The Functional Genomics of Cancer Laboratory



Building 8, Laboratory 1.12

Department of Biomedical Sciences and Medicine.

University of Algarve

Phone: +351 289 800 094

Team Members

Ana Teresa Maia  (Principal Investigator)

Joana Xavier (Post Doctoral Researcher)

Joceline Silva (MSc Student)

Ramiro Magno (BSc Fellow)

Filipa Esteves (PhD Student)

Bernardo Almeida (MSc Student – External – Nuno Barbosa Lab – IMM)

About the FGCL

The Functional Genomics of Cancer Laboratory (FGCL) investigates the influence of cis-regulatory variants in the susceptibility to cancer. Due to cis-regulatory polymorphisms, a large number of human genes are preferentially expressed from one allele. This imbalance in gene expression is a common feature of the human genome and contributes to phenotypic variability in complex traits, as well as to susceptibility to common diseases. The main aim of the FGCL is to utilize this concept for the development of novel approaches to determine predisposition to breast cancer. Ultimately the identified risk loci will be translated into the clinic, to improve individual risk prediction and patient management. The FGCL is also investigating the role of allelic imbalance of gene expression in tumour biology, specifically the effect of mutations and treatment response. The FGCL incorporates experimental results (using state-of-the art next generation sequencing (NGS) of clinical samples) with advanced bioinformatic analysis and follow-up experimental validation.
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Vollan HK, Rueda OM, Chin SF, Curtis C, Turashvili G, Shah S, Lingjærde OC, Yuan Y, Ng CK, Dunning MJ, Dicks E, Provenzano E, Sammut S, McKinney S, Ellis IO, Pinder S, Purushotham A, Murphy LC, Kristensen VN; METABRIC Group, et al.
Mol Oncol. 2015 Jan;9(1):115-27.
doi: 10.1016/j.molonc.2014.07.019.
PMID: 25169931

Cancer Epidemiology, Biomarkers & Prevention. Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16.
doi: 10.1158/1055-9965.
PMID: 25336561.Jones JO, Chin SF, Wong-Taylor LA, Leaford D, Ponder BA, Caldas C, Maia AT. TOX3 Mutations in Breast Cancer. PLoS One 2013 8 e74102 10.1371/journal.pone.0074102.

French JD, et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet2013, 92:489-503  10.1016/j.ajhg.2013.01.002

Curtis C, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 2012, 486:346-152 10.1038/nature10983

Maia AT, Antoniou AC, O’Reilly M, et al. Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res 2012, 14:R63  10.1186/bcr3169

Liu R, Maia AT, Russell R, Caldas C, Ponder BA, Ritchie ME. Allele-specific expression analysis methods for high-density SNP microarray data. Bioinformatics2012, 28:1102-1108  0.1093/bioinformatics/bts089

Udler MS, et al. Fine scale mapping of the breast cancer 16q12 locus. Hum Mol Genet 2010, 19:2507-2515  doi: 10.1093/hmg/ddq122

Meyer KB, Maia AT, O’Reilly M, Ghoussaini M, Prathalingam R, Porter-Gill P, Ambs S, Prokunina-Olsson L, Carroll J, Ponder BAJ. A functional variant at a prostate cancer predisposition locus at 8q24 is associated with PVT1 expression. PLoS Genetics, 21 July 2011, 7(7): e1002165 .

Azzato EM, Lee AX, Teschendorff A, Ponder BAJ, Pharoah P, Caldas C, Maia AT*. Common germline variation of C1qA in relation to breast cancer risk and survival. British Journal of Cancer. 2010 Apr 13;102(8):1294-1299.

Maia AT*, Spiteri I, Lee AJX, Jones L, O’Reilly M, Caldas C and Ponder BAJ. Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Breast Cancer Research, 2009 Dec; 11(6):R88 Epub.

Dunning AM, Healey CS, Baynes C, Maia AT, Scollen S, Vega A, et al. Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics 2009 Mar 15; 18(6): 1131-1139.

Meyer KB#, Maia AT#, O’Reilly M, Teschendorff AE, Chin SF, Caldas C, Ponder BAJ. Predisposition to breast cancer due to overexpression of FGFR2. PLoS Biology, 2008 May 6; 6 (5) pp. e108.

# Co-first author, *Corresponding author

Team Members


Project Grants

2015 – 2017 – 1st Prize Maratona da Saúde, “Unveiling the Cis-Regulation at the Centre of Breast Cancer Susceptibility”;

2013-2015 Foundation for Science and Technology, Portugal, Project Grant; “Cis-regulation of somatic mutations in breast and ovarian cancers”

2012-2017 Marie Curie Career Integration Grant; “Genetic Control of Gene Expression in Cancer Risk”
Marie Curie Career Integration Grant FP7-PEOPLE-2011-CIG/PCIG10-GA-2011-303745;

Lab Members


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