Article
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal of pathology - 1 Jul 2018
Temko Daniel, Van Gool Inge C, Rayner Emily, Glaire Mark, Makino Seiko, Brown Matthew, Chegwidden Laura, Palles Claire, Depreeuw Jeroen, Beggs Andrew, Stathopoulou Chaido, Mason John, Baker Ann-Marie, Williams Marc, Cerundolo Vincenzo, Rei Margarida, Taylor Jenny C, Schuh Anna, Ahmed Ahmed, Amant Frédéric, Lambrechts Diether, Smit Vincent Thbm, Bosse Tjalling, Graham Trevor A, Church David N, Tomlinson Ian
Abstract excerpt
Genomic instability, which is a hallmark of cancer, is generally thought to occur in the middle to late stages of tumourigenesis, following the acquisition of permissive molecular aberrations such as TP53 mutation or whole genome doubling. Tumours with somatic POLE exonuclease domain mutations are notable for their extreme genomic instability (their mutation burden is among the highest in human cancer), distinct...
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