Tuesday, May 4, 2021
8:30 - 9:45   
9:45 - 10:15

Welcome and Introduction to the Programme

Harley Eisman, MD, Co-Founder, Hereditary Breast and Ovarian Cancer Foundation, Montréal, QC, Canada

William Foulkes, MBBS, PhD, Director, Program in Cancer Genetics, McGill University, Montréal, QC, Canada

Mutations, variants, databases
10:15 - 11:45

CHAIR: Lawrence Brody, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

10:15 - 10:35

Variant interpretation in the genomic era

Jonathan Berg, MD, UNC School of Medicine, Chapel Hill, NC, USA

10:35 - 10:55

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)

11:45 - 12:45  
Pathology – Clinical relevance
12:45 - 14:15

CHAIR: Blaise Clarke, MD, University Health Network, Toronto, ON, Canada

12:45 - 13:05

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

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)


14:15 - 14:45  

Applied functional and computational genetics
14:45 - 16:15

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)

16:15 - 17:45