Posters – Ambry Genetics

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Applying a PS4 likelihood ratio methodology (LR-Calc) for integrating enriched case data from national laboratory testing (NHS GLH Laboratories, Ambry Genetics) into large-scale case-control analyses

General
Oncology

Date:
Thursday, Jun 12, 2025 6:10pm – 7:10pm

Conference:
CCG 2025

Authors:
Alice Garrett, Alison Callaway, Bethan Frugtniet, Charlie F. Rowlands, Clare Turnbull, Fergus Couch, Fiona E. McRonald, George J. Burghel, Helen Hanson, Joanne Field, Jonathan Grant, Jo Pethick, Judith Pagan, Katie Snape, Katrina Lavelle, Marcy E. Richardson, Miranda Durkie, Rachel Robinson, Sally Vernon, Sheila Palmer-Smith, Sophie Allen, Steven Hardy, Terri McVeigh, Tina Pesaran, MA, MS, CGC, Trudi McDevitt

Collaborators:

Cardiff University
Mayo Clinic
Nottingham University Hospitals NHS Trust
Royal Devon and Exeter NHS Foundation Trust
Royal Marsden NHS Foundation Trust
Sheffield Children's NHS Foundation Trust
St George's University Hospitals NHS Foundation Trust
The Institute of Cancer Research, Sutton
The Leeds Teaching Hospitals NHS Trust
University of Exeter Medical School
University of Southampton

Abstract Poster
Quantifying phenotypic specificity (PP4) of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer

Oncology

Date:
Thursday, Jun 12, 2025 6:10pm – 7:10pm

Conference:
CCG 2025

Authors:
Alice Garrett, Alison Callaway, Avgi Andreou, Bethan Frugtniet, Carrie Horton, Charlie F. Rowlands, Clare Turnbull, Eamonn R. Maher, George J. Burghel, Helen Hanson, Joanne Field, Jonathan Grant, Judith Pagan, Katie Snape, Marcy Richardson, Miranda Durkie, Rachel Robinson, Samantha Butler, Sheila Palmer-Smith, Sophie Allen, Terri McVeigh, Tina Pesaran, MA, MS, CGC, Trudi McDevitt

Collaborators:

Birmingham Women's and Children's NHS Foundation Trust
Cardiff University
Institute of Cancer Research, London
Manchester University NHS Foundation Trust
Nottingham University Hospitals NHS Trust
Queen Elizabeth University Hospital
Royal Devon and Exeter NHS Foundation Trust
Royal Marsden NHS Foundation Trust
Sheffield Children's NHS Foundation Trust
St George's University Hospitals NHS Foundation Trust
The Leeds Teaching Hospitals NHS Trust
University of Cambridge
University of Exeter Medical School
University of Southampton

Abstract Poster
Current work of the APC subcommittee of the InSiGHT – ClinGen Hereditary CRC / Polyposis Variant Curation Expert Panel: Interpretation of selected APC variants based on the APC-specific ACMG/AMP variant classification criteria

General
Oncology

Date:
Friday, Jun 21, 2024 10:05am – 11:05am

Conference:
InSiGHT 2024

Authors:
Alexandra Martins, Andreas Laner, Andrew Latchford, Carli Tops, Deborah Ritter, Elisabet Ognedal, Emily Nadeau, Ester Borras, Finlay A Macrae, Gabriel Capellá, Ian M Frayling, Isabel Spier, Julie Boyle, Karl Krahn, Khalid Mahmood, Marc S Greenblatt, Marcy E. Richardson, Margareta Nordling, Marta Pineda, Maurizio Genuardi, Pilar Mur, Sean V. Tavtigian, Sharon E. Plon, Stefan Aretz, Thomas v O Hansen, Tina Pesaran, MA, MS, CGC, Valeria Vasta, Victoria Beshay, Xiaoyu Yin, Xuemei Shi

Collaborators:

Baylor College of Medicine
Cardiff University
Catalan Institute of Oncology
Copenhagen University Hospital
GeneDx
Greenwood Genetic Center
Haukeland University Hospital
Imperial College London
Invitae Corporation
Leiden University Medical Center
Linköping University
Medical Genetics Center Munich
Peter MacCallum Cancer Centre and Royal Melbourne Hospital
Royal Melbourne Hospital
Texas Children's Hospital
Universita Cattolica del Sacro Cuore
University Hospital Bonn
University of Melbourne
University of Utah
University of Washington

Abstract Poster