Human Oncology & Pathogenesis Program
The Jorge Reis-Filho Lab
My laboratory focuses on the discovery of the underlying genetic traits and dependencies of breast cancers based on a combination of traditional pathologic approaches with genomics, functional genomics and artificial intelligence to devise a taxonomy system for these tumors that more accurately reflects their biology and therapeutic vulnerabilities.
Martelotto LG, Baslan T, Kendall J, Geyer FC, Burke KA, Spraggon L, Piscuoglio S, Chadalavada K, Nanjangud G, Ng CK, Moody P, D’Italia S, Rodgers L, Cox H, da Cruz Paula A, Stepansky A, Schizas M, Wen HY, King TA, Norton L, Weigelt B, Hicks JB, Reis-Filho JS. Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples. Nat Med 2017; 23:376-385. PMCID: PMC5608257.
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, Abida W, Juluru K, De Bruijn I, Hou C, Venn O, Lim R, Anand A, Maddala T, Gnerre S, Vijaya Satya R, Liu Q, Shen L, Eattock N, Yue J, Blocker AW, Lee M, Sehnert A, Xu H, Hall MP, Santiago-Zayas A, Novotny WF, Isbell JM, Rusch VW, Plitas G, Heerdt AS, Ladanyi M, Hyman DM, Jones DR, Morrow M, Riely GJ, Scher HI, Rudin CM, Robson ME, Diaz LA Jr, Solit DB, Aravanis AM, Reis-Filho JS. High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. Nat Med 2019; 25:1928-1937. PMCID: PMC7061455.
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; 46:1166-9.
Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B, Reis-Filho JS. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nat Commun 2018; 9:3533. PMCID: PMC6117336.
Geyer FC, Li A, Papanastasiou AD, Smith A, Selenica P, Burke KA, Edelweiss M, Wen HC, Piscuoglio S, Schultheis AM, Martelotto LG, Pareja F, Kumar R, Brandes A, Fan D, Basili T, Da Cruz Paula A, Lozada JR, Blecua P, Muenst S, Jungbluth AA, Foschini MP, Wen HY, Brogi E, Palazzo J, Rubin BP, Ng CKY, Norton L, Varga Z, Ellis IO, Rakha EA, Chandarlapaty S, Weigelt B, Reis-Filho JS. Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas. Nat Commun 2018; 9:1816. PMCID: PMC5940840.
Jorge S. Reis-Filho, MD, PhD
- Physician-scientist Jorge Reis-Filho focuses on the development of a predictive molecular classification for rare types of breast cancer and characterization of intratumor genetic heterogeneity in breast cancers.
- MD, University of Porto (Portugal) and Federal University of Parana (Curitiba, Brazil)
- PhD, University of Minho (Braga, Portugal) and The Institute of Cancer Research (London, UK)
- 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)
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Doctors and faculty members often work with pharmaceutical, device, biotechnology, and life sciences companies, and other organizations outside of MSK, to find safe and effective cancer treatments, to improve patient care, and to educate the health care community.
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Jorge S. Reis-Filho discloses the following relationships and financial interests:
Ownership / Equity Interests; Provision of Services
Ownership / Equity Interests; Provision of Services
Provision of Services
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