P073: Characterization of TMEM127-related tumor predisposition in a hereditary cancer cohort

Genetics in Medicine Open 2026 Open access

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Authors: Victoria Ellis, June Mikkelson, Jennifer Herrera-Mullar, Jamie D. Weyandt, Colin Young, Brittany F. Sears
DOI: 10.1016/j.gimo.2026.103564
Cited by: 0

Abstract

Loss of function variants in TMEM127 are associated with predisposition to pheochromocytomas (PCC), and the TMEM127 tumor spectrum may also include paragangliomas (PGL) and renal cell carcinoma (RCC). Due to the rarity of reported TMEM127 pathogenic and likely pathogenic variants (PVs), data on tumor prevalence and corresponding surveillance recommendations remain limited. This study aimed to characterize tumor types associated with PVs in TMEM127 from a cohort of 400 patients tested at a commercial laboratory and compare them with tumor frequencies in SDHA and SDHB heterozygotes.

Fields of Study & Subjects

Adrenal and Paraganglionic Tumors Genetic factors in colorectal cancer Renal cell carcinoma treatment

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103564–103564
Publication date
1 January 2026
Language
EN