CHAIR: Lawrence Brody, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
10:15 - 10:35
Lecture
Variant interpretation in the genomic era
Jonathan Berg, MD, UNC School of Medicine, Chapel Hill, NC, USA
10:35 - 10:55
Lecture
Functional classification of HRD gene variant using CRISPR screens
Lea Starita, PhD, University of Washington, Seattle, WA, USA
10:55 - 11:05
Proffered paper 1 (S1-PP1)
A VarCall Model for Classification of BRCA2 Variants Using Mouse Embryonic Stem Cells-based Functional Assays
Shyam Sharan, Ph.D, National Cancer Institute, NIH, Frederick, MD, USA
11:05 - 11:15
Proffered paper 2 (S1-PP2)
Germline Variants of 219 Genes in 1333 Ovarian Cancer Patients
Dr. Jana Soukupova, PhD, Charles University, Prague, Czech Republic
11:15 - 11:25
Proffered paper 3 (S1-PP3)
Variants of Low Allele Fraction in Panel Testing, Where Are They Coming From?
Raymond Kim, MD, PhD, FRCPC, FACMG, Princess Margaret Cancer Centre, Toronto, ON, Canada
11:25 - 11:45
Question and discussion period (all speakers)
CHAIR: Blaise Clarke, MD, University Health Network, Toronto, ON, Canada
12:45 - 13:05
Lecture
Breast cancer susceptibility genes, pathology and outcome
Marjanka Schmidt, PhD, Netherlands Cancer Institute, Amsterdam, and Leiden University Medical Center, Leiden, The Netherlands
13:05 - 13:25
Lecture
Where do ovarian cancers originate and why does it matter?
Christopher Crum, MD, Brigham and Women's Hospital, Boston, MA, USA
13:25 - 13:35
Proffered paper 1 (S2-PP1)
Mechanisms That Impact the Cell Division Axis and Phenotype for BRCA1-mutant Mammary Epithelial Cells
Zhengcheng He, BSc., University of British Columbia, Vancouver, BC, Canada
13:35 - 13:45
Proffered paper 2 (S2-PP2)
Transcriptome-Based Profiles of Immune Cell Infiltration in BRCA1/2-Positive and BRCA1/2-Negative Male Breast Cancers
Valentina Silvestri, MSc., PhD, Sapienza University of Rome, Rome, Italy
13:45 - 13:55
Proffered paper 3 (S2-PP3)
Molecular and Genetic Characterisation of Contralateral Breast Cancer (CBC): The Importance of CBC Risk Stratification and Management
Colin McIlmunn, MB BCh, Queen's University Belfast, Belfast, Northern Ireland
13:55 - 14:15
Question and discussion period (all speakers)
CHAIR: Britta Weigelt, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA
14:45 - 15:05
Mutational profiles - New approaches to genetic diagnosis and treatment
Serena Nik-Zainal, MD, PhD, University of Cambridge, Cambridge, UK
15:05 - 15:25
DNA Repair – Clinical relevance for breast cancer/ovarian cancer
Ralph Scully, MBBS, PhD, Beth Israel Deaconess Medical Center, Boston, MA, USA
15:25 -15:35
Proffered paper 1 (S3-PP1)
Variation in the Functional Effects of Different Protein Truncating Mutations in BRCA1 and BRCA2 in Breast and Fallopian Tube Epithelial Cells
Simon Gayther, Cedars Sinai Medical Center, Los Angeles, CA, USA
15:35 - 15:45
Proffered paper 2 (S3-PP2)
Germline Genetic Testing Combined with Tumor Sequencing Has Significant Utility for Breast and Ovarian Cancer Patients
Sarah Nielsen, Invitae, San Francisco, CA, USA
15:45 - 15:55
Proffered paper 3 (S3-PP3)
Etiologic Index: A Case-only Measure of BRCA1/2-associated Cancer Risk
Paz Polak, Mount Sinai Hospital, New York, NY, USA
15:55 - 16:15
Question and discussion period (all speakers)