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NIH Research Festival

September 12 – 14, 2018

Mutational analysis of late-stage endometrioid endometrial carcinoma exomes

Wednesday, September 12, 2018 – Poster Session I
12:00 – 1:30 p.m.

FAES Terrace

NHGRI

GEN-19

Authors

  • ML Rudd
  • X Zhang
  • NF Hansen
  • NISC Comparative Sequencing Program
  • S Zhang
  • MJ Merino
  • JC Mullikin
  • DW Bell

Abstract

Endometrioid endometrial carcinomas (EECs) represent the majority of endometrial cancer (EC) diagnoses and have a 5-year overall survival rate of 83%. While most EEC patients are recognized early and have favorable outcomes, 14% are diagnosed late with stage III or stage IV disease; comparatively these patients have a poorer prognosis with 5-year overall survival rates of 68% and 26%, respectively. The genomic etiology of early-stage EEC has been well characterized. In this study we sought to identify mutated driver genes in late-stage EEC. We exome sequenced 19 late-stage EECs and identified 4492 somatic variants affecting 2919 protein-coding genes. The most frequently mutated genes were PTEN (84%), ARID1A (68%), PIK3CA (42%) and CTCF (37%), which have established roles in EEC. Using MutSigCV we identified 12 statistically significantly mutated genes (q-value

Scientific Focus Area: Genetics and Genomics

This page was last updated on Friday, March 26, 2021

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2018 program

Download the 2018 Research Festival Schedule Overview (6 pages)

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Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
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    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • Vendor Exhibit Information
    • Research Festival Committee
  • 2021
  • 2019
    • General Schedule of Events
    • Plenary Sessions
    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2017
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
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    • Plenary Sessions
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    • Browse by Presenter Name
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  • 2015
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