A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Abstract Background We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing analysis reveal that the variant resul...

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Bibliographic Details
Main Authors: Malene Djursby, Karin Wadt, Jane Hübertz Frederiksen, Majbritt Busk Madsen, Lukas Adrian Berchtold, Jane Preuss Hasselby, Gro Linno Willemoe, Thomas v. O. Hansen, Anne-Marie Gerdes
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
APC
Missense variant
Splicing
Polyposis
Adenocarcinoma
Colorectal cancer
Online Access:http://link.springer.com/article/10.1186/s13053-020-00140-3

Internet

http://link.springer.com/article/10.1186/s13053-020-00140-3

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