Conclusions : Our study suggests methylation alteration at SHANK1-associated CGI as a
biomarker for CLL risk definition, allowing the monitoring of people displaying methylation
changes at this locus prior CLL onset, early diagnosis and quantification of tumour
aggressiveness. Since gene body methylation may regulate cell context-specific alternative
promoters, we will investigate SHANK1 alternative transcripts and protein isoforms
expression to elucidate the functional role of SHANK1 in tumorigenesis.
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