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APC transcription studies and molecular diagnosis of familial adenomatous polyposis

Short, Emma, Thomas, Laura E., Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter, Mort, Matthew, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28 (1) , pp. 118-121. 10.1038/s41431-019-0486-2

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Abstract

Familial adenomatous polyposis (FAP) is characterised by the development of hundreds to thousands of colorectal adenomas and results from inherited or somatic mosaic variants in the APC gene. Index patients with suspected FAP are usually investigated by APC coding region sequence and dosage analysis in a clinical diagnostic setting. The identification of an APC variant which is predicted to alter protein function enables predictive genetic testing to guide the management of family members. This report describes a 4-generation family with a phenotype consistent with FAP, but in which an APC variant had not been identified, despite testing. To explore this further, quantitative PCR (qPCR) was employed to assess APC transcription, demonstrating reduced levels of APC RNA. Next generation sequencing (NGS) identified the APC 5′UTR/ Exon 1 variant, c.-190 G>A, that had been reported previously in an another FAP family with APC allelic imbalance. Quantitative RNA studies and DNA sequencing of the APC promoters/ Exon 1 may be useful diagnostically for patients with suspected FAP when coding region variants cannot be identified.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Nature Publishing Group
ISSN: 1018-4813
Date of First Compliant Deposit: 17 November 2020
Date of Acceptance: 1 July 2019
Last Modified: 05 May 2021 02:06
URI: http://orca.cardiff.ac.uk/id/eprint/136426

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