Work Package 2

Data Clinical Laboratory Resources for Genomic Cancer Variant Interpretation

Led by Prof Clare Turnbull at the Institute of Cancer Research, work package 2 aims to utilise national summary-level germline genetic data (collected through work package 1) and develop tools/resources that support NHS laboratories with interpreting results from cancer genetic testing, in accordance with American College of Medical Genetics (ACMG) variant interpretation framework.

The Cancer Variant Interpretation Group has been established to offer an active forum for dissemination of information and sharing of best practice across NHS clinical laboratories, with a regular monthly MDT and ongoing publication of cancer predisposition gene specific guidance/recommendations.

CanVIG-UK is supported by the CanVIG-UK Steering and Advisory Group (CStAG).

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CanVar-UK is a data resource developed specifically for the NHS laboratory community and CanVIG-UK.

The website brings together up-to-date information from a variety of sources to support with variant interpretation.

This includes making available the nationally collected summary level data from work package 1, as well as data from research publications and external repositories (eg gnomAD or ClinVar).

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Meet The Team

Prof Clare Turnbull

Institute of Cancer Research || Work package lead

Prof Richard Houlston

Institute of Cancer Research

Dr Chey Loveday

Institute of Cancer Research || Higher Scientific Officer/Bioinformatician

Dr Charlie Rowlands

Institute of Cancer Research || Bioinformatician

Subin Choi

Institute of Cancer Research || Bioinformatician

Isaac Wade

Institute of Cancer Research || Bioinformatics Data Manager

Dr Alice Garrett

Institute of Cancer Research || Clinical Fellow

Dr Lucy Loong

Institute of Cancer Research || Clinical Fellow

Publications

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

Genetics in Medicine

Published Online First: 06 July 2021.

doi: 10.1038/s41436-021-01265-z

Cankut Cubuk, Alice Garrett, Subin Choi, Laura King, Chey Loveday, Bethany Torr, George J. Burghel, Miranda Durkie, Alison Callaway, Rachel Robinson, James Drummond, Ian Berry, Andrew Wallace, Diana Eccles, Marc Tischkowitz, Nicola Whiffin, James S. Ware, Helen Hanson, Clare Turnbull & CanVIG-UK

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Journal of Medical Genetics

Published Online: 18 November 2020

doi: 10.1136/jmedgenet-2020-107248

Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull, CanVIG-UK

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Journal of Medical Genetics

First published March 13, 2020.

Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull.