v2.2 (version history)
CanVar-UK datasets

REGISTER
CanVar-UK dataset summary

For selected genes, CanVar-UK presents data from the below functional assays, splicing assays and multifactorial genetic epidemiology studies. The applicable evidence strengths for assay readouts under the PS3 and BS3 ACMG criteria can be viewed here.

We aim to include key publications for selected genes, however this is not an exhaustive collection of all available datasets; to request the addition of a functional, splicing or genetic epidemiology dataset of interest, please email us at CanVIG@icr.ac.uk.

Functional datasets
Publication Year PMID # variants
BRCA1
Bouwman et al. 2020 32546644 288
Fernandes et al. 2019 30765603 398
Petitalot et al. 2019 30257991 90
Findlay et al. 2018 30209399 3893
Starita et al. 2018 30219179 1093
Bouwman et al. 2013 23867111 86
BRCA2
Hu et al. 2024 38417439 510
Hu et al. 2022 35736817 144
Richardson et al. 2021 33609447 275
Biswas et al. 2020 33293522 101
Ikegami et al. 2020 32444794 283
Hart et al. 2019 29884841 229
Mesman et al. 2019 29988080 43
Guidugli et al. 2018 29394989 139
MLH1
Drost et al. 2019 30504929 38
Drost et al. 2010 20020535 26
MSH2
Jia et al. 2021 33357406 5872
Drost et al. 2019 30504929 35
Drost et al. 2012 22102614 25
MSH6
Drost et al. 2012 22102614 20
PTEN
Mighell, Evans-Dutson & O'Roak 2018 29706350 2786
TP53
Giacomelli et al. 2018 30224644 8258
Kato et al. 2003 12826609 2320
Splicing assay datasets
Publication Year PMID # variants
BRCA1
Walker et al. 2013 23893897 252
Houdayer et al. 2012 22505045 113
BRCA2
Walker et al. 2013 23893897 194
Houdayer et al. 2012 22505045 159
Multiple genes
Wai et al. 2020 32123317 99
Wessex Clinical Genetics Service N/A N/A 112
Multifactorial genetic epidemiology studies
Publication Year PMID # variants
BRCA1
Li et al. 2020 31853058 1302
Parsons et al. 2019 31131967 523
Vallée et al. 2012 21990165 113
Easton et al. 2007 17924331 105
BRCA2
Parsons et al. 2019 31131967 872
Vallée et al. 2012 21990165 104
Easton et al. 2007 17924331 88