Welcome, thanks, housekeeping – Mandy, Maaike Arcangela and Paolox2 (slides 1, slides 2 – presentation 1, presentation 2).

Update – ClinGen Hereditary Breast Ovarian Pancreatic Cancer Variant Curation Expert Panel. PALB2 manuscript, ATM spec alignment, Progress on CHEK2 rules – Marcy Richardson (slides – presentation)

Update – ClinGen ENIGMA BRCA1/2 Variant Curation Expert Panel Progress; old classifications using new rules, priority classifications for ClinVar variants etc – Johanna Hadler (slides – presentation)

BRCA Exchange updates – Melissa Cline (slides – presentation)

ClinGen Low penetrance terminology/reporting and white paper recommendations – Mandy Spurdle (slides – presentation)

Introduction – Kyriaki Michailidou and David Goldgar (slides–presentation)

New datasets – China Kadoorie Biobank – Christiana Kartsonaki Analytical Working Group – ongoing analyses (slides–presentation)

VAF for pathogenicity – Bingjian Feng (slides-presentation)

ccLR updates for ATM, CHEK2, PALB2 and TP53 – Damianos Michaelides (slides–presentation)

A statistical likelihood-ratio methodology for integrating enriched case data from national laboratory testing within large-scale case-control analyses (PS4) Sophie Allen (slides–presentation)

Case-control evidence for atypical risk – Maria Zanti (slides–presentation)

Fanconi phenotype as a predictor of pathogenicity – standard or atypical risk – Amanda Spurdle (slides–presentation)

Population data for reduced penetrance variants – Sam Cotton (slides–presentation)

Updates on Confluence Analytical issues to discuss: Effect of merged families on seg scores/penetrance Modelling for PRS Examples – Michael Parsons, Kyriaki Michailidou (slides–presentation)

Brief welcome and project updates. The Vocabulary Translation Project – Updated recommendations for reporting germline variants in cancer susceptibility genes and their translation into 20 languages – Arcangela De Nicolo (slides–presentation)

BRCA2 c.8351G>A p.(Arg2784Gln): a variant with reduced penetrance? Final update – Encarna Gomez-Garcia (slides–presentation)

Clinical and molecular studies of BRCA1, BRCA2, PALB2 variants identified in Fanconi Anemia patients – update on HPO aspects – Amanda Spurdle (slides–presentation)

Reduced/atypical penetrance project – the CWG survey – Arcangela De Nicolo (slides–presentation)

CHEK2 and hematological diseases (new study description and preliminary data) – Encarna Gomez-Garcia, Zdenek Kleibl and Petra Kleiblova (slides–presentation)

Co-occurrence of germline PALB2 and BRIP1 pathogenic variants and implications for genetic counselling and clinical management: a case report – Mara Colombo (slides–presentation)

The national landscape of cancer predisposition in Australia: an overview of carrier data submitted to the Inherited Cancer Connect (ICCon) Database – Paul James (slides–presentation)

The DNA Screen Study: a nationwide pilot of population genomic screening in Australia – Melissa Southey (slides–presentation)

Population BRCA1 and BRCA2 screening: a Latvian pilot – Zanda Daneberga (slides–presentation)

Increasing access to genetic services: an update on the MD Anderson Cancer Center program for underserved communities – Banu Arun (slides–presentation)

African Oncogenetics Network: making sense of the sequence – Funmi Olopade (slides–presentation)

Welcome – Maaike/Zdenek (slides–presentation)

Update CHEK2gether – Zdenek Kleibl (slides–presentation)

Non-canonical functions of p53 – Lisa Wiesmüller (please contact the speaker for information)

TP53 hypomorphs – Libor Macurek (slides–presentation)

RAD51D – Fergus Couch (please contact the speaker for information)

Leveraging Saturation Mutagenesis and PARP Inhibitor Response to Assess the Deleteriousness of RAD51C Variants – Jacques Simard (slides–presentation)

Clinical relevance of in vitro and in silico analyses for variants of uncertain significance in six BRCA2-related cancer types – Tatsuki Yamazoe/ Yukihide Momozawa (slides–presentation)

Development and validation of a quantitative protein-protein interaction assay for the functional characterization of gene variants: a possible tool for the analysis of small in-frame deletions, insertions and indels – Laura Caleca (slides–presentation)

Other projects and where to next – Maaike Vreeswijk (slides–presentation)

Introductory comments – Fergus Couch / Clare Turnbull (slides–presentation)

Hypomorphic variants (Reduced Function/Penetrance) – Phoebe Dace (slides–presentation)
Hypomorphic variants (Reduced Function/Penetrance) – Fergus Couch (please contact the speaker for information)

Combining Assays/MAVES  
– BRCA2: Fergus Couch (please contact the speaker for information)
– TP53: Sujatha/Charlie/Jeff Calhoun/Moez Dawood (slides–presentation)
– BRCA1 and BRCA2: Alvaro Monteiro (slides–presentation)
– CHEK2: Daniel Zimmerman (slides–presentation)

How to approach clinical validation/calibration (Survey results) – Clare Turnbull, Mandy Spurdle (slides–presentation)

Welcome – Sara and Logan (slides)

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact – Daffodil Canson (slides–presentation)

Unveiling the dual impact of alternative splicing by functional characterization of spliceogenic BRCA1 variants – Romy Mesman (slides–presentation)

Application of construct-based splicing assay data for clinical variant interpretation – George Wiggins (slides-presentation) / Daffodil Canson (slides–presentation)

Project proposal discussion – incomplete splicing / thresholds / hypomorphs Led by Sara, Miguel and Logan (slides–presentation)

Long-read RNASeq kConfab (presentations)
Introduction – Mads Thomassen (slides)
Bioinformatics: methods and challenges – Paula Rofes Terrón (slides)
Update of results from analyses – Louise Adel Jensen (slides)

Project 7 extension ATM – Ada Esteban-Sánchez (slides–presentation)

Project 7 extension – CHEK2 – a project update and call for data – Petra Kleiblova (slides–presentation)

BRCA1 Δ11q splicing variants: Update on Project – Lidia Feliubadaló / Sara Gutiérrez-Enríquez (slides–presentation)

Hypomorphic variant BRCA1 c.5407-25T>A – Magan Trottier (slides–presentation)

Closing remarks/new projects – Sara / Logan (presentation)

ENIGMA HRD project overview – Mads Thomassen (slides–presentation)

HRD as evidence type for classification of BRCA1/2 variants – stage I: analysis of published data – Simon Schnaiter (slides–presentation)

Evaluation of different WGS based HRD algorithms for prediction of treatment response and variant classification in ovarian cancer – Inge Søkilde Pedersen (slides–presentation)

Genomic instability score in ovarian cancer as a predictor of pathogenicity – Arjen Mensenkamp (slides–presentation)

Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification – Amanda Spurdle ( slides–presentation)

RAD51 assay as biomarker for functional HR: Progress update – Joanna Domenech Vivo / Sara Gutierrez-Enriquez (slides–presentation)

Histopathology characteristics as predictors of pathogenicity in breast cancer susceptibility genes – Dimitra Christaki / Kyriaki Michailidou (slides–presentation)