Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
Authors
Andreou, Avgi
Hearn, Timothy
Genomics England Research Consortium
Tischkowitz, Marc
Publication Date
2022-03Journal Title
Eur J Hum Genet
ISSN
1018-4813
Publisher
Springer Science and Business Media LLC
Volume
30
Issue
3
Pages
265-270
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
McGuigan, A., Whitworth, J., Andreou, A., Hearn, T., Genomics England Research Consortium, Tischkowitz, M., & Maher, E. R. (2022). Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.. Eur J Hum Genet, 30 (3), 265-270. https://doi.org/10.1038/s41431-021-01013-6
Description
Funder: Cancer Research UK (CRUK); doi: https://doi.org/10.13039/501100000289
Abstract
Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes(CSGs). With increased use of exome/genome sequencing it would be predicted that detection of MINAS would become more frequent. Here we review recent progress in knowledge of MINAS. A systematic literature search for reports of individuals with germline pathogenic variants in 2 or more of 94 CSGs was performed. In addition, participants with multiple primary tumours who underwent genome sequencing as part of the Rare Disease arm of the UK 100,000 Genomes Project were interrogated to detect additional cases. We identified 385 MINAS cases (211 reported in the last 5 years, 6 from 100,000 genomes participants). Most (287/385) cases contained at least one pathogenic variant in either BRCA1 or BRCA2. 108/385 MINAS cases had multiple primary tumours at presentation and a subset of cases presented unusual multiple tumour phenotypes. We conclude that, as predicted, increasing numbers of individuals with MINAS are being have been reported but, except for individuals with BRCA1/BRCA2 MINAS, individual CSG combinations are generally rare. In many cases it appears that the clinical phenotype is that which would be expected from the effects of the constituent CSG variants acting independently. However, in some instances the presence of unusual tumour phenotypes and/or multiple primary tumours suggests that there may be complex interactions between the relevant MINAS CSGs. Systematic reporting of MINAS cases in a MINAS database (e.g. https://databases.lovd.nl/shared/diseases/04296 ) will facilitate more accurate prognostic predictions for specific CSG combinations.
Keywords
Review Article, /692/499, /631/208/2489/68, /45/23, review-article
Sponsorship
National Institute for Health Research (IS-BRC-1215-20014)
Identifiers
s41431-021-01013-6, 1013
External DOI: https://doi.org/10.1038/s41431-021-01013-6
This record's URL: https://www.repository.cam.ac.uk/handle/1810/334815
Rights
Licence:
http://creativecommons.org/licenses/by/4.0/
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.
Recommended or similar items
The current recommendation prototype on the Apollo Repository will be turned off on 03 February 2023. Although the pilot has been fruitful for both parties, the service provider IKVA is focusing on horizon scanning products and so the recommender service can no longer be supported. We recognise the importance of recommender services in supporting research discovery and are evaluating offerings from other service providers. If you would like to offer feedback on this decision please contact us on: support@repository.cam.ac.uk