Publications

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

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 

Genetics in Medicine

Published Online First: 06 July 2021.

doi: 10.1038/s41436-021-01265-z

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

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

Familial Cancer (2021)

First published 25 June 2021

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

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

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

Genetics in Medicine

First published May 11, 2021https://doi.org/10.1038/s41436-021-01151-8

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

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

Journal of Medical Genetics

Published Online First: 18 November 2020.

doi: 10.1136/jmedgenet-2020-107248

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

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.

Position statement

Journal of Medical Genetics

First published June 22, 2020

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

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

European Journal of Human Genetics

Published12 June 2020

doi: 10.1038/s41431-020-0651-7

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

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.

Position statement

Journal of Medical Genetics

First published March 13, 2020.

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

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

Clinical Cancer Research

Published first March 10, 2020

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

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

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. 

Annals of Oncology

Published online 2019 May 3.

doi: 10.1093/annonc/mdz136

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

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.

Position Statement

Journal of Medical Genetics

First published April 24, 2019