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Functional Genomics of Cancer Laboratory

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Functional Genomics of Cancer Laboratory


About the FGCL

The Functional Genomics of Cancer Laboratory investigates the influence of cis-regulatory variants in the susceptibility to cancer and in the modulation of tumour characteristics. We integrate data from genetic variation, extensive annotation of functional genomic elements along with allelic expression to resolve the impact of genetic variants on gene expression.

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Maia AT, Sammut SF, Jacinta-Fernandes A, Chin SF. Big Data in Cancer Genomics. Current Opinion in Systems Biology. 2017 Jul 24. Review. doi: 10.1016/j.coisb.2017.07.007.

Faleiro I, Leão R, Binnie A, de Mello RA, Maia AT, Castelo-Branco P. Epigenetic therapy in urologic cancers: an update on clinical trials. Oncotarget. 2017;8(7):12484-12500. doi: 10.18632/oncotarget.14226. Review.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24(1):308-16. doi: 10.1158/1055-9965.EPI-14-0532. Epub 2014 Oct 21.

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

Project Grants

2018-2021 Project IC&DT – AAC n.º 02/SAICT/2017/031477 – DEvoCancer – “Decoding breast cancer evolution through mutant allele differential expression signatures”, Foundation for Science and Technology/Algarve2020/FEDER, PI Ana-Teresa Maia.

2018-2021 Project IC&DT – AAC n.º 02/SAICT/2017/030895 – Intergen – “INnovating breast cancer GWAS through inTEgRation of functional GENomics”, Foundation for Science and Technology/Algarve2020/Lisboa2020/FEDER, PI Joana Xavier.

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;


Representative Images