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Wednesday 20 March

Public Evening: Familial Bowel Cancer Syndromes - an update and international perspective
1900 - 1930 Registration and tea/coffee
1930 - 1935 Welcome
Susan Parry
1935 - 1940 Cancer Society Auckland/Northland
Alistair Burry
1940 - 1955 Update on diagnosis and management
Patrick Lynch
1955 - 2025 Panel: What is happening in other countries?
Ian Frayling, Nicoline Hoogerbrugge, Finlay Macrae
2025 - 2030 What is happening in New Zealand?
Julie Arnold
2030 - 2100 Discussion


Patrick Lynch

Patrick 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.



Ian Frayling

Ian 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.  (

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.


Nicoline Hoogerbrugge

Prof Nicoline Hoogerbrugge, MD, PhD, is full professor in hereditary cancer at Radboud University Medical Center, Nijmegen, The Netherlands. Her ambition is to improve detection, diagnosis and treatment of hereditary cancer and prevent cancer in relatives. She is the coordinator of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) ( 

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:

  1. Detection of various new genetic risk factors for gastrointestinal cancer
  2. Improved recognition of hereditary gastrointestinal cancer
  3. Knowledge concerning efficient and effective implementation of guidelines on hereditary gastrointestinal cancer
  4. Knowledge on the psychosocial impact of hereditary gastrointestinal cancer
  5. Development of the first steps towards vaccination for the prevention of colorectal cancer in Lynch Syndrome


Finlay Macrae

Finlay 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 Group, and instigated creation of the InSiGHT MMR database, its Variant Interpretation Committee, and the association with the Human Variome Project.

Thursday 21 March

0830 - 0835 Official opening - Mihi Whakatau
0835 - 0840 Official opening
Ashley Bloomfield, Director General of Health

0840 - 0845

Official opening
Susan Parry, InSiGHT Chair

0845 - 0900

Chair: Susan Parry, Maurizio Genuardi


Gastrointestinal hereditary tumours: What we know and what we need to know?
Sue Clark

0900 - 0920 Cancer risks associated with MMR gene mutations - how can we define further?
Mark Jenkins
0920 - 0950 Chair: Allan Spigelman, Maurizio Genuardi

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

Breast cancer risk not increased in women with Lynch Syndrome identified by multi-gene panel testing
Sonia Kupfer

Effective triage of sebaceous neoplasia for Lynch Syndrome
Ingrid Winship

Occurrence of polyps and incident colorectal carcinomas in patients with PMS2-associated Lynch Syndrome: A prospective cohort analysis
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

1030 - 1100

Morning Tea

1100 - 1125

Chair: Patrick Lynch, Nicoline Hoogerbrugge


Finding people at risk of Lynch Syndrome
John Burn

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 faecal bacterial signature for Lynch Syndrome surveillance
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 Japanese population
Hidewaki Nakagawa
1215 - 1230 Somatic mutations in colorectal cancer and implications for genetic testing
Gabriel Capella

1230 - 1325

Lunch Break

1325 - 1350 Chair: Magnus von Knebel Doeberitz, Ian Frayling

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 tumor evolution
Alexej Ballhausen

High endothelial venules are associated with immune evasion and hereditary background in microsatellite-unstable colorectal cancers 
Aysel Ahadova

Germline variants associated with immune infiltration in solid tumors
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 Chair: Ian Frayling, Ben Lawrence

Free papers - 5 minutes each followed by 5 minutes discussion

Genetic Cancer Susceptibility in Adolescents and Young Adults with Colorectal Cancer
Richarda de Voer

Therapy-associated polyposis in childhood and young adulthood cancer survivors
Matthew Yurgelun
1445 - 1510 Update on targeted therapies in Gastrointestinal Oncology
Michael Hall

1510 - 1540

Afternoon Tea

1540 - 1605

Chair: Parry Guilford, Ingrid Winship

Hereditary Diffuse Gastric Cancer (HDGC) - past, present, future

Parry Guilford

1605 - 1615

Genetic counselling in HDGC - the bi-cultural context
Kim Gamet

1615 - 1630

Challenges in genetic counselling - case discussions
Kim Gamet

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 Chair: Parry Guilford, Susan Parry

Gastroscopy in HDGC - an update

Massimiliano Di Pietro
1710 - 1725 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
1725 - 1740 Guideline update - hot news from Wanaka
Nicoline Hoogerbrugge
1800 - 2000 Welcome Reception - Maritime Museum 
2000 Council Dinner

Friday 22 March

0830 - 0850 Chair: Allan Spigelman, James Church

New colorectal cancer genes: One big happy family?

Ian Frayling
0850 - 0905 Genetics of Serrated Polyposis Syndrome (SPS)
Dan Buchanan
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
0930 - 0955 Free papers - 5 minutes each followed by 10 minutes discussion

Patient derived intestinal mucosal organoids: A new technology to study pathogenesis in familial adenomatous polyposis 
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

Pathogenesis of Colorectal Cancer in SPS
Christophe Rosty

1015 - 1045

Morning Tea

1045 - 1100

Chair: Finlay Macrae, Gabriel Capella

Clinical interpretation of genetic variants in hereditary GI Cancer: Where we are and where do we go?
Maurizio Genuardi

1100 - 1115 The InSiGHT Database – continuing the mission of centralising variants of the GI Cancer genes
John Paul Plazzer
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 
Richarda de Voer

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
1155 - 1205 Genetic testing - which genes on which panel?
Ian Frayling
1205 - 1230 Panel testing - international practice
Panel Discussion
Ian Frayling (Panel Co-ordinator), Heather Hampel, Ingrid Winship and Gabriela Capella 

1230 - 1330


1330 - 1350

Chair: Andrew Latchford, Russell Walmsley

What constitutes good colonoscopy and gastroscopy in Lynch Syndrome and FAP
Andrew Latchford

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 last colonoscopy in Lynch Syndrome: A Prospective Lynch Syndrome Database (PLSD) report
Toni Seppala

The impact of a risk management clinic model on surveillance and colorectal cancer incidence in patients with Lynch Syndrome
Elise Cannan
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
1440 - 1500 Management of SPS
Evelien Dekker

1500 - 1530

Afternoon tea

1530 - 1550

Chair: Andrew Latchford, Frank Weilert

Management of duodenal adenomas in FAP
Evelien Dekker

1550 - 1625 Free papers - 5 minutes each followed by 15 minutes discussion

Upper gastrointestinal screening and surveillance in patients with Familial Adenomatous Polyposis syndrome
Jerry Chin

Duodenal Adenomas and Cancer in Familial Adenomatous Polyposis
Isabel Martin

The effect of endoscopic duodenal interventions in patients with familial adenomatous polyposis
Victorine Roos

Duodenal Cancer in Patients with Familial Adenomatous Polyposus Has a Comparable Prognosis Compared to Sporadic Non-papillary Duodenal Cancer
Matthew R. Walsh

1625 - 1645 Pancreatic screening for high risk familial syndromes
John Windsor

1645 - 1730

InSiGHT Business Meeting


1900 - Midnight

Meeting Gala Dinner- Auckland Museum

Saturday 23 March 2019

0830 - 0845 Chair: Heather Hampel, Julie Arnold

Genetic counselling - implications of panel and tumour testing
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 Chair: Chris Wakeman, Gabriela Moslein

Timing of surgery in FAP
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 ileo-distal sigmoid anastomosis  as a modification of total colectomy and ileorectal anastomosis for prophylactic surgery in patients with adenomatous polyposis syndromes– a comparative study
Chukwuemeka Anele

1030 - 1100

Morning tea

1100 - 1115 Chair: Sue Clark, Ian Bissett

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 desmoid tumour in familial adenomatous polyposis
Timothy Chittleborough
1115 - 1145 Clinical case discussion
Chris Wakeman (Panel Coordinator), Sue Clark, Matt Kalady, Gabriela Moslein

1145 - 1155

New considerations in surgery for Lynch Syndrome?
Ian Bissett

1155 - 1210

Extensive Surgery in LS - factoring in genes and gender
Gabriela Moslein

1210 - 1220 Lynch Syndrome - segmental colectomy and aspirin
John Burn
1220 - 1230 Discussion
1230 - 1250 Chair: Susan Parry


Hereditary Colorectal Cancer 1989 - 2019: Perspectives from the past and predictions for the future
James Church
1250 - 1305 InSiGHT 2021 and close of meeting
1305 - 1310 Poroporoaki
All delegates to remain seated

1310 - 1345


1430 - 1930

Waiheke Island Trip (optional)








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Conference Innovators
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