Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma.

Y LuoY RaoX GuP ChaiY YangJ LinX XuRenbing JiaS Xu

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)

EPSCCs displayed a unique mutation profile from cutaneous SCCs and mucosal SCCs. We have identified novel damaging mutations in epigenetic regulators like KMT2C boosted early onset of EPSCCs in addition to UVR, ageing or MMR deficiency. And malfunction of MMR genes worsened prognosis.

Keyphrases

early onset
squamous cell carcinoma
late onset
dna methylation
genome wide
gene expression
transcription factor
locally advanced
genome wide identification
replacement therapy
rectal cancer
smoking cessation