Ontology highlight
ABSTRACT:
SUBMITTER: Laitman Y
PROVIDER: S-EPMC7214532 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Laitman Yael Y Tzur Shay S Attai Ruben R Tirosh Amit A Friedman Eitan E
Genetics research 20200501
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 pathogenic variant in the REXO2 gene that affects splicing (c.531-1G>T (NM 015523.3)), which co-segre ...[more]