Program
Sessions
Tuesday 30th Aug.: Family Cancer Clinics
Family Cancer Clinics Day
Registration
Welcome
Simon Troth
Session One: New gene discoveries in colorectal cancer and colonic polyposis
Chairperson: Rachel Williams
New gene discoveries in colorectal cancer and colonic polyposis
Dan Buchanan
Overcoming barriers to cascade testing in families with Lynch Syndrome
CRC polygenic risk score implementation research
Sibel Saya
Morning Tea Break
Session Two: Endocrine Genetics
Paediatric overview with rare gene update (DICER 1)
Louise Conwell
Familial Pituitary Tumour Syndromes
Anne McCormack
Hereditary thyroid syndromes
Rory Clifton Bligh
Lunch Break
AGM 12.30 - 13.00
Session Three: Gynaecological Cancers
Chairperson: Sarah O’Sullivan (Lucinda Salmon, in-person Co-Chair)
Testing personalised treatments based on genomic profiling in preclinical models of rare endometrial cancers
Holly Barker
PMS2 mutations in endometrial cancer patients unselected for personal or family histories of cancer: a frequent low pene
PMS2 mutations in endometrial cancer patients unselected for personal or family histories of cancer: a frequent low penetrance cause of endometrial cancer
PARPi treatment and genetic predisposition by testing tumour DNA.
Afternoon Tea Break
Session Four: Incorporating tumour testing into germline analysis and interpretation
Chairperson: Eliza Courtney
Use of tumour RNA-seq for interpretation of germline variants
Chelsea Mayoh
Tumour analysis can help detect patients with mosaicism in cancer predisposition genes by variant allele frequency enric
Tumour analysis can help detect patients with mosaicism in cancer predisposition genes by variant allele frequency enrichment and second hits
Lesley Rawlings
Cancer genomes help solve the how, why and where for familial cancer syndromes
Ian Majewski
Establishment and preliminary outcomes of a collarative national cancer molecular variant review meeting
Jack Wheeler
Wednesday 31st Aug.: Clinical and Scientific Updates
Clinical and Scientific Updates
Registration
Session 1
Welcome and Chairperson: Paul James
Bilateral Oophorectomy and All-Cause Mortality in BRCA1 Mutation Carriers.
The Development and Evaluation of a Decision Aid for BRCA1/2 Genetic Testing in High-Risk Malaysian Families with Varyin
The Development and Evaluation of a Decision Aid for BRCA1/2 Genetic Testing in High-Risk Malaysian Families with Varying Degrees of Health Literacy
Nur Tiara Hassan
What is the impact of BRCA1/2 status on young women's reproduction and relationships after predictive testing? An Austra
What is the impact of BRCA1/2 status on young women's reproduction and relationships after predictive testing? An Australian case-control study
Laura Forrest
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualit
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
Margaret Gleeson
BRA-STRAP: Genetic testing, risk management and a foundation for future research
Melissa Southey
Highlighting the gaps in the current prostate cancer germline genetic testing environment and the impact on these patien
Highlighting the gaps in the current prostate cancer germline genetic testing environment and the impact on these patient's clinical management
Nandor Roczo
Morning Tea Break
Session 2
Chairperson: Melissa Southey
CRISPR screens identify gene targets and drug repositioning opportunities at breast cancer risk loci
Joseph Rosenbluh
A CRISPR screen of candidate breast cancer risk genes using a T cell cytotoxicity assay to identify gene implicated in i
A CRISPR screen of candidate breast cancer risk genes using a T cell cytotoxicity assay to identify gene implicated in immune-surveillance
Georgia Chenevix-Trench
Establishing Australia’s first familial melanoma clinic
Aideen McInerney
Living with familial melanoma, and the impact of genetic testing. A qualitative study
Clare Primiero
Lunch Break
Session 3
Chairperson: Dan Buchanan
Combined germline testing for cancer susceptibility and NGS tumor profiling: a large prospective cohort study
Identification of actionable genetic variants using multigene panel testing in uterine cancer patients advocates for uni
Identification of actionable genetic variants using multigene panel testing in uterine cancer patients advocates for universal comprehensive germline testing
Nandor Roczo
Finding new causes of hereditary breast cancer: resolving the role of inherited promoter hypermethylation
Ian Campbell
Unusual suspects in hereditary melanoma: POT1, POLE, BAP1
Ellie Maas
Predicting outcome in patients with prostate cancer using the multifactorial appreciation of Appl1, Sortilin and Syndeca
Predicting outcome in patients with prostate cancer using the multifactorial appreciation of Appl1, Sortilin and Syndecan-1
Carmela Martini and Jessica Logan
Afternoon Tea Break
Session 4
Chairperson: Tu Nguyen-Dumont
Longitudinal quantitative psychosocial assessment of Whole-body MRI screening program
Milita Zaheed
Co-observation of germline pathogenic variants in different breast cancer susceptibility genes: results from case-case a
Co-observation of germline pathogenic variants in different breast cancer susceptibility genes: results from case-case analysis of the BRIDGES sequencing dataset
Aimee Davidson
Variant prioritization model identifies splice disrupting deep intronic variants in BRCA1, BRCA2 and PALB2 in familial b
Variant prioritization model identifies splice disrupting deep intronic variants in BRCA1, BRCA2 and PALB2 in familial breast cancer cases
Daffodil Canson
The clinical dilemma of BRCA1 exon 11 splicing variants
Michael Parsons
Clinical and molecular studies of BRCA1, BRCA2 and PALB2 variants identified in (suspected) Franconi Anemia patients
Amanda Spurdle
Poster Session
with wine & cheese
Rapid Fire - 5 min poster presentations
1. Usability and feasibility testing of a culturally-sensitive decision aid on risk-reducing salpingo-oophorectomy in BRCA pathogenic variant carriers in Malaysia, a multi-ethnic middle-income country in Southeast Asia
Hamizah Sa'at
2. Age related frequency of somatic variants in homologous recombination genes in high grade serous ovarian cancers
Omali Pitiyarachchi
3. DNA methylation editing using CRISPR-SAM system
Mahnaz Hosseinpour
4. Delays, Deferrals and Decliners. Do telehealth appointments allow time to reconsider or create a hurdle for genetic testing?
Jessica Duffy
5. My Research Results: Update on returning clinically actionable genomic secondary findings to participants in research studies
Amanda Willis
6. Pilot study of the utility of CTNNB1 immunohistochemistry to distinguish sporadic and FAP-associated desmoid tumours
Tanya Dwarte
Thursday 1st Sept.: Clinical and Scientific Updates
Clinical and Scientific Updates
Registration
Session 5: The Jeremy Jass Memorial Lecture
Chairperson: John Hopper
Trials and tribulations of colorectal cancer risk assessment in primary care
Jon Emory
Characterizing POLE and POLD1 germline and somatic aetiology in colorectal cancers demonstrating the defective DNA polym
Characterizing POLE and POLD1 germline and somatic aetiology in colorectal cancers demonstrating the defective DNA polymerase proofreading-related tumour mutational signatures
Khalid Mahmood
Genome-wide DNA methylation and somatic mutational landscape resolve the molecular causality of MLH1-deficient colorecta
Genome-wide DNA methylation and somatic mutational landscape resolve the molecular causality of MLH1-deficient colorectal cancer and designate MLH1 epimutation carriers
Eric Joo
Clinicopathological and molecular characteristics of colorectal cancers from people with Serrated Polyposis Syndrome
Shuyi Chai
Morning Tea Break
Session 6
Chairperson: Renea Taylor
Detecting precursor lesions of high grade serous carcinoma in the fallopian tube using a deep-learning model.
Targeting the nucleolar DNA damage response as a therapeutic strategy in high-grade serous ovarian cancer
Elaine Sanij
High throughput discovery of synergistic drug combinations for patients with Low Grade Serous Ovarian cancer
Kathleen Pishas
Evaluating PARP inhibitor combination therapies with high-throughput screens of prostate cancer organoids
Mitchell Lawrence
Lunch Break
Session 7
Chairperson: Laura Forrest
Tackling Barriers to the Implementation of Cancer Genomics: An Implementation Science Primer
Developing evidence for a polygenic breast cancer risk report: Consumers and clinicians' perspectives
Sharne Limb
Evaluation of an online training program on healthcare providers' knowledge and confidence towards personalised cancer r
Evaluation of an online training program on healthcare providers' knowledge and confidence towards personalised cancer risk
Tatiane Yanes
Preferences for a polygenic test to estimate cancer risk in a general Australian population
Sibel Saya
Afternoon Tea Break
Session 8
Chairperson: Lisa Devereux
Patient experiences with Treatment Focused Genetic Testing (TFGT) following breast cancer diagnosis: Implications for ma
Patient experiences with Treatment Focused Genetic Testing (TFGT) following breast cancer diagnosis: Implications for mainstreaming
Alexander Armanios
Evaluation of the Parkville Familial Cancer Centre breast cancer mainstreaming genetic testing program
Catherine Beard
An Australian mainstreaming genetic testing program: Clinicians views about current and future practices.
Emilia Ip
BRCA-P: denosumab as a breast cancer prevention drug for BRCA1 mutation carriers?
Geoff Lindeman
Cocktails by the pool
Friday 2nd Sept.: Clinical and Scientific Updates
Clinical and Scientific Updates.
Registration
Session 9
Chairperson: Milita Zaheed
Genetic predisposition to hematopoietic malignancies
Lucy Godley
Germline predisposition to haematological malignancy – establishment of an Australian diagnostic, research and clinical
Germline predisposition to haematological malignancy – establishment of an Australian diagnostic, research and clinical service
Lucy Fox
Clinical Management of Leukemia Predisposition Syndromes
Comparing resistance mechanisms in end-stage homologous recombination deficient cancers
Liz Christie
Morning Tea Break
Session 10
Chairperson: Georgia Chenevix-Trench
CanRisk: Personalising breast, ovarian and prostate cancer risk prediction for prevention and early detection
Breast cancer predisposition genes in the Australian population: risk and penetrance
Tu Nguyen-Dumont
Using polygenic risk modification to improve breast cancer prevention: the PRiMo Trial, Year One
Paul James
Novel family-based methods for making inference about causation: polygenic risk scores, mammogram risk scores, family hi
Novel family-based methods for making inference about causation: polygenic risk scores, mammogram risk scores, family history and breast cancer at different ages
John Hopper
Breast cancer familial aggregation and polygenic risk score
Shuai Li
Lunch
take away