer genes in 12,347 colorectal cancer patients and 27,706 controls in Hidewaki Nakagawa |
| 1215 - 1230 | Somatic mutations in colorectal cancer and implications for genetic testing Gabriel Capella |
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1230 - 1325 |
Lunch Break |
| 1325 - 1350 | The immune system in Lynch Syndrome/hereditary colorectal cancer Magnus von Knebel Doeberitz |
| 1350 - 1430 | Free papers - 5 minutes each followed by 15 minutes discussion The shared mutation and neoantigen landscape of MMR-deficient cancers suggests immunoediting during Matthias Kloor High endothelial venules are associated with immune evasion and hereditary background in microsatellite-unstable colorectal cancers Aysel Germline variants associated with immune infiltration in solid Sahar Shahamatdar Intratumoural assessment of colorectal cancer diagnostic and prognostic markers using RNA in situ hybridization Tim Eglinton A mouse model for a vaccine against Lynch Syndrome-associated cancers Matthias Kloor |
| 1430 - 1445 | Free papers - 5 minutes each followed by 5 minutes discussion Genetic Cancer Susceptibility in Adolescents and Young Adults with Colorectal Cancer Therapy-associated polyposis in childhood and young Matthew Yurgelun |
| 1445 - 1510 | Update on targeted therapies in Gastrointestinal Oncology Michael Hall |
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1510 - 1540 |
Afternoon Tea |
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1540 - 1605 |
Hereditary Diffuse Gastric Cancer (HDGC) - past, present, future |
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1605 - 1615 |
Genetic counselling in HDGC - the bi-cultural context |
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1615 - 1630 |
Challenges in genetic counselling - case discussions |
| 1630 - 1655 | Free papers - 5 minutes each followed by 10 minutes discussion Early Genetic Counseling and Detection of CDH1 Mutation in Asymptomatic Carriers Improves Survival in Hereditary Diffuse Gastro Cancer R Matthew Walsh CDH1 Gastric Cancer: Does Family History Change Your Risk? Margaret O'Malley Multiple-gene panel analysis in an Italian cohort of patients with familial gastric cancer Gianluca Tedaldi |
| 1655 - 1710 | Free papers - 5 minutes each followed by 5 minutes discussion Technical and Endoscopic Factors in CDH1 gastric cancer surveillance Carol Burke Gastroscopic outcomes compared with histology in CDH1 mutation carriers; 9 years experience with the International Gastric Cancer Linkage Consortium Consensus Guideline Jolanda van Dieren |
| 1710 - 1725 | Gastroscopy in HDGC - an update Massimiliano Di Pietro |
| 1725 - 1740 | Guideline update - hot news from Wanaka Nicoline Hoogerbrugge |
| 1745 | Leave venue to walk to Welcome Reception |
| 1800 - 2000 | Welcome Reception - Maritime Museum |
| 2000 | Council Dinner |
| 0730 - 0830 | CaPP3 Collaborators meeting (invitation only) | |||
| 0830 - 0850 | New colorectal cancer genes: one big happy family? Ian Frayling |
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| 0850 - 0905 | Genetics of Serrated Polyposis Syndrome (SPS) Dan Buchanan |
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| 0905 - 0930 | Free papers - 5 minutes each followed by 10 minutes discussion Colorectal cancer risk in NTHL1 heterozygous mutation carriers Abi Ragunathan Germline POLE and POLD1 variation in persons with colorectal cancer from the Colon Cancer Family Registry Cohort Khalid Mahmood Variant profiling of colorectal adenomas from patients with MSH3-related adenomatous polyposis Claudia Perne |
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| 0930 - 0955 | Free papers - 5 minutes each followed by 10 minutes discussion Roshani Patel Pathogenic variants in new colorectal cancer/polyposis genes rarely identified among patients with colorectal, breast, prostate, and pancreatic cancer Brandie Heald Leach Exome sequencing identified potential causative candidate genes for serrated polyposis syndrome Sophia Peters |
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| 0955 - 1015 | Pathogenesis of Colorectal Cancer in SPS Christophe Rosty |
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1015 - 1045 |
Morning Tea |
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1045 - 1100 |
Clinical interpretation of genetic variants in hereditary GI Cancer: Where we are and where do we go? |
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| 1100 - 1115 | The InSiGHT Database – continuing the mission of centralising variants of the GI Cancer John Paul Plazzer |
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| 1115 - 1155 | Free papers - 5 minutes each followed by 15 minutes discussion Interpretation of inheritable DNA variation: How much room for error across genetic services? Matthew Daly Variant analyses of PMS2 by Single-Molecule Long-Read Sequencing Curation and classification of Adenomatous Polyposis Coli (APC) gene variants responsible for familial adenomatous polyposis (FAP) in ClinVar and the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) locus-specific database Xiaoyu Yin Splicing Effects and In Silico Pathogenicity Predictions For APC Missense Variants Reported in ClinVar Marc Greenblatt The detection of hybrid mosaic mutations during analysis for APC mosaicism Manon Suerink |
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| 1155 - 1205 | Genetic testing - which genes on which panel? Ian Frayling, Gabriel Capella |
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| 1205 - 1230 | Panel Discussion Heather Hampel, Ian Frayling (Panel Co-ordinator) |
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1230 - 1330 |
Lunch and Asia Pacific Meeting |
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1330 - 1350 |
What constitutes good colonoscopy and gastroscopy in Lynch Syndrome and FAP |
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| 1350 - 1425 | Free papers - 5 minutes each followed by 15 minutes discussion Risk of interval colorectal cancer in patients with Lynch Syndrome undergoing surveillance in New Zealand – results from the New Zealand Familial Gastrointestinal Cancer Service Mehul Lamba Quality of and compliance with colonoscopy in Lynch Syndrome surveillance: Are we getting it right? Karen Hartery Stage of CRC is not associated with time since Toni Seppala The impact of a risk management clinic model on surveillance and colorectal cancer incidence in patients with Lynch Syndrome Andrew Buckle |
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| 1425 - 1440 | Free papers - 5 minutes each followed by 5 minutes discussion Identifying clinical features associated with advanced gastric pathology in familial adenomatous polyposis Gautam Mankaney Individualized surveillance for serrated polyposis syndrome: Results from a prospective 5-year international cohort study Arne Bleikenberg |
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| 1440 - 1500 | Management of SPS Evelien Dekker |
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1500 - 1530 |
Afternoon tea |
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1530 - 1550 |
Management of duodenal adenomas in FAP |
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| 1550 - 1625 | Free papers - 5 minutes each followed by 15 minutes discussion The effect of endoscopic duodenal interventions in patients with familial adenomatous polyposis Victorine Roos Duodenal Adenomas and Cancer in Familial Adenomatous Polyposis Isabel Martin |
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| 1625 - 1645 | Pancreatic screening for John Windsor |
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1645 - 1730 |
InSiGHT Annual General Meeting |
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| 1830 | Buses depart SkyCity Auckland Convention Centre for Auckland Museum | |||
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1900 - Midnight |
Meeting Gala Dinner- Auckland Museum |
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0730 - 0830 |
InSiGHT Database Governance Committee Meeting |
| 0830 - 0845 | Genetic counselling - implications of Heather Hampel |
| 0845 - 0915 | Free papers - 5 minutes each followed by 10 minutes discussion The clinical utility and impact on risk categorisation of a lifestyle and genomic risk prediction model for colorectal cancer Sibel Saya Shared Medical Appointments for Lynch Syndrome: An Effective and Efficient Model for Patient Management Lisa LaGuardia "When do I tell my family, what do I tell them?"; the importance of psychological adaptation to a genetic diagnosis before patients are able to share information about their diagnosis – findings from the Family Web study. Selina Goodman Directly approaching individuals at risk of inherited colorectal cancer syndromes: The New Zealand experience Julie Arnold |
| 0915 - 0930 | Sue Clark |
| 0930 - 0945 | Oligopolyposis/SPS - when is colectomy indicated John Keating |
| 0945 - 1000 | Proctectomy and advanced pouch adenomas in FAP Matthew Kalady |
| 1000 - 1030 | Free papers - 5 minutes each followed by 15 minutes discussion Indications and outcomes for pouch excision in patients with familial adenomatous polyposis (FAP) Roshani Patel ATZ Neoplasia: A comprehensive examination of a dangerous phenomenon James Church Safety and efficacy of laparoscopic near-total colectomy and Chukwuemeka Anele |
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1030 - 1100 |
Morning tea |
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| 1100 - 1115 | Free papers - 5 minutes each followed by 5 minutes discussion The Impact of Desmoid Tumors on Quality of Life and Pouch Survival, in patients with Familial Adenomatous Polyposis who have undergone Ileal Pouch-Anal Anastomosis James Church Laparotomy results in more desmoid tumour when compared to laparoscopy in a preclinical model of Timothy Chittleborough |
| 1115 - 1145 | Case discussion - Panel Christopher Wakeman (Panel Coordinator) |
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1145 - 1155 |
New considerations in surgery for Lynch Syndrome? |
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1155 - 1210 |
Extensive Surgery in LS - factoring in genes and gender |
| 1210 - 1220 | Lynch Syndrome - segmental colectomy and aspirin John Burn |
| 1220 - 1230 | Discussion |
| 1230 - 1250 | Hereditary Colorectal Cancer 1989 - 2019: Perspectives from the past and predictions for the future James Church |
| 1250 - 1305 | InSiGHT 2021 and close of |
| 1305 - 1310 | Poroporoaki All delegates to remain seated |
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1310 - 1345 |
Lunch |
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1345 - 1400 |
Walk to Waiheke Island Ferry |
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1430 - 1930 |
Waiheke Island Trip (optional) |
Rachel Cook
Conference Innovators
P: +64 9 525 2464
E: rachel@conference.co.nz
