ArticleMolecular cancer2009
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.
Article in Molecular cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 26 citations in OpenAlex.
- Clinical Challenges in the Management of Malignant Ovarian Germ Cell Tumours.International journal of environmental research and public health · 2023Review
- An E3 Ubiquitin Ligase RNF139 Serves as a Tumor-Suppressor in Glioma.Journal of molecular neuroscience : MN · 2021Article
- Review
- A Novel RNF139 Mutation in Hemangioblastomas: Case Report.Frontiers in neurology · 2019Article
- Dropping in on lipid droplets: insights into cellular stress and cancer.Bioscience reports · 2018Review
- Constitutional t(8;22)(q24;q11.2) that mimics the variant Burkitt-type translocation in Philadelphia chromosome-positive chronic myeloid leukemia.International journal of hematology · 2017Article
- Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences.Nucleic acids research · 2016Article
- Glioblastomas with copy number gains in EGFR and RNF139 show increased expressions of carbonic anhydrase genes transformed by ENO1.BBA clinical · 2016Article
- Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.Chinese medical journal · 2015Article
- Identifying potential cancer driver genes by genomic data integration.Scientific reports · 2013Article
- Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.Human mutation · 2013Article
- Molecular characteristics of malignant ovarian germ cell tumors and comparison with testicular counterparts: implications for pathogenesis.Endocrine reviews · 2013Review
- TRC8 suppresses tumorigenesis through targeting heme oxygenase-1 for ubiquitination and degradation.Oncogene · 2013Article
- RINGs of good and evil: RING finger ubiquitin ligases at the crossroads of tumour suppression and oncogenesis.Nature reviews. Cancer · 2011Review
- A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).American journal of human genetics · 2010Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
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Abstract
backgroundRNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC) and thyroid cancers. Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma.
methodsThe translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes TRC8 and TSN was tested both on dysgerminoma and in the proposita and her father.
resultsThe breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR) involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. TRC8 was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary.TRC8 is a target of Translin (TSN), a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells.
conclusionA role for TRC8 in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of TRC8 is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.
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