Article
Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster.
BMC medical genetics - 18 Nov 2020
Brandi Giovanni, Rizzo Alessandro, Deserti Marzia, Relli Valeria, Indio Valentina, Bin Sofia, Pariali Milena, Palloni Andrea, De Lorenzo Stefania, Tovoli Francesco, Tavolari Simona
Abstract excerpt
BACKGROUND: Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. Conversely, the occurrence of PLCs in Wilson disease patients is a rare event, in contrast with the occurrence observed in other chronic liver diseases. Here we report the clinical case of five...
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