Ceres Fernández Rozadilla

PERSONAL INFORMATION

ORCID: 0000-0001-7330-4804; Research ID: G-5067-2016

Twitter: @Ce_recilla

Mail: ceres.fernandez.rozadilla@sergas.es

EDUCATION

2011: PhD in Biology / University of Santiago de Compostela

CURRENT POSITION(S)

2016 –  Junior PI / Genomic Medicine Group (GMX)/ Institute of Biomedical Research of Santiago (IDIS)

RESEARCH FOCUS

My work has been focused on the analysis of how genomics initially, but then also other omics may be analysed in order to identify individuals at higher risk of developing cancer, mainly of the colorectum. For this, I have used omic wide strategies, including GWAS, TWAS and MWAS to identify the genes underlying bowel cancer predisposition. This information is of particular relevance to gain further insight into the biology of cancer, which is essential for novel therapeutic development, as well as for generating risk stratification strategies that can be used in the context of population-wide screening.

Other lines of work include the intersection between single-cell transcriptomics and liquid biopsy approaches in various cancer types, transcriptomic and genomic measures of response to immunotherapy, the research on the mechanisms responsible for therapy resistance in cancer stem cells and the study of the genetic predisposition to adverse drug reactions following chemotherapeutic administration.

PROJECTS

• Omics applied to liquid biopsy in pancreatic adenocarcinoma: characterisation of circulating tumour cells for the identification of novel diagnostic, prognostic and monitoring biomarkers (PI19/99179) – ISCIII – 56,870€; 2020-2022.

We will generate single-cell transcriptomic data from pancreatic CTCs retrieved in a dynamic setting over the course of treatment in order to discover novel biomarkers that can help us better manage the disease and achieve increased survival.

• Novel liquid biopsy approaches to improve screening strategies for colorectal polyps and cancer. Fundació Olga Torres – 60,000€; 2019-2020.

We characterise the mutation spectrum of circulating tumour DNA in patients with advanced polyps and localised cancer in order to identify markers or risk or early diagnosis that can be used in the screening setting.

• Functional characterisation of colorectal cancer predisposition genes and development of intermediate biomarkers of disease risk (ESR -301077); MSCA FP7 – 209,033.4€; 2012-2014.

In this project, we have used intermediate phenotypes such as gene expression, telomere length and global methylation status to ascertain risk groups that could be used in population-wide screening

RELEVANT PUBLICATIONS

1: Fernandez-Rozadilla C^*, Simões AR, Lleonart ME, Carnero A, Carracedo Á. Tumor Profiling at the Service of Cancer Therapy. Front Oncol. 2021 Jan 11;10:595613. doi: 10.3389/fonc.2020.595613. PMID: 33505911; PMCID: PMC7832432. ^*Corresponding author

2: Simões AR, Fernández-Rozadilla C^*, Maroñas O, Carracedo Á. The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment? J Pers Med. 2020 Nov 19;10(4):237. doi: 10.3390/jpm10040237. PMID: 33228198;PMCID: PMC7711884. ^*Corresponding author

3: Montazeri Z, Li X, Nyiraneza C, Ma X, Timofeeva M, Svinti V, Meng X, He Y, Bo Y, Morgan S, Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, […], Little J. Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. Gut. 2020 Aug;69(8):1460-1471. doi: 10.1136/gutjnl-2019-319313. Epub 2019 Dec 9. PMID: 31818908; PMCID: PMC7398467.

4: Thomas R, Trapani D, Goodyer-Sait L, Tomkova M, Fernandez-Rozadilla C, […], Lewis A. The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1promoter leading to differential mRNA expression. Sci Rep. 2019 Sep 17;9(1):13463. doi: 10.1038/s41598-019-49952-x. PMID: 31530880; PMCID: PMC6748923.

5: Fernandez-Rozadilla C, Alvarez-Barona M, Schamschula E, Bodo S, Lopez-Novo A, Dacal A, Calviño-Costas C, Lancho A, Amigo J, Bello X, Cameselle-Teijeiro JM, Carracedo A, Colas C, Muleris M, Wimmer K, Ruiz-Ponte C. Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum. Cancers (Basel). 2019 Jul 30;11(8):1081. doi: 10.3390/cancers11081081. PMID:31366136; PMCID: PMC6721314.

6: Law PJ^*, Timofeeva M^*, Fernandez-Rozadilla C^*, […], Dunlop MG. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nat Commun. 2019 May 14;10(1):2154. doi: 10.1038/s41467-019-09775-w. PMID: 31089142; PMCID: PMC6517433.

7: Bycroft C, Fernandez-Rozadilla C, Ruiz-Ponte C, Quintela I, Carracedo Á, Donnelly P, Myers S. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula. Nat Commun. 2019 Feb 1;10(1):551. doi: 10.1038/s41467-018-08272-w. PMID: 30710075; PMCID: PMC6358624.

8: Fernandez-Rozadilla C, Kartsonaki C, Woolley C, McClellan M, Whittington D, Horgan G, Leedham S, Kriaucionis S, East J, Tomlinson I. Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel. Br J Cancer. 2018 Mar 6;118(5):727-732. doi: 10.1038/bjc.2017.486. Epub 2018 Feb 13. Erratum in: Br J Cancer. 2018 May 21; PMID: 29438375; PMCID: PMC5846076.

9: Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Clin Transl Oncol. 2017 May;19(5):625-632. doi:10.1007/s12094-016-1576-z. Epub 2016 Nov 25. PMID: 27888432.

10: Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L; EPICOLON Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Hum Genet. 2014 May;133(5):525-34. doi: 10.1007/s00439-013-1390-4. Epub 2013 Nov 12. PMID:24218287.

11: Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X; EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics. 2013 Jan 26;14:55. doi: 10.1186/1471-2164-14-55. PMID: 23350875;PMCID: PMC3616862.

12: Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R; EPICOLON Consortium, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16. Erratum in: Carcinogenesis. 2013 Jul;34(7):1697. PMID: 23161572.

13: Fernandez-Rozadilla C, Brea-Fernández A, Bessa X, Alvarez-Urturi C, Abulí A, Clofent J, Payá A; EPICOLON Consortium, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellví-Bel S, Ruiz-Ponte C. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency. Clin Genet. 2013 Jul;84(1):94-6. doi: 10.1111/cge.12023. Epub 2012 Oct 12. PMID: 23057600.

14: Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A; EPICOLON Consortium. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J. 2013 Jun;13(3):209-17. doi:10.1038/tpj.2012.2. Epub 2012 Feb 7. PMID: 22310351.

15: Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort. PLoS One. 2010 Sep 9;5(9):e12673. doi: 10.1371/journal.pone.0012673. PMID: 20844743; PMCID:PMC2936577.

16: Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study. Cancer Epidemiol Biomarkers Prev. 2010 Feb;19(2):619-23. doi: 10.1158/1055-9965.EPI-09-1175. PMID: 20142256.

PARTICIPATION IN EUROPEAN PROJECTS

2009-2012: Personalised bioinformatics for global cancer susceptibility identification and clinical management “PanCanRisk”/Member of coordinating team/Horizon2020

2009-2012: Genetic study of Common Hereditary Bowel cancers in Hispania and the Americas “CHIBCHA”/Team member/FP7

MEMBERSHIPS OF SCIENTIFIC CONSORTIA

Identification and development of novel colorectal cancer biomarkers via state-of-the-art liquid biopsy approaches initiative “ColoMARK” (2019-)

COST Action CA17118: “TransColonCan” (2018-)

COST Action BM1206: Cooperation Studies on Inherited Susceptibility to Colorectal Cancer “EuColonGene” (2013-2017)

COlorectal cancer GENeTics “COGENT” (2009-2013)

Spanish epidemiologic network on colorectal cancer “EPICOLON” (2006-2012)

MAJOR COLLABORATIONS

Professor Ian Tomlinson (Cancer omic-wide association studies)/Director of Edinburgh Cancer Research Centre/University of Edinburgh/UK

Professor Malcolm Dunlop (Cancer omic-wide association studies)/Edinburgh Cancer Research Centre/University of Edinburgh/UK

Professor Richard Houlston (Cancer omic-wide association studies)/The Institute of Cancer Research/UK

Professor Ulrike Peters (Cancer omic-wide association studies)/Associate Director Fred Hutchinson Cancer Research Centre/US

Dr. Li Hsu (Cancer omic-wide association studies)/ Fred Hutchinson Cancer Research Centre/US

Dr. Claire Palles (Pharmacogenomics)/Institute of Cancer and Genomic Sciences/University of Birmingham/UK

Dr. Sergi Castellvi (Cancer predisposition)/IDIBELL/Spain

Dr. Clara Ruiz-Ponte (Cancer predisposition)/Galician Public Foundation for Genomic Medicine/Spain

Dr. Álvaro Barbeira (TWAS an PredictDB)/University of Chicago/US