null William Foulkes, MBBS, PhD

Senior Scientist, RI-MUHC

Cancer Research Program

Centre for Translational Biology

Professor, Department of Medicine, Faculty of Medicine, McGill University

Department of Medicine, Division of Genetics, MUHC



hereditary cancer • DICER1 pleiotropic tumor syndrome • genetic predisposition • breast cancer • colorectal cancer

Research Focus

My research focuses on inherited predisposition to cancer. Throughout my career, I have worked to discover the genetic lesions predisposing to cancer development in families where clustering of certain cancer types is observed. Over the years, I have studied genes predisposing to the cancer of the breast, colon, ovary and prostate. Furthermore, I am currently investigating the mechanism by which inherited mutations in the gene DICER1 predispose infants to develop a range of rare tumors such as pleuropulmonary blastoma, pituitary blastoma or cystic nephroma early in their life. As a researcher-clinician, it is my belief that advances in understanding genetic predisposition to cancer will results in improved prevention and treatment options for our patients and their families.

Selected Publications

Click on Pubmed to see my current publications list

  • Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J,Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, FoulkesWD, Narod SA, Akbari MR. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet. 2015 Apr 27. doi: 10.1038/ng.3284. [Epub ahead of print] PMID: 25915596.

  • de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD. (2014). Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathologica. 128(1): 111-22. PMID: 24839956.

  • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. (2014). Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nature Genetics. 46(5): 438-43. PMID: 24658002.

  • Rio Frio T , Bahubeshi A , Kanellopoulou C , Hamel N , Niedziela M , Sabbaghian N , Pouchet C , Gilbert L , O'Brien PK , Serfas K , Broderick P , Houlston RS , Lesueur F , Bonora E , Muljo S , Schimke RN , Bouron-Dal Soglio D , Arseneau J , Schultz KA , Priest JR , Nguyen VH , Harach HR , Livingston DM , Foulkes WD , Tischkowitz M. (2011). DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.. JAMA : the journal of the American Medical Association. 305(1) PMID: 21205968.

  • Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD. (2010). Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. The New England Journal of Medicine. 363(27): 2628-37. PMID: 21205968.