HBOC-VUS WORKSHOP  |  June 28-30, 2022

Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, the Netherlands

Functional Analysis of Sequence Variants in
Hereditary Breast and Ovarian Cancer Genes

Future perspective on variant classification in cancer risk prediction and precision oncology

 

 

 

 

 

The VUS workshop is aimed to bring together an outstanding and diverse group of clinicians and scientists to cover the most up-to-date advances in the field of Variants of Uncertain Significance (VUS) in Hereditary Breast and Ovarian Cancer (HBOC). Topics will include clinical utility and future perspective of HBOC genes, (high throughput) functional analysis of variants in HBOC genes, mechanisms of tumorigenesis related to HBOC genes, identification of tumor vulnerabilities, predicting therapy response and synthetic lethality and resistance mechanisms related to therapy.

Organizers: Haico van Attikum, Maaike Vreeswijk, Jos Jonkers, Arne N. Kousholt, Peter Bouwman

Deadlines:
The deadline for abstract submission is extended to May 24th, 2022

Registration: June 1st, 2022

Registration fee:
€ 275 which includes lunch, snacks, drinks and dinners as indicated in the program.

Additional information VUS workshop

PDF of provisional program 

Provisional Program

Day 1 – Tuesday June 28

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14:00 – 14:30

General Introduction

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14.30 – 17.45

SESSION 1: HBOC genes, current status, clinical utility and future perspective

14:30 – 14:55
Doug Easton  | Breast and ovarian cancer susceptibility genes

14:55 – 15:20
Jacques Simard  | WES-based identification of HBOC genes/variants

15:20 – 15:40
Selected abstract  |  TBA

15:40 – 16:05
Mandy Spurdle  | Variant classification

16:05-16:30 Tea break

16:30 – 16:55
Arjen Mensenkamp | The Dutch CRAFT experience – implementation of functional tests in clinical diagnostics

16:55 – 17:20
Clare Turnbull  | CanVIG-UK: an inter-disciplinary national network for improving variant classification 

17 20 – 17:45
Diana Eccles | Clinical utility of current knowledge

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17.45 - 19.15

Poster session – drinks

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19.15

Dinner

Day 2 – Wednesday June 29

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09.00 – 17:00

SESSION 2: Functional analysis of variants

I: Single variant analysis

9:00 – 9:25
Fergus Couch  |  RAD51C / RAD51D

9:25 – 9:50
Arne Nedergaard  |  BRIP1

9:50 – 10:15
Zdenek Kleibl  |  CHEK2

10:15 – 10:35
Maaike Vreeswijk  | Functional analysis of variants affecting RNA splicing  

10:35 – 10:55
Selected abstract | TBA

10:55-11:30 Coffee break

II: High throughput functional analysis of variants (technology, model systems)

11:30 – 11:55
Greg Findlay  | Saturation Genome Editing of BRCA1

11:55 – 12:20
Haico van Attikum  | High-throughput analysis of PALB2 variants and their associated cancer risk

12:20 – 12:45
Selected abstract  |  TBA

12:45-13:45 Lunch

13:45 – 14:10
Fritz Roth  |  CHEK2 high throughput

14:10 – 14:35
Zhenya Ivakine  |  BRCA2 variants via saturation prime editing

14:35 – 15:00
Claus Sørensen  |  Variant analysis in HBOC genes

15:00 – 15:20
Selected abstract  | TBA

15:20 – 15:40
Selected abstract | TBA

15:40-16:05 Tea break

16:05-17:00
Discuss future of variant classification; Towards the clinical implementation of functional data into clinical decision making

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17.00 - 18.30

Poster session – drinks

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19.00

Dinner

Day 3 – Thursday June 30

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09.00 – 11.00

SESSION 3: Mechanisms of tumorigenesis related to HBOC genes

9:00 – 9:25
Jo Morris | What underlies the synthetic lethality between BRCA1/2 loss and Polymerase Theta inhibition

9:25 – 9:50
Marcel van Vugt | PARP inhibition: cellular responses and biomarkers of efficacy

9:50 – 10:15
Alex Sartori | Defining the CtIP C-terminal domain as a critical module in genome maintenance

10:15 – 10:40
Bing Xia | Mechanisms of PALB2-associated tumorigenesis

10:40 – 11:05
Alan D’Andrea | Determinants of DNA repair pathway choice

11:05-11:30 Coffee break

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11.30 - 15:15

SESSION 4: Identification of tumor vulnerabilities, predicting therapy response

11:30 – 11:55
Helen Davies | Mutational signatures of HR deficiency

11:55 – 12:20
Susan Domchek | BRCA1/2-directed therapies

12:20 – 12:45
Jos Jonkers | Mouse models / therapy response

12:45-13:45 Lunch

13:45 – 14:10
Violeta Serra |  HR deficiency as prognostic tool in therapy

14:10 – 14:35
Edwin Cuppen | Pan-cancer mutational characteristics and HR deficiency

14:35 – 14:55
Selected abstract | TBA

14:55 – 15:15
Selected abstract | TBA

15:15-15:45 Coffee break

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15.45 – 18.45

SESSION 5: Synthetic lethality and resistance mechanisms related to therapy

15:45 – 16:10
Arnab Ray Chaudhuri | Modulating replication stress response as a vulnerability to target BRCA2 deficient tumors

16:10 – 16:35
Ross Chapman | DSB repair and cancer therapy

16:35 – 17:00
Sharon Cantor |  PARPi-based mechanisms

17:00-17:30 Drinks

17:30 – 17:55
Bert van de Kooij |  Synthetic lethality and BRCA1 deficiency

17:55 – 18:20
Raphel Ceccaldi | Studying new vulnerabilities in PARP inhibitor resistant, BRCA-mutated tumors

18:20 – 18:45
Sven Rottenberg | DSB repair and PARPi-resistance mechanisms

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18.45 - 19.00

Closing session