BRCA: Twenty Years of Advances Fifth International Symposium on Hereditary Breast and Ovarian Cancer April 23-25, 2014 Centre Mont-Royal, Montréal Wednesday, April 23, 2014
REGISTRATION & CONTINENTAL BREAKFAST . Foyer 4th Floor Welcome and Introduction to the Programme .Salon Mont-Royal Harley Eisman, MD, Co-Founder, Hereditary Breast and Ovarian Cancer Foundation, Montréal, QC, Canada Words of Introduction: Montréal, McGill and the BRCA Connection . Salon Mont-Royal David Eidelman, Dean, Faculty of Medicine, McGill University, Montréal, QC, Canada Overview of Today’s Sessions .Salon Mont-Royal William Foulkes, MBBS, PhD, Director, Program in Cancer Genetics, McGill University, Montréal, QC, Canada Session 1: Mutations, variants and databases CHAIR: Peter Devilee, PhD, Leiden University Medical Centre, Leiden, The Netherlands 08:15 - 09:45 LECTURE . Salon Mont-Royal The BIC Database: Calm in the center of the storm Lawrence Brody, PhD, National Human Genome Research Institute,
National Institutes of Health, Bethesda, MD, USA
LECTURE . Salon Mont-Royal Variants of unknown significance: from identification to validation Alvaro Monteiro, PhD, H. Lee Moffitt Cancer Center, Tampa, FL, USA PROFFERED PAPER 1 (S1-PP1) . Salon Mont-Royal Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry Eric Rosenthal, PhD, ScM, Myriad Genetic Laboratories Inc., Salt Lake City, UT, USA PROFFERED PAPER 2 (S1-PP2) . Salon Mont-Royal BRCA1 CIRCOS: A visualization resource for functional analysis of missense variants Ankita Jhuraney, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA BRCA: Twenty Years of Advances Wednesday, April 23, 2014 (cont’d) PROFFERED PAPER 3 (S1-PP3) . Salon Mont-Royal CIGMA (Clinical Impact of Genetic Mutation Analysis): A novel variant classification system for cancer predisposition genes Clare Turnbull, MD, PhD, Institute of Cancer Research, London, UK Question and discussion period (all speakers) . Salon Mont-Royal Session 2: Molecular pathology: new data and emerging concepts CHAIR: David Huntsman, MD, PhD, BC Cancer Agency, Vancouver, BC, Canada 10:15 – 11:45 LECTURE . Salon Mont-Royal Molecular pathology of breast cancer in carriers of DNA repair gene mutations Jorge Reis-Filho, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY, USA LECTURE . Salon Mont-Royal On the origin of high grade serous cancers in BRCA1/2 carriers Christopher Crum, MD, Brigham and Women’s Hospital, Boston, MA, USA PROFFERED PAPER 1 (S2-PP1) . Salon Mont-Royal Identification and validation of an anthracycline / cyclophosphamide-based chemotherapy response assay in breast cancer Jude Mulligan, Almac Diagnostics, Craigavon, UK PROFFERED PAPER 2 (S2-PP2) . Salon Mont-Royal Screening formalin fixed and paraffin-embedded (FFPE) archival tissue for mutations in BRCA1/2 – a new paradigm in genetic counseling Anders Bojesen, MD, PhD, Vejle Hospital, Vejle, Denmark PROFFERED PAPER 3 (S2-PP3) . Salon Mont-Royal TBC Question and discussion period (all speakers) . Salon Mont-Royal
LUNCH .Foyer 3rd Floor (one level down)BRCA: Twenty Years of Advances Wednesday, April 23, 2014 (cont’d) Session 3: Clinically relevant advances in molecular genetics
of BRCA1/2 CHAIR: Jorge Reis-Filho, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY, USA 13:15 - 14:45 LECTURE . Salon Mont-Royal Next generation sequencing of BRCA1/2 tumors: what have we learnt? Andrew P. Futreal, PhD, MD Anderson Cancer Center, Houston, TX, USA LECTURE . Salon Mont-Royal Haploinsufficiency for BRCA1 – the key to understanding tissue specificity? David Livingston, MD, Dana-Farber Cancer Institute, Boston, MA, USA PROFFERED PAPER 1 (S3-PP1) . Salon Mont-Royal A novel BRCA1-mRNA splicing complex is required for efficient DNA repair and maintenance of genomic stability Kienan Savage, Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Co. Antrim, UK PROFFERED PAPER 2 (S3-PP2) . Salon Mont-Royal BRCA1 haploinsufficiency compromises the repair of stalled replication forks and increases the risk of genomic instability Shailja Pathania, PhD, Dana-Farber Cancer Institute, Boston, MA, USA PROFFERED PAPER 3 (S3-PP3) . Salon Mont-Royal Chemotherapy depletes intratumoral PARP1 protein in ovarian cancer patients Maud Marques, PhD, Lady Davis Institute, Montréal, QC, Canada Question and discussion period (all speakers) . Salon Mont-Royal
Poster Session 1 POSTER SESSION 1 (WITH REFRESHMENTS) . Foyer 4th Floor Round table: The causes and consequences of the US
Supreme Court ruling on the patenting of genes ROUND TABLE . Salon Mont-Royal MODERATOR: Alvaro Monteiro, PhD, H. Lee Moffitt Cancer Center & Research DISCUSSANTS: Lawrence Brody, PhD, National Human Genome Research Institute, Bethesda, MD, USA; E. Richard Gold, LLM, SJD, McGill University, Montréal, QC, Canada; Robert Cook-Deegan, MD, Duke University, Raleigh, NC, USA Question and discussion period (all speakers) BRCA: Twenty Years of Advances Thursday, April 24, 2014
CONTINENTAL BREAKFAST. Foyer 4th Floor Introduction to the Day’s Proceedings .Salon Mont-Royal 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 Session 4: Management of BRCA1/2 mutation carriers: where are we in 2014? CHAIR: Steven Narod, MD, FRCPC, Canada Research Chair in Breast Cancer, Women’s College Research Institute/University of Toronto, Toronto, ON, Canada 08:15 - 09:45 LECTURE . Salon Mont-Royal Management of the woman at risk Susan Domchek, MD, University of Pennsylvania, Philadelphia, PA, USA LECTURE . Salon Mont-Royal Old and new treatments for hereditary breast and ovarian cancer Judy Garber, MD, Dana-Farber Cancer Institute, Boston, MA, USA PROFFERED PAPER 1 (S4-PP1) . Salon Mont-Royal The impact of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers Kelly Metcalfe, RN, PhD, University of Toronto, Toronto, ON, Canada PROFFERED PAPER 2 (S4-PP2) . Salon Mont-Royal Effect of germ-line BRCA mutations on response to chemotherapy and outcome of recurrent ovarian cancer Tamar Safra, MD, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel PROFFERED PAPER 3 (S4-PP3) . Salon Mont-Royal MRI volumetric analysis of breast fibroglandular tissue to assess risk of the spared nipple in BRCA 1 and BRCA2 mutation carriers John Semple, MD, FRCSC, BSc(AAM), MSc(Path.), FACS, Women's College Hospital, Toronto, ON, Canada Question and discussion period (all speakers) . Salon Mont-Royal BRCA: Twenty Years of Advances Thursday, April 24, 2014 (cont’d) Session 5: Other cancers in carriers: prostate and pancreas CHAIR: George Zogopoulos, MD, PhD, McGill University, Montréal, QC, Canada 10:15 - 11:45 LECTURE . Salon Mont-Royal Making an IMPACT on prostate cancer in BRCA1/2 carriers Rosalind Eeles, FMedSci, PhD, FRCR, FRCP, Institute of Cancer Research, London, UK LECTURE . Salon Mont-Royal BRCA/PALB2 and other genes that increase the risk for pancreatic cancer: problems and approaches Alison Klein, PhD, MHS, Johns Hopkins Medical Institutes, Baltimore, MD, USA PROFFERED PAPER 1 (S5-PP1) . Salon Mont-Royal Effect of BRCA mutations on biochemical relapse and survival after treatment for localized prostate cancer Rosalind Eeles, FMedSci, PhD, FRCR, FRCP, Institute of Cancer Research, London, UK PROFFERED PAPER 2 (S5-PP2) . Salon Mont-Royal The impact of a BRCA2 mutation on mortality from screen-detected prostate cancer Mohammad R. Akbari, MD, PhD, Women's College Research Institute/Dalla Lana School of Public Health, Women's College Hospital/University of Toronto, Toronto, ON, Canada PROFFERED PAPER 3 (S5-PP3) . Salon Mont-Royal Contribution of known and novel BRCA-mediated DNA repair pathway genes to pancreatic cancer susceptibility Alyssa Smith, PhD, Goodman Cancer Research Centre, McGill University, Montréal, QC, Canada Question and discussion period (all speakers)….Salon Mont-Royal
LUNCH .Foyer 3rd Floor (one level down)Session 6: Risk communication CHAIR: Nora Wong, MS, CCGC, Jewish General Hospital, Montréal, QC, Canada 13:15 - 14:45 LECTURE . Salon Mont-Royal Mates & Dates: Communicating with partners about risk Karen Hurley, PhD, Private Practice and Memorial Sloan-Kettering Cancer Center, New York, NY, USA LECTURE . Salon Mont-Royal Mother-child communication of test results: how to, when to, who to tell Andrea Farkas Patenaude, PhD, Dana-Farber Cancer Institute, Boston, MA, USA BRCA: Twenty Years of Advances Thursday, April 24, 2014 (cont’d) PROFFERED PAPER 1 (S6-PP1) . Salon Mont-Royal Access to genetic counseling and BRCA testing among a population-based sample of young black women Tuya Pal, MD, Moffitt Cancer Center, Tampa, FL, USA PROFFERED PAPER 2 (S6-PP2) . Salon Mont-Royal Breast cancer risk estimation methods in a clinic-based cohort of BRCA1/2 mutation carriers Janet Vos, University Medical Center Groningen, Groningen, Netherlands PROFFERED PAPER 3 (S6-PP3) . Salon Mont-Royal Kintalk.org: Helping families communicate their genetic information Megan Myers, University of California, San Francisco, San Francisco, CA, USA Question and discussion period (all speakers) . Salon Mont-Royal Session 7: Special Interest Groups (SIGs) (Participants to choose ONE) SIG 1 . Salon TBC How to reduce mortality following breast cancer in BRCA carriers Steven Narod, MD, FRCPC, Canada Research Chair in Breast Cancer, Women’s College Research Institute/University of Toronto, Toronto, ON, Canada SIG 2 . SalonTBC Variants of unknown significance workshop Lawrence Brody, PhD, National Human Genome Research Institute, Bethesda, MD, USA; Alvaro Monteiro, PhD, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA SIG 3 . Salon TBC Risk assessment in the clinic: improving on the models Antonis Antoniou, PhD, University of Cambridge, Cambridge, UK; Jacques Simard, PhD, Laval University, Québec, QC, Canada SIG 4 . Salon TBC Beyond BRCA1/2: panels, exomes and genomes Marc Tischkowitz, MD, PhD, University of Cambridge, Cambridge, UK; Peter Devilee, PhD, Leiden University Medical Centre, Leiden, The Netherlands; Talia Donenberg, MS, CGC, University of Miami, Miami, FL, USA BRCA: Twenty Years of Advances Thursday, April 24, 2014 (cont’d) Session 8: Tubes and tests TOPIC A . Salon Mont-Royal Removing the fallopian tubes as way to reduce ovarian cancer incidence CHAIR: Marc Tischkowitz, MD, PhD, University of Cambridge, Cambridge, UK DISCUSSANTS: Huntsman, MD, PhD, BC Cancer Agency, Vancouver, BC, Canada; Narod, MD, FRCPC, Canada Research Chair in Breast Cancer, Women’s
College Research Institute/University of Toronto, Toronto, ON, Canada
TOPIC B . Salon Mont-Royal Gene panels for breast and ovarian cancer susceptibility CHAIR: William Foulkes, MBBS, PhD, McGill University, Montréal, QC, Canada DISCUSSANTS: Steven Keiles, MS, CGC, Ambry Genetics, Aliso Viejo, CA, USA; Brian A. Allen, MS, Myriad Genetic Laboratories, Salt Lake City, UT, USA; Nazneen Rahman, MD, PhD, Institute of Cancer Research, London, UK Poster Session 2 POSTER SESSION 2. Foyer 4th Floor BRCA: Twenty Years of Advances Friday, April 25, 2014
CONTINENTAL BREAKFAST. Foyer 4th Floor Introduction to the Day’s Proceedings and Housekeeping .Salon Mont-Royal 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 Session 9: Old genes and new genes for breast and ovarian cancer CHAIR: Patricia N. Tonin, PhD, The Research Institute of the McGill University Health Centre, Montréal, QC, Canada 08:15 - 09:45 LECTURE . Salon Mont-Royal New genes for breast cancer Nazneen Rahman, MD, PhD, Institute of Cancer Research, London, UK LECTURE . Salon Mont-Royal New genes for ovarian carcinoma Elizabeth Swisher, MD, University of Washington, Seattle, WA, USA PROFFERED PAPER 1 (S9-PP1) . Salon Mont-Royal Bi-allelic BRCA1 mutations identified through whole-exome sequencing in a patient with intellectual disability, short stature, microcephaly and early-onset breast cancer Sarah Sawyer, PhD, MD, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada PROFFERED PAPER 2 (S9-PP2) . Salon Mont-Royal PALB2 is a high-risk breast cancer susceptibility gene: A kin-cohort analysis of 154 families Marc Tischkowitz, MD, PhD, University of Cambridge, Cambridge, UK PROFFERED PAPER 3 (S9-PP3) . Salon Mont-Royal Identification and validation of familial breast cancer susceptibility genes using targeted sequencing Ella Thompson, PhD, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Question and discussion period (all speakers) . Salon Mont-Royal Note: Due to unforeseen circumstances, Dr. Charis Eng, Genomic Medicine Institute, Cleveland Clinic, will not be available to present her lecture entitled “PTEN, CDH1, STK11 and TP53: What you need to know in the clinic” which was to have been part of this session. 09:45 - 10:15BRCA: Twenty Years of Advances Friday, April 25, 2014 (cont’d)
Session 10: Whole genome approaches to risk CHAIR: Marc Tischkowitz, MD, PhD, University of Cambridge, Cambridge, UK LECTURE . Salon Mont-Royal Identifying modifiers of penetrance of BRCA1/2 mutations Antonis Antoniou, PhD, University of Cambridge, Cambridge, UK LECTURE Whole exome sequencing for breast cancer susceptibility: the state of play Devilee,
PhD, Leiden University Medical Centre, Leiden, The NetherlandsPROFFERED PAPER 1 (S10-PP1) . Salon Mont-Royal Clinical impact of a multiple gene sequencing panel for hereditary breast cancer families James Ford, MD, Stanford University School of Medicine, Stanford, CA, USA PROFFERED PAPER 2 (S10-PP2) . Salon Mont-Royal Identifying the missing genetic risk in ovarian cancer Ian Campbell, PhD, Peter MacCallum Cancer Centre, East Melbourne, VIC, Australia PROFFERED PAPER 3 (S10-PP3) . Salon Mont-Royal Common genomic variants and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: evidence for a broad modifying effect Paul James, MBChB, DPhil, FRCAP, Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Question and discussion period (all speakers) . Salon Mont-Royal Closing Session: The Marla Miller Memorial Lecture Introductory Remarks . Salon Mont-Royal William Foulkes, MBBS, PhD, Director, McGill University Program in Cancer Genetics, Montréal, QC, Canada LECTURE Breast cancer susceptibility: the knowledge gained and the challenges that remain Douglas Easton, PhD, University of Cambridge, Cambridge, UK Presentation by the Miller Family .Salon Mont-Royal Closing Remarks . Salon Mont-Royal Harley Eisman, MD, Co-Founder, Hereditary Breast and Ovarian Cancer Foundation, Montréal, Québec, Canada
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We’re closing in on the first weekend in April, but I’m not especially looking forward to moving the clocks. Oh, sure, it’s magnificent driving home from work through Rock Creek Park in the daylight. But there’s just something about being awakened by the alarm clock at 4:54 am (and then occasionally re-awakened by the backup alarm clock at 5:01), negotiating my extended quasi-metrosexu