Article
Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.
Human molecular genetics - 5 Nov 2024
Martin Samantha, Katainen Riku, Taira Aurora, Välimäki Niko, Ristimäki Ari, Seppälä Toni, Renkonen-Sinisalo Laura, Lepistö Anna, Tahkola Kyösti, Mattila Anne, Koskensalo Selja, Mecklin Jukka-Pekka, Rajamäki Kristiina, Palin Kimmo, Aaltonen Lauri A
Abstract excerpt
Microsatellite unstable colorectal cancer (MSI-CRC) can arise through germline mutations in mismatch repair (MMR) genes in individuals with Lynch syndrome (LS), or sporadically through promoter methylation of the MMR gene MLH1. Despite the different origins of hereditary and sporadic MSI tumours, their genomic features have not been extensively compared. A prominent feature of MMR-deficient genomes is the...
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