Endometrial Carcinoma Ancestry Study (MSK, 2023)

Overview

Single-center retrospective cohort of 1,882 endometrial carcinoma patients (259 self-identified Black, 1,623 self-identified White) treated at Memorial Sloan Kettering Cancer Center from January 2014 through December 2021. Designed to characterize molecular differences between Black and White patients with endometrial cancer and identify racial disparities in actionable alterations. Sequenced with MSK-IMPACT (341–505 gene panel), tumor-normal, FDA-authorized. Data deposited in cBioPortal as ucec_ancestry_cds_msk_2023. PMID:37651310

Composition

  • Cancer type: endometrial carcinoma (UCEC), including serous (USC), carcinosarcoma (UCS), endometrioid, clear cell, and mixed/high-grade NOS subtypes.
  • 259 self-identified Black patients (70% African ancestry, 30% Admixed by IMPACT-inferred genetic ancestry).
  • 1,623 self-identified White patients.
  • Molecular subtyping performed: POLE, MSI-H, CN-H/TP53abn, CN-L/NSMP using integrated sequencing and IHC.
  • Copy-number analysis with FACETS. PMID:37651310

Assays / panels (linked)

  • MSK-IMPACT (341–505 gene panel) — somatic and germline profiling, tumor-normal pairs.
  • FACETS — allele-specific copy-number analysis.

Papers using this cohort

  • PMID:37651310 — Molecular characterization of endometrial carcinomas in Black and White patients reveals disparate drivers with therapeutic implications.

Notable findings derived from this cohort

  • Black patients had more high-risk histologies: serous (29% vs. 13%), carcinosarcoma (20% vs. 11%), less low-grade endometrioid (21% vs. 47%; p < 0.01). PMID:37651310
  • 69% of ECs in Black patients were CN-H/TP53abn vs. 35% in White patients (p < 0.001). POLE subtype was rare in Black patients (1.2% vs. 5.8%). PMID:37651310
  • TP53 mutations enriched in Black patients (72% vs. 42%; q < 0.001); median TMB 4 vs. 7 Mut/Mb (p < 0.001). PMID:37651310
  • CCNE1 amplification more prevalent in Black patients (15% vs. 4%; q < 0.001); ERBB2 amplification enriched in Black patients (12% vs. 3%; q < 0.001). PMID:37651310
  • PI3K pathway alterations less common in Black patients: PTEN 26% vs. 55%, PIK3R1 13% vs. 28%, KRAS 12% vs. 21%. PMID:37651310
  • Clinically actionable alterations (OncoKB Level 1/2/3A) less frequent in Black patients: 22.4% vs. 39.7% (p < 0.001). PMID:37651310
  • Higher chromosomal instability in Black patients: FGA median 30% vs. 10% (p < 0.001); whole-genome doubling 32% vs. 18% (p < 0.001). PMID:37651310

Sources

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