Bloom syndrome is a rare and recessive disorder characterized by loss-of-function mutations of the BLM gene, which encodes a RecQ 3'-5' DNA helicase. Despite its putative tumor suppressor function, the contribution of BLM to human sporadic colorectal cancer (CRC) remains poorly understood.

Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer

Parcesepe, Pietro;REMO, Andrea;MANFRIN, Erminia;
2017

Abstract

Bloom syndrome is a rare and recessive disorder characterized by loss-of-function mutations of the BLM gene, which encodes a RecQ 3'-5' DNA helicase. Despite its putative tumor suppressor function, the contribution of BLM to human sporadic colorectal cancer (CRC) remains poorly understood.
Bloom syndrome gene; CpG island promoter hypomethylation; DNA damage response; DNA repair; Phosphorylated ataxia telangiectasia mutated; γH2AX
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/944326
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