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Casey RT, Ascher DB, Rattenberry E, et al. SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. Mol Genet Genomic Med. 2017;5(3):237-250doi: 10.1002/mgg3.279.
Casey, R. T., Ascher, D. B., Rattenberry, E., Izatt, L., Andrews, K. A., Simpson, H. L., Challis, B., Park, S. M., Bulusu, V. R., Lalloo, F., Pires, D. E. V., West, H., Clark, G. R., Smith, P. S., Whitworth, J., Papathomas, T. G., Taniere, P., Savisaar, R., Hurst, L. D., Woodward, E. R., & Maher, E. R. (2017). SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. Molecular genetics & genomic medicine, 5(3), 237-250. https://doi.org/10.1002/mgg3.279
Casey, Ruth T, et al. "SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity." Molecular genetics & genomic medicine vol. 5,3 (2017): 237-250. doi: https://doi.org/10.1002/mgg3.279
Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER. SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. Mol Genet Genomic Med. 2017 Mar 02;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May. PMID: 28546994; PMCID: PMC5441402.
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Mol Genet Genomic Med. 2017 Mar 02;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Molecular genetics & genomic medicine

Ruth T Casey, David B Ascher, Eleanor Rattenberry, Louise Izatt, Katrina A Andrews, Helen L Simpson, Benjamen Challis, Soo-Mi Park, Venkata R Bulusu, Fiona Lalloo, Douglas E V Pires, Hannah West, Graeme R Clark, Philip S Smith, James Whitworth, Thomas G Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D Hurst, Emma R Woodward, Eamonn R Maher

Affiliations

  1. Department of Medical GeneticsUniversity of Cambridge and NIHR Cambridge Biomedical Research CentreCambridgeCB2 2QQUK.
  2. Department of EndocrinologyUniversity of Cambridge and NIHR Cambridge Biomedical Research CentreAddenbrooke's HospitalCambridgeCB2 2QQUK.
  3. Department of BiochemistryUniversity of CambridgeSanger Building, 80 Tennis Court RoadCambridgeCB2 1GAUK.
  4. Department of BiochemistryBio21 InstituteUniversity of MelbourneMelbourneVictoria3010Australia.
  5. West Midlands Region Genetics ServiceBirmingham Women's HospitalBirminghamUK.
  6. Department of Medical GeneticsGuy's HospitalLondonUK.
  7. Oncology CentreCambridge University HospitalsCambridgeCB2 2QQUK.
  8. Manchester Centre for Genomic MedicineSt Mary's HospitalCentral Manchester University Hospitals NHS Foundation TrustManchester Academic Health Science CentreManchesterUK.
  9. Centro de Pesquisas René RachouFundação Oswaldo CruzBelo Horizonte30190-002Brazil.
  10. Department of HistopathologyKing's College HospitalLondonUK.
  11. Histopathology and Cellular PathologyUniversity Hospitals Birmingham NHS Foundation TrustQueen Elizabeth HospitalBirminghamUK.
  12. The Milner Centre for EvolutionDepartment of Biology and BiochemistryUniversity of BathBathBA2 7AYUK.

PMID: 28546994 PMCID: PMC5441402 DOI: 10.1002/mgg3.279

Abstract

PURPOSE: To evaluate the role of germline

PATIENTS AND METHODS: A systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative germline variants in UK molecular genetic laboratories was performed. To evaluate the molecular consequences of

RESULTS: Literature review revealed reports of 17 different germline

CONCLUSION: The clinical spectrum of

Keywords: Pathogenesis; SDHA; variant

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