Session # P073

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

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.

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