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Targeted gene sequencing of Lynch Syndrome-related and sporadic endometrial carcinomas

Human Pathology Jul 13, 2018

Libera L, et al. - In the present study, researchers investigated the mutational profiles of a well-characterized series of sporadic and Lynch Syndrome (LS)-related endometrial carcinomas (ECs), performing exonic targeted sequencing of 16 genes mainly involved in microsatellite instability (MSI) endometrial carcinomas (ECs). As compared to LS-related ECs, KRAS mutations appeared to be more common in sporadic MSI ECs. Compared with MSS ECs, MSI ECs exhibited a surplus of C > T transitions. Data reported that an integrated analysis of genetic and epigenetic features of LS-related and sporadic ECs gave valuable insights into disease biology and diagnostic classification of these tumors. Regardless of MSI status, ARID1A was frequently involved in ECs.

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