{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:01:29Z","timestamp":1790618489150,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"unspecified","delay-in-days":121,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.,<jats:italic>KIF1B<\/jats:italic>,<jats:italic>SDHB<\/jats:italic>,<jats:italic>VHL<\/jats:italic>,<jats:italic>SDHD<\/jats:italic>,<jats:italic>RET<\/jats:italic>). 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<jats:italic>REXO2<\/jats:italic>gene that affects splicing (c.531-1G&gt;T (NM 015523.3)), which co-segregated with the phenotype in the family.<jats:italic>REXO2<\/jats:italic>encodes for RNA exonuclease 2 protein and localizes to 11q23, a chromosomal region displaying allelic imbalance in PCC. REXO2 protein has been associated with DNA repair, replication and recombination processes and thus its inactivation may contribute to tumorigenesis. While the study suggests that this novel<jats:italic>REXO2<\/jats:italic>gene variant underlies PCC in this family, additional functional studies are required in order to establish the putative role of the<jats:italic>REXO2<\/jats:italic>gene in PCC predisposition.<\/jats:p>","DOI":"10.1017\/s0016672320000038","type":"journal-article","created":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T08:11:24Z","timestamp":1588320684000},"source":"Crossref","is-referenced-by-count":6,"title":["Germline variant in<i>REXO2<\/i>is a novel candidate gene in familial pheochromocytoma"],"prefix":"10.1155","volume":"102","author":[{"given":"Yael","family":"Laitman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Tzur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben","family":"Attali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Tirosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6745-1733","authenticated-orcid":false,"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,1]]},"reference":[{"key":"S0016672320000038_ref31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S0033583510000181","article-title":"Nucleases: 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