Brcasymposium.ca

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 . Salon TBC
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 - 10:15 BRCA: 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 Netherlands PROFFERED 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

Source: http://www.brcasymposium.ca/pdfs/Symposium%20Agenda_BRCA2014.pdf

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