Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma.

Yael Laitman¹, Shay Tzur², Ruben Attai², Amit Tirosh³, Eitan Friedman^1,4

¹The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Tel HaShomer, Israel.

²Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel.

³Institute of Endocrinology, Unit of Neuroendocrine Tumors, Sheba Medical Center, Tel HaShomer, Israel.

⁴The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

PubMed PMC DOI PDF

Abstract

Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with four PCC-affected patients in two consecutive generations and identified a potential novel candidate p…

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