Wellcome Trust Centre for Human Genetics, Roosevelt Dr.
My work is focused on colorectal cancer genetics and translational research. I aim at establishing how somatic genetic alterations such as point mutations or large chromosomal changes are clonally selected in colorectal tumours (eg associations with clinicopathological and molecular variables, genomic instabilities, pathways analysis, timing) and how they can be used for clinical purposes (eg biomarkers for prognosis or prediction of treatment). I use traditional genetic techniques such as Sanger sequencing or genotyping and more novel technologies such as SNP arrays or next-generation sequencing on gene panels, exomes or whole genomes.
I received a BSc in Biology from the Universitat Autonoma de Barcelona, and a MD and PhD in Genetics in the Vall d’Hebron Research Institute (Barcelona). I have been a visiting fellow in INSERM (Paris) and postdoc in the London Research Institute and Wellcome Trust Centre for Human Genetics.
Rosmarin D, Palles C, Church D, Domingo E, Jones A et al. Genetic markers of toxicity from capecitabine and other 5-fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review and meta-analysis. J Clin Oncol 2014 (in press)
Mouradov D*, Domingo E*, Gibbs P, Jorissen RN, Li S et al. Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations. Am J Gastroenterol 2013; 108:1785-93 (*Joint First Authors)
Domingo E*, Church DN*, Sieber O, Ramamoorthy R, Yanagisawa Y et al. Evaluation of PIK3CA mutation as a predictor of benefit from NSAID therapy in colorectal cancer. J Clin Oncol 2013; 31:4297-305 (*Joint First Authors)
Church DN, Briggs SEW, Palles C, Domingo E, Kearsey SJ et al. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Hum Mol Genet 2013; 22:2820-8
Burrell RA, McClelland SE, Endesfelder D, Groth P, Weller MC, Shaikh N, Domingo E et al. Replication stress links cancer structural and numerical chromosomal instability. Nature 2013; 494:492-6
Beggs AD, Domingo E, Abulafi M, Hodgson SV, Tomlinson IP. A study of genomic instability in early preneoplastic colonic lesions. Oncogene 2013; 32:5333-7
Domingo E, Ramamoorthy R, Oukrif D, Rosmarin D, Presz M et al. Use of multivariate analysis to suggest a new molecular classification of colorectal cancer. J Pathol 2013; 229:441-8
Huijbers A, Tollenaar RA, Pelt GW, Zeestraten EC, Dutton S, McConkey CC, Domingo E et al. The proportion of tumor-stroma as a strong prognosticator for stage II and III colon cancer patients: validation in the VICTOR trial. Ann Oncol 2013; 24:179-85
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013; 45:136-44
Beggs AD, Domingo E, McGregor M, Presz M, Johnstone E et al. Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN. Oncotarget 2012; 3:1348-55
Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C et al. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet 2012; 44:770-6
Tie J, Lipton L, Desai J, Gibbs P, Jorissen RN et al. KRAS mutation predicts for lung metastasis in patients with curatively resected colorectal cancer. Clin Cancer Res 2011; 17:1122-30
Houlston R, Cheadle J, Dobbins SE, Tenesa A, Spain S et al. Meta-analysis of three UK genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42:973-7
Thirlwell C*, Will OC*,Domingo E*, Graham TA, McDonald SA et al. Clonality assessment and clonal ordering of individual neoplastic crypts shows polyclonality of colorectal adenomas. Gastroenterology 2010; 138:1441-54 (*Joint First Authors)