The focus of my laboratory is on the identification of the drivers of special histological types of breast cancer, rare forms of the disease that together account for up to 25 percent of all invasive breast cancers, using a combination of massively parallel sequencing and functional genomics approaches. These rare forms of breast cancer have been shown to be less transcriptomically and genomically heterogeneous than the common type of the disease, the so-called invasive ductal carcinomas.


Dhomen N, Reis-Filho JS, da Rocha Dias S, Hayward R, Savage K, Delmas V, Larue L, Pritchard C, Marais R. Oncogenic Braf induces melanocyte senescence and melanoma in mice. Cancer Cell. 2009 Apr 7;15(4):294-303. doi: 10.1016/j.ccr.2009.02.022.

Weigelt B, Mackay A, A'hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Lancet Oncol. 2010 Apr;11(4):339-49. doi: 10.1016/S1470-2045(10)70008-5. Epub 2010 Feb 22.

Mackay A, Weigelt B, Grigoriadis A, Kreike B, Natrajan R, A'Hern R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Microarray-based class discovery for molecular classification of breast cancer: analysis of interobserver agreement. J Natl Cancer Inst. 2011 Apr 20;103(8):662-73. doi: 10.1093/jnci/djr071. Epub 2011 Mar 18.

Kohsaka S, Shukla N, Ameur N, Ito T, Ng CK, Wang L, Lim D, Marchetti A, Viale A, Pirun M, Socci ND, Qin LX, Sciot R, Bridge J, Singer S, Meyers P, Wexler LH, Barr FG, Dogan S, Fletcher JA, Reis-Filho JS, Ladanyi M. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nat Genet. 2014 Jun;46(6):595-600. doi: 10.1038/ng.2969. Epub 2014 May 4.

Weinreb I, Piscuoglio S, Martelotto LG, Waggott D, Ng CK, Perez-Ordonez B, Harding NJ, Alfaro J, Chu KC, Viale A, Fusco N, da Cruz Paula A, Marchio C, Sakr RA, Lim R, Thompson LD, Chiosea SI, Seethala RR, Skalova A, Stelow EB, Fonseca I, Assaad A, How C, Wang J, de Borja R, Chan-Seng-Yue M, Howlett CJ, Nichols AC, Wen YH, Katabi N, Buchner N, Mullen L, Kislinger T, Wouters BG, Liu FF, Norton L, McPherson JD, Rubin BP, Clarke BA, Weigelt B, Boutros PC, Reis-Filho JS. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. Nat Genet. 2014 Sep 21. doi: 10.1038/ng.3096.

Selected Achievements

Future Leaders in Cancer Research Prize, Cancer Research UK (2010)

Ramzi Cotran Young Investigator Award,  United States and Canadian Academy of Pathology (2010)

Young Cancer Researcher Award — Highly Commended, European Association for Cancer Research (2008)

CL Oakley Lectureship, Pathological Society of Great Britain and Ireland (2007)

Translational Research Award, British Association for Cancer Research (2007)

Sir Anthony Driver Award, Breakthrough Breast Cancer, Institute of Cancer Research (2005)