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Article History

Received: 23 February 2020

Revised: 10 June 2020

Accepted: 24 August 2020

First Online: 7 October 2020

Ethics approval and consent to participate

: All cases were ethically approved by the local Institutional Review Boards (REC approval reference numbers; HREC/RPAH/444, 16/CEN/149, 10362, 11/NE/0312, HREC 2005/022 and 16/CEN/149 for the six participating academic centres), as well as by the Sanger Institute’s human materials and data management committee. All patients provided written informed consent in accordance with the Declaration of Helsinki. All samples and clinical details are listed in Supplementary Table .

: All the whole-exome and targeted sequencing data (including raw sequencing files, variant calls and copy number calls) have been deposited at the European Genome-Phenome Archive ( at the EBI) under study accession ID EGAS00001002107.

: G.V.L. is consultant advisor to Amgen, Aduro, Array, BMS, MERCK, Novartis, Roche and Pierre-Fabre. R.A.S. has received fees for professional services from MSD, BMS, Novartis, Myriad and NeraCare. D.J.A. is a consultant for Microbiotica. All other authors report no conflicts of interest.

: This work was supported by Cancer Research UK and the Wellcome Trust, NHMRC Program Funding to S.R.L. (APP1113867) and NHMRC Program Funding to R.A.S. and G.V.L. (APP1093017). R.A.S. and G.V.L. are supported by NHMRC Practitioner Fellowships. G.V.L. is supported by the University of Sydney Medical Foundation. The funders/sponsors had no role in the design and conduct of the study; collection, management, analysis and interpretation of the data; preparation, review or approval of the manuscript and decision to submit the manuscript for publication.