Dr Maya Ghoussaini


Position: Research Associate
Personal home page: http://www.oncology.cam.ac.uk/

PubMed journal articles - click here

Research description

Our main focus is the identification of genetic variants influencing susceptibility to breast cancer. We have recently identified seventy seven new breast cancer susceptibility loci using a genome-wide approach. In order to find the disease-causative variant, we follow a fine mapping approach wfollowed by functional characterisation of the region of interest. This will aid in identifying the causal variant(s) and reveal the defective molecular mechanisms and target genes in cancer susceptibility and pathogenesis.

Keywords
DNA Genotyping and Sequencing
Bioinformatic Tools
Robotics
Statistical Analysis
mg458
Recent publications:
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Key publications

Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, Johnson N, Ghoussaini M, Hopper JL, Southey MC, Apicella C, et al. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum Mol Genet. 2015 Feb 4. pii: ddv035. Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, ..., Cai Q, Shah M, Ghoussaini M, Kang D, Choi JY, Park SK, Noh DY, Hartman M, et al. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1. Am J Hum Genet. 2015 Jan 8;96(1):5-20. Ghoussaini, M.*, Edwards S. L*., Michailidou K., Nord S.,..., Carroll J., Caldas C., Brown M. A., Lupien M., Kristensen V. N., Pharoah P. D., Chenevix-Trench G., French J. D., Easton D. F.and Dunning A. M. (2014). Evidence That Breast Cancer Risk at the 2q35 Locus Is Mediated through Igfbp5 Regulation. Nat. Commun. 2014: 4999.(*: Joint first author) Lin, W. Y., Camp N. J., Ghoussaini M., Beesley J., Michailidou K.,..., Hall P., Chenevix-Trench G., Dunning A., Easton D. F. and Cox A. (2014). Identification and Characterization of Novel Associations in the Casp8/Als2cr12 Region on Chromosome 2 with Breast Cancer Risk. Hum Mol Genet, pii: ddu431 Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK,.... Wang Q, Signorello LB, Cai Q, Pharoah PD, Ghoussaini M, Harrington P, Tyrer J, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Hui M, Lim WY, et al. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1. Am J Hum Genet. 2013 Nov 23. doi:pii: S0002-9297(13)00483-7. Ghoussaini M, Pharoah PD, and Easton DF: Inherited Genetic Susceptibility to Breast Cancer: The Beginning of the End or the End of the Beginning? Am J Pathol 2013, 183(4):1038-51. French JD*, Ghoussaini M*, Edwards SL*, Meyer KB*, Michailidou K, ... , Godwin AK, Shen CY, Hsiung CN, Wu PE, Chen ST, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Nevanlinna H, Brown MA, Chenevix-Trench G, Easton DF, and Dunning AM: Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet 2013, 92:489-503. *Joint first author? Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, ..., Sellers TA, Ficarazzi F, Barile M, and Ziogas A: Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 2013, 45:371-372 Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, ...,Bacot F, Tessier DC, Kote-Jarai Z, and Easton DF: Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet 2013, 45:385-2 Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK,...,Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, and Easton DF: Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013, 45:353-2 Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, and Froguel P: Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. J Clin Invest 2013, 123:3037-3041 Warren H, Dudbridge F, Fletcher O, ...,Pharoah P, Blows FM, Dunning AM, Ghoussaini M, Ashworth A, Swerdlow A, Jones M, Schoemaker M, Easton DF, Humphreys M, Wang Q, Peto J, and dos-Santos-Silva I: 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 2012, 21:1783-1791 Hein R, Ahmed S, Maranian M, .., Ghoussaini M, Pharoah PDP, ..., Morrison J, Chang-Claude J, Easton DF, Dunning AM. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One. 2012;7(8). Ghoussaini M., Fletcher O., Michailidou K, Turnbull C, Schmidt M, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, ..., Ponder BAJ, Chenevix-Trench G., Pharoah PDP,Lathrop M., Dunning AM., Rahman N, Peto J, Easton DF Genome-wide association analyses identifies three new breast cancer susceptibility loci. Nat Genet, 2012, Jan 22. Meyer KB, Maia AT, O'Reilly M, Ghoussaini M, Prathalingam R, Porter-Gill P, Ambs S, Prokunina-Olsson L, Carroll J, Ponder BA (2011) A functional variant at a prostate cancer predisposition locus at 8q24 is associated with PVT1 expression. PLoS Genet 7 : e1002165 Antoniou A., Wang X, Fredericksen Z, McGuffog L, Tarrell R, Sinilnikova O, Healey S6, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, EMBRACE1, Peock S et al. A genome- wide association study identifies a 19p13 locus that modifies the risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet. 2010 Sept 19. Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier L, Michaud J, Froguel P, David Meyre. Analysis of the SIM1 contribution to polygenic obesity in the French population. Obesity (Silver Spring). 2010 Jan 14. Ghoussaini M and Pharoah PD. Polygenic susceptibility to breast cancer: current state-of-the-art. Future Oncol. Review. 2009 Jun;5(5):689-701. Ahmed S*, Thomas G*, Ghoussaini M*,, Healey CS*, Humphreys MK*, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009 May;41(5):585-90. *Joint first author? Badii R, Bener A, Zirie M, Al-Rikabi A, Simsek M, Al-Hamaq AO, Ghoussaini M, Froguel P, Wareham NJ. Lack of association between the Pro(12)Ala polymorphism of the PPAR-gamma2 gene and type 2 diabetes mellitus in the Qatari consanguineous population. Acta Diabetol. 2007 Sep Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. Diabetes, 2009 Jul;58(7):1682-9. Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver K, Pooley K A., Ramus S J, Kru?ger Kjaer S, Hogdall E, DiCioccio RA, Whittemore AS, Gayther, SA, Giles GG, Guy M, Edwards SM, Morrison J, Southey MC, Severi G, Donovan JL., Hamdy FC, Dearnaley DP, Muir KR, Smith C, Bagnato M, Ardern-Jones AT, Hall AL, O?Brien LT, Gehr-Swain BN, Wilkinson RA, Brown PM, Lophatananon A, The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons? Section of Oncology, The UK ProtecT Study Collaborators, English DR, Hopper JL, Neal DE, Pharoah PDP, Ponder BA.J., Eeles R A., Easton D F, Dunning AM. ? Multiple loci with different cancer-specificities within the 8q24 ?gene desert?. J Natl Cancer Inst. 2008 Jul 2;100(13):962-6. Ghoussaini M, Vatin V, Lecoeur C, Abkevich V, Younus A, Samson C, Wachter C, Heude B, Tauber M, Tounian P, Hercberg S, Weill J, Levy-Marchal C, Le Stunff C, Bougne?res P, Froguel P, Meyre D. Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity. J Clin Endocrinol Metab. 2007 Nov;92(11):4403-9.   Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG; The Breast Cancer Susceptibility Collaboration (UK), Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010 May 9. Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, Ghoussaini M, Wachter C, Hercberg S, Charpentier G, Patsch W, Pattou F, Charles M.A, Tounian P, Cle?ment K, Jouret B, Weill J, Maddux B.A, Goldfine I.D, Walley A, Boutin P, Dina C and Froguel F. Variants of the chromosome 6q23.2 ENPP1 (PC-1) gene are associated with both childhood and adult obesity and also increase the risk of glucose intolerance and type 2 diabetes in European populations. Nat Genet. 2005 Aug;37(8):863-7. Ghoussaini M, Meyre D, Lobbens S, Charpentier G, Cle?ment K, Charles MA, Tauber M , Weill J, Froguel. Implication of the Pro12Ala variant of the PPAR-?2 gene in type 2 diabetes and obesity in the French population. BMC Med Genet. 2005 Mar 22;6:11.