Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

B Meiser; R Kaur; J Kirk; A Morrow; M Peate; WKT Wong; E McPike; E Cops; C Dowson; R Austin; M Fine; L Thrupp; R Ward; F Macrae; JE Hiller; AH Trainer; G Mitchell

Journal article

Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

B Meiser, R Kaur, J Kirk, A Morrow, M Peate, WKT Wong, E McPike, E Cops, C Dowson, R Austin, M Fine, L Thrupp, R Ward, F Macrae, JE Hiller, AH Trainer, G Mitchell

Familial Cancer | SPRINGER | Published : 2020

DOI: 10.1007/s10689-020-00183-4

Abstract

INTRODUCTION: This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians' recommendations of risk management strategies to carriers of pathogenic variants in mismatch repair genes and the extent to which carriers took up strategies in concordance with guidelines. MATERIALS AND METHODS: Clinic files of 464 carriers (with and without colorectal cancer) were audited for carriers who received their genetic testing results in July 2008-July 2009 (i.e. before guideline release), July 2010-July 2011 and July 2012-July 2013 (both after guideline release) at 12 familial cancer clinics (FCCs) to ascertain the extent to which carriers were informed abou..

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University of Melbourne Researchers

Michelle Peate Author Obstetrics and Gynaecology Royal Women's Hospital/Mercy

Alison Trainer Author Medicine - Royal Melbourne Hospital

Gillian Mitchell Author Medicine - St Vincent's Hospital

Tom John Author The Sir Peter MacCallum Department of Oncology

Martin Delatycki Author Melbourne School of Population and Global Health

Grants

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by Strategic Research Partnership Grant from the Cancer Council of New South Wales

Funding Acknowledgements

We are very grateful to the participants in this research. Bettina Meiser is supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B (ID 1078523). Michelle Peate is supported by a University of Melbourne MDHS Research Fellowship. This study was funded by a Strategic Research Partnership Grant (SRP 13-02) from the Cancer Council of New South Wales. ICCon Audit Study Collaborative Group: The additional members of the Inherited Cancer Connect (ICCon) Audit Study Collaborative Group are: Genetic Health Queensland (R. Susman); Genetics Services Western Australia (N. Pachter); Liverpool Hospital (A. Goodwin); Peter MacCallum Cancer Centre (P. James, L. Mascarenhas, C. Morton, S. Shanley, M.A. Young); Peter MacCallum Cancer Centre (P. James, L. Mascarenhas, C. Morton, S. Shanley, M.A. Young); Prince of Wales Hospital (L. Andrews, E.A. Morrow, K. Tucker); Royal Melbourne Hospital (P. James, G. Lindeman, L. Mascarenhas, C. Morton); Royal North Shore Hospital (M. Field); Royal Prince Alfred (A. Goodwin); South Australian Clinical Genetics Services (M. Monnik, N. Poplawski); Austin Hospital (M. Delatycki, T. John); Monash Health (M. Harris) and UNSW Sydney (R. Kerr, B. Vora).