Publications

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)

Genetics in Medicine

Published Online First: 03 June 2022.

doi: https://doi.org/10.1016/j.gim.2022.05.002

Lucy Loong, Alice Garrett, Sophie Allen, Subin Choi, Miranda Durkie, Alison Callaway, James Drummond, George J. Burghel, Rachel Robinson, Beth Torr, Ian R. Berry, Andrew J. Wallace, Diana M. Eccles, Sian Ellard, Emma Baple, D. Gareth Evans, Emma R. Woodward, Anjana Kulkarni, Fiona Lalloo, Marc Tischkowitz, Anneke Lucassen, Helen Hanson, Clare Turnbull, on behalf of the CanVIG-UK

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Genetics in Medicine

Published Online First: 30 November 2021.

doi: https://doi.org/10.1016/j.gim.2021.11.011

Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull on behalf of the CanVIG-UK

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

Genetics in Medicine

Published Online First: 30 November 2021.

doi: https://doi.org/10.1016/j.gim.2021.08.004

Alice Garrett, Chey Loveday, Laura King, Samantha Butler, Rachel Robinson, Carrie Horton, Amal Yussuf, Subin Choi, Beth Torr, Miranda Durkie, George J. Burghel, James Drummond, Ian Berry, Andrew Wallace, Alison Callaway, Diana Eccles, Marc Tischkowitz, Katrina Tatton-Brown, Katie Snape, Terri McVeigh, Louise Izatt, Emma R. Woodward, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Francesco Mazzarotto, Nicola Whiffin, James Ware, Helen Hanson, Tina Pesaran, Holly LaDuca, Alexandre Buffet, Eamonn R. Maher, Clare Turnbull & CanVIG-UK 

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 First: 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

Position statement

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.

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice 

Journal of Medical Genetics

First published March 8 2022

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doi: 10.1136/jmedgenet-2021-108355

Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher, on behalf of UK Cancer Genetics Centres

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine

First published May 11, 2021

https://doi.org/10.1038/s41436-021-01151-8

Marc Tischkowitz, Judith Balmaña, William D. Foulkes, Paul James, Joanne Ngeow, Rita Schmutzler, Nicoleta Voian, Myra J. Wick, Douglas R. Stewart, Tuya Pal, and ACMG Professional Practice and Guidelines Committee

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Familial Cancer (2021)

First published 25 June 2021

DOI https://doi.org/10.1007/s10689-021-00264-y

Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn C. J. Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group & Expert Network Members

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

Position statement

Journal of Medical Genetics

First published June 22, 2020

Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, Gareth Evans, & Consensus Group Members.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

European Journal of Human Genetics

Published12 June 2020

doi: 10.1038/s41431-020-0651-7

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group & The European Reference Network GENTURIS

Small Cell Carcinoma of the Ovary, Hypercalcaemic Type - genetics, new treatment targets and current management guidelines

Clinical Cancer Research

Published first March 10, 2020

doi: 10.1158/1078-0432.CCR-19-3797

Marc Tischkowitz, Sidong Huang, Susana Banerjee, Jennifer Hague, William P.D. Hendricks, David G. Huntsman, Jessica D Lang, Krystal A Orlando, Amit M Oza, Patricia Pautier, Isabelle Ray-Coquard, Jeffrey M Trent, Michael Wichter, Leora Witkowski, W. Glenn McCluggage, Douglas A Levine, William D. Foulkes and Bernard E. Weissman

Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group

Annals of Oncology

Published online 2019 May 3.

doi: 10.1093/annonc/mdz136

Mandelker D, Donoghue MTA, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. 

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).

Position Statement

Journal of Medical Genetics

First published April 24, 2019

Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.