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.
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 | CanVIG-UK validations |
|---|---|---|---|---|
| ATM | ||||
| Lee et al. | 2025 | 40580951 | 29352 | N |
| BAP1 | ||||
| Waters et al. | 2024 | 38969833 | 7557 | Y |
| BARD1 | ||||
| Woo et al. | 2025 | 41282735 | 6339 | N |
| BRCA1 | ||||
| Dace et al. | 2025 | Preprint | 3526 | N |
| Bouwman et al. | 2020 | 32546644 | 288 | N |
| Fernandes et al. | 2019 | 30765603 | 398 | N |
| Petitalot et al. | 2019 | 30257991 | 90 | N |
| Findlay et al. | 2018 | 30209399 | 3893 | Y |
| Starita et al. | 2018 | 30219179 | 1093 | N |
| Bouwman et al. | 2013 | 23867111 | 86 | N |
| BRCA2 | ||||
| Huang et al. | 2025 | 39779857 | 6959 | Y |
| Sahu et al. | 2025 | 39779848 | 6551 | Y |
| Hu et al. | 2024 | 38417439 | 510 | N |
| Hu et al. | 2022 | 35736817 | 144 | N |
| Richardson et al. | 2021 | 33609447 | 275 | N |
| Biswas et al. | 2020 | 33293522 | 101 | N |
| Ikegami et al. | 2020 | 32444794 | 283 | N |
| Hart et al. | 2019 | 29884841 | 229 | N |
| Mesman et al. | 2019 | 29988080 | 43 | N |
| Guidugli et al. | 2018 | 29394989 | 139 | N |
| CDKN2A | ||||
| Kimura et al. | 2025 | 40238651 | 1377 | N |
| CHEK2 | ||||
| Gebbia et al. | 2024 | 39642869 | 4878 | N |
| McCarthy-Leo et al. | 2024 | 39146382 | 4887 | N |
| Stolarova et al. | 2023 | 37449874 | 429 | N |
| MLH1 | ||||
| Bouvet et al. | 2019 | 30998989 | 44 | N |
| Drost et al. | 2019 | 30504929 | 38 | N |
| Drost et al. | 2010 | 20020535 | 26 | N |
| Publication | Year | PMID | # variants | CanVIG-UK validations |
|---|---|---|---|---|
| MSH2 | ||||
| Jia et al. | 2021 | 33357406 | 5872 | N |
| Bouvet et al. | 2019 | 30998989 | 44 | N |
| Drost et al. | 2019 | 30504929 | 35 | N |
| Drost et al. | 2012 | 22102614 | 25 | N |
| MSH6 | ||||
| Drost et al. | 2012 | 22102614 | 20 | N |
| MUTYH | ||||
| Hemker et al. | 2025 | 40738107 | 4308 | Y |
| PALB2 | ||||
| Boonen et al. | 2026 | 41554690 | 2539 | N |
| PTEN | ||||
| Matreyek et al. | 2018 | 29785012 | 1965 | N |
| Mighell, Evans-Dutson & O'Roak | 2018 | 29706350 | 2786 | N |
| RAD51C | ||||
| Olvera-León et al. | 2024 | 39299233 | 3849 | Y |
| RAD51D | ||||
| Casadei et al. | 2026 | 42327150 | 3273 | N |
| STK11 | ||||
| Zimmerman et al. | 2025 | 40791513 | 3888 | N |
| TP53 | ||||
| Funk et al. | 2025 | 39774325 | 1872 | N |
| Giacomelli et al. | 2018 | 30224644 | 8258 | N |
| Kotler et al. | 2018 | 29979965 | 1528 | N |
| Kawaguchi et al. | 2005 | 16007150 | 218 | N |
| Kato et al. | 2003 | 12826609 | 2320 | N |
| TSC2 | ||||
| Biar et al. | 2026 | 41648336 | 4279 | N |
| VHL | ||||
| Buckley et al. | 2024 | 38969834 | 2268 | N |
Splicing assay datasets
Multifactorial genetic epidemiology studies
| Publication | Year | PMID | # variants |
|---|---|---|---|
| BRCA1 | |||
| Caputo et al. | 2021 | 34597585 | 40 |
| 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 | |||
| Caputo et al. | 2021 | 34597585 | 50 |
| Li et al. | 2020 | 31853058 | 2167 |
| Parsons et al. | 2019 | 31131967 | 872 |
| Vallée et al. | 2012 | 21990165 | 104 |
| Easton et al. | 2007 | 17924331 | 88 |
| SDHB | |||
| Garrett et al. | 2022 | 34906457 | 106 |
| SDHD | |||
| Garrett et al. | 2022 | 34906457 | 31 |