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Characterization of TMEM127-related tumor predisposition in a hereditary cancer cohort

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am
Conference:
ACMG 2026
Authors:
Brittany Sears, Colin Young, PhD, Jamie Weyandt, PhD, Jeni Herrera-Mullar, June Mikkelson, Victoria Ellis

Presenting Author: Victoria Ellis, MS, CGC

Take home points: 

  1. This is the largest TMEM127 PV cohort reported to date.
  2. Results support the association of TMEM127 with PGL/PCC and provide quantifiable odds of tumor frequency compared to a similarly selected cohort that is negative for PV in known PCC/PGL genes. We found a significant OR for TMEM127+ heterozygotes for PCC (OR=31.49, p<0.001), and an OR approaching significance for PGL (OR=5.8, p=0.058).
  3. Further studies on PGL, kidney, glioblastoma, and other tumor associations are needed to inform consensus surveillance guidelines.
Poster Abstract