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Work Package 3

Dynamic Evidence-based Clinical Guidance

Through work package 3, our Clinical Genetics consultants have dedicated time to developing evidence-based clinical guidelines and establishing initiatives to support sharing of best practice amongst the clinical cancer genetics community. An often under-resourced area of work, the outputs from this work package are ensuring that those identified to be at high risk of developing cancer are receiving the best possible interventions and care across the UK.

Cancer Genetics MDT

The National Cancer Genetics MDT (UKCGG National CGM) is a collaboration between the CanGene-CanVar Programme and the UK Cancer Genetics Group (UKCGG), which aims to create a regular national forum to discuss complex cancer genetics cases, improve patient management and expand clinical knowledge. 

Clinical Guidelines

The team have identified where there are current gaps in clinical guidance for cancer susceptibility genes and are actively working with external collaborators (UK, Europe and worldwide), the Clinical Guidelines Group representing all areas of the UK, and patients and their families to produce evidence-based, nationally-agreed clinical guidelines.

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A national repository of clinical guidelines established by the work package 3 team can be found on the UKCGG website.

Meet The Team

Publications

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.

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