Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster.

Giovanni BrandiAlessandro RizzoMarzia DesertiValeria RelliValentina IndioSofia BinMilena ParialiAndrea PalloniStefania De LorenzoFrancesco TovoliSimona Tavolari

Published in: BMC medical genetics (2020)

These findings suggest that ABCC2 c.3972C > T SNP and WD, also in association, may not represent a sufficient condition for PLC development, but that co-occurrence of further host/exogenous risk factors are needed to drive this process, reinforcing the notion that liver carcinogenesis is the result of a complex interplay between environmental and host genetic determinants. Due to the sporadic cases of this study and the paucity of data currently available in literature on this issue, future investigations in a larger population are needed to confirm our findings.

Keyphrases

risk factors
genome wide
systematic review
electronic health record
late onset
early onset
dna methylation
gene expression
machine learning
artificial intelligence