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Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).

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Date
2019-11
ICR Author
Turnbull, Clare
Author
Talukdar, S
Hawkes, L
Hanson, H
Kulkarni, A
Brady, AF
McMullan, DJ
Ahn, JW
Woodward, E
Turnbull, C
UK Association for Clinical Genomic Science and UK Cancer Genetics Group
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Type
Journal Article
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Abstract
Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities. Identification of a structural aberration (SA) involving a cancer susceptibility gene (CSG) constitutes a type of incidental or secondary finding. Laboratory reporting, risk communication and clinical management of these structural aberrations with secondary implications (SASIs) is currently inconsistent. We undertake meta-analysis of 18 622 instances of CMA performed for unrelated indications in which 106 SASIs are identified involving in total 40 different CSGs. Here we present the recommendations of a joint UK working group representing the British Society of Genomic Medicine, UK Cancer Genetics Group and UK Association for Clinical Genomic Science. SASIs are categorised into four groups, defined by the type of SA and the cancer risk. For each group, recommendations are provided regarding reflex parental testing and cancer risk management.
URI
https://repository.icr.ac.uk/handle/internal/4116
DOI
https://doi.org/10.1136/jmedgenet-2018-105820
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  • Other ICR Research
Subject
UK Association for Clinical Genomic Science and UK Cancer Genetics Group
Humans
Neoplasms
Chromosome Aberrations
Disease Susceptibility
Genetic Predisposition to Disease
Developmental Disabilities
Genomics
DNA Copy Number Variations
Intellectual Disability
Language
eng
Date accepted
2019-03-02
License start date
2019-11
Citation
Journal of medical genetics, 2019, 56 (11), pp. 718 - 726

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