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 |
|---|---|---|---|
| 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
Multifactorial genetic epidemiology studies
| 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 |
| Publication | Year | PMID | # variants |
|---|---|---|---|
| BRCA1 | |||
| 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 |