Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

ABSTRACT: The endometrium is unique as an accessible anatomic location that can be repeatedly biopsied and where diagnostic biopsies do not extirpate neoplastic lesions. We exploited these features to retrospectively characterize serial genomic alterations along the precancer/cancer continuum in individual women. Cases were selected based on (1) endometrial cancer diagnosis/hysterectomy and (2) preceding serial endometrial biopsies including for some patients an early biopsy before a precancer histologic diagnosis. A comprehensive panel was designed for endometrial cancer genes. Formalin-fixed, paraffin-embedded specimens for each cancer, preceding biopsies, and matched germline samples were subjected to barcoded high-throughput sequencing to identify mutations and track their origin and allelic fre

SUBMITTER: Aguilar M 

PROVIDER: S-EPMC8252414 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature