Who's Who

Estelle Chanudet-Van Den Brink

Scientist

Genetic Epidemiology Group


Specialty:

Genomics – clinical genetics

Academic Degrees

YearDegreeMajorInstitutionTownCountry
2008PhDCancer geneticsUniversity of CambridgeCambridgeUK
2004Ingenieur (tri-national M.S.)BiotechnologyESBS - European Confederation of Upper Rhine UniversitiesStrasbourg/ Freiburg/ BaselFrance/ Germany/ Switzerland
2004D.E.A (M.Res.)Molecular biologyUniversity of StrasbourgStrasburgFrance
2001D.U.T. (B.S.)Medical laboratory analysesNancy-Brabois Technology University InstituteNancyFrance


Current Research Projects

  • Genetics research (incl. genomic profiles, mutational signatures, cancer-specific gene-panels, non-invasive biomarkers for early detection/monitoring), primarily applied to kidney cancer and HNC.


Selected Publications

Thomas AC, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D, O’Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Morre GE, Sousa SB, Stanier P. (2014) Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet. 95(5):611-621

Sousa SB, Jenkins D*, Chanudet E*, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE.*Co-authors (2014) Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 46(1):70-6

Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. (2013) ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 136:3096-105

Dong G*, Chanudet E*, Zeng N, Appert A, Chen YW, Au WY, Hamoudi RA, Watkins AJ, Ye H, Liu H, Gao Z, Chuang SS, Srivastava G, Du MQ. *Co-authors (2011) A20, ABIN-1/2, and CARD11 mutations and their prognostic value in gastrointestinal diffuse large B-cell lymphoma. Clin Cancer Res 17(6):1440-51

Chanudet E, Huang Y, Ichimura K, Dong G, Hamoudi RA, Radford J, Wotherspoon AC, Isaacson PG, Ferry J, Du MQ. (2010) A20 is targeted by promoter methylation, deletion and inactivating mutation in MALT lymphoma. Leukemia 24(2):483-7

Scientific Societies Membership

European Society of Human Genetics
Pathological Society of Great Britain and Ireland

Prizes, Honours

Cambridge European Trust award;
Lady Tata Memorial Trust international award