CHAIR: Lawrence Brody, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
10:15 - 10:35
LECTURE
Resolving ENIGMAtic VUSs, updating VCEPs and helping ClinVar
Amanda Spurdle, PhD, QIMR Berghofer Medical Research Institute,
Brisbane, QLD, Australia
10:35 - 10:55
LECTURE
BRCA Exchange: the one-stop shop for BRCA1/2 variant information
Melissa Cline, PhD, University of California, Santa Cruz, Genomics Institute
Santa Cruz, CA, USA
10:55 - 11:05
PROFFERED PAPER 1 (S1-PP1)
Functional and clinical characterization of BRCA2 hypomorphic missense variants
Fergus Couch, PhD, Mayo Clinic, Rochester, MN, United States
11:05 - 11:15
PROFFERED PAPER 2 (S1-PP2)
CHEK2gether study of the ENIGMA consortium: functional analysis of CHEK2 missense variants identified in breast cancer patients
Petra Kleiblova, MD, PhD, Charles University, Prague, Czechia
11:17 - 11:20
RAPID FIRE POSTER PRESENTATION (S1-RF1)
BRCA1 frameshift variants leading to extended incorrect protein termini
Thales Nepomuceno, PhD, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, United States
11:20 - 11:23
RAPID FIRE POSTER PRESENTATION (S1-RF2)
A comprehensive characterization of missense variants of uncertain significance (VUS) in RAD51C
Jean-Yves Masson, PhD, CHU de Québec-Université Laval Research Center, Québec, QC, Canada
11:25 - 11:45
Question and discussion period (all speakers)
CHAIR: Raymond Kim, MD, PhD, FRCPC, FACMG, Princess Margaret Cancer Centre, Toronto, ON, Canada
13:15 - 13:35
LECTURE
How can molecular pathology of HBOC help the cancer genetics health professional?
Jorge S. Reis-Filho, MD, PhD,FRCPath, Memorial Sloan Kettering Cancer Center, New York, NY, USA
13:35 - 13:55
LECTURE
Non-epithelial ovarian cancers and their associated syndromes
Blaise Clarke, MD, University Health Network, Toronto, ON, Canada
13:55 - 14:05
PROFFERED PAPER 1 (S2-PP1)
The genomic landscape of high grade serous ovarian tumors is defined by loss of BRCA1 and BRCA2 throughout chemoresistance and relapse
Nicole Gull, PhD, Cedars-Sinai Medical Center, Los Angeles, CA, United States
14:05 - 14:15
PROFFERED PAPER 2 (S2-PP2)
Replication stress and defective checkpoints render Fallopian tube epithelial cells as putative driver of high-grade serous ovarian cancer
Shailja Pathania, PhD, University of Massachusetts Boston, Boston, MA, United States
14:17 - 14:20
RAPID FIRE POSTER PRESENTATIONS (S2-RF1)
Improving the diagnosis of serous tubal intraepithelial carcinoma (STIC) using deep-learning
Joep Bogaerts, MD, PhD candidate, Radboud University Medical Center, Nijmegen, The Netherlands
14:205 - 14:23
RAPID FIRE POSTER PRESENTATIONS (S2-RF2)
Chromothripsis and whole genome duplication are both detectable in early-stage high-grade serous carcinoma (HGSC) of upper gynaecological tract; implications for HGSC risk mitigation
Ju-Yoon Yoon, MD, PhD, Unity Health Toronto, Toronto, ON, Canada
14:25 - 14:45
Question and discussion period (all speakers)
MODERATOR: Laura Palma, MSc, CGC, CCGC, McGill University Health Centre, Montréal, QC, Canada
Where to Begin? Implementation & evaluation of the mainstreaming genetic testing model
Jeanna McCuaig, MSc, PhD, Princess Margaret Cancer Centre, Toronto, ON, Canada
Patient understanding and responses to mainstreaming genetic testing
Jada G. Hamilton, PhD, MPH, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Cost-effectiveness and population impact of mainstreaming for breast and ovarian cancer
Ranjit Manchanda, MD, MRCOG, PhD, Wolfson Institute of Population Health, Queen Mary University of London, London, UK