dc.contributor.author | Loong, L | |
dc.contributor.author | Huntley, C | |
dc.contributor.author | McRonald, F | |
dc.contributor.author | Santaniello, F | |
dc.contributor.author | Pethick, J | |
dc.contributor.author | Torr, B | |
dc.contributor.author | Allen, S | |
dc.contributor.author | Tulloch, O | |
dc.contributor.author | Goel, S | |
dc.contributor.author | Shand, B | |
dc.contributor.author | Rahman, T | |
dc.contributor.author | Luchtenborg, M | |
dc.contributor.author | Garrett, A | |
dc.contributor.author | Barber, R | |
dc.contributor.author | Bedenham, T | |
dc.contributor.author | Bourn, D | |
dc.contributor.author | Bradshaw, K | |
dc.contributor.author | Brooks, C | |
dc.contributor.author | Bruty, J | |
dc.contributor.author | Burghel, GJ | |
dc.contributor.author | Butler, S | |
dc.contributor.author | Buxton, C | |
dc.contributor.author | Callaway, A | |
dc.contributor.author | Callaway, J | |
dc.contributor.author | Drummond, J | |
dc.contributor.author | Durkie, M | |
dc.contributor.author | Field, J | |
dc.contributor.author | Jenkins, L | |
dc.contributor.author | McVeigh, TP | |
dc.contributor.author | Mountford, R | |
dc.contributor.author | Nyanhete, R | |
dc.contributor.author | Petrides, E | |
dc.contributor.author | Robinson, R | |
dc.contributor.author | Scott, T | |
dc.contributor.author | Stinton, V | |
dc.contributor.author | Tellez, J | |
dc.contributor.author | Wallace, AJ | |
dc.contributor.author | Yarram-Smith, L | |
dc.contributor.author | Sahan, K | |
dc.contributor.author | Hallowell, N | |
dc.contributor.author | Eccles, DM | |
dc.contributor.author | Pharoah, P | |
dc.contributor.author | Tischkowitz, M | |
dc.contributor.author | Antoniou, AC | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Lalloo, F | |
dc.contributor.author | Norbury, G | |
dc.contributor.author | Morris, E | |
dc.contributor.author | Burn, J | |
dc.contributor.author | Hardy, S | |
dc.contributor.author | Turnbull, C | |
dc.coverage.spatial | England | |
dc.date.accessioned | 2023-01-10T11:44:30Z | |
dc.date.available | 2023-01-10T11:44:30Z | |
dc.date.issued | 2022-12-26 | |
dc.identifier | jmg-2022-108800 | |
dc.identifier.citation | Journal of Medical Genetics, 2022, pp. jmg-2022-108800 - | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/5647 | |
dc.identifier.eissn | 1468-6244 | |
dc.identifier.eissn | 1468-6244 | |
dc.identifier.doi | 10.1136/jmg-2022-108800 | |
dc.description.abstract | OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS regional molecular genetics laboratories. DESIGN: Laboratories submitted individual-level patient data to NDRS against a prescribed data model, including (1) patient identifiers, (2) test episode data, (3) per-gene results and (4) detected sequence variants. Individualised per-laboratory algorithms were designed and applied in NDRS to extract and map the data to the common data model. Laboratory-level MMR activity audit data from the Clinical Molecular Genetics Society/Association of Clinical Genomic Science were used to assess early years' missing data. RESULTS: Individual-level data from patients undergoing NHS MMR germline genetic testing were submitted from all 13 English laboratories performing MMR analyses, comprising in total 16 722 patients (9649 full-gene, 7073 targeted), with the earliest submission from 2000. The NDRS dataset is estimated to comprise >60% of NHS MMR analyses performed since inception of NHS MMR analysis, with complete national data for full-gene analyses for 2016 onwards. Out of 9649 full-gene tests, 2724 had an abnormal result, approximately 70% of which were (likely) pathogenic. Data linkage to the National Cancer Registry demonstrated colorectal cancer was the most frequent cancer type in which full-gene analysis was performed. CONCLUSION: The NDRS MMR dataset is a unique national pan-laboratory amalgamation of individual-level clinical and genomic patient data with pseudonymised identifiers enabling linkage to other national datasets. This growing resource will enable longitudinal research and can form the basis of a live national genomic disease registry. | |
dc.format | Print-Electronic | |
dc.format.extent | jmg-2022-108800 - | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | BMJ PUBLISHING GROUP | |
dc.relation.ispartof | Journal of Medical Genetics | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject | Databases, Genetic | |
dc.subject | Genetic Testing | |
dc.subject | Genetics, Medical | |
dc.subject | Genetics, Population | |
dc.subject | Genomics | |
dc.title | Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2022-11-18 | |
dc.date.updated | 2023-01-10T09:40:42Z | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1136/jmg-2022-108800 | |
rioxxterms.licenseref.startdate | 2022-12-26 | |
rioxxterms.type | Journal Article/Review | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/36572524 | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/Royal Marsden Clinical Units | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/19/20 Starting Cohort | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/20/21 Starting Cohort | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genetics Education & Quality Improvement | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/21/22 Starting Cohort | |
pubs.publication-status | Published online | |
pubs.publisher-url | http://dx.doi.org/10.1136/jmg-2022-108800 | |
icr.researchteam | Translational Genetics | |
icr.researchteam | Cancer Genetics Edu&Qual | |
dc.contributor.icrauthor | Pronin, Lucy Wai Yee | |
dc.contributor.icrauthor | Huntley, Catherine | |
dc.contributor.icrauthor | Pemberton - Whiteley, Bethany | |
dc.contributor.icrauthor | Allen, Sophie | |
dc.contributor.icrauthor | Garrett, Alice | |
dc.contributor.icrauthor | McVeigh, Terri | |
dc.contributor.icrauthor | Turnbull, Clare | |
icr.provenance | Deposited by Dr Terri McVeigh on 2023-01-10. Deposit type is initial. No. of files: 1. Files: MMR genes.pdf | |