null William Foulkes, MBBS, PhD
hereditary cancer • DICER1 pleiotropic tumor syndrome • genetic predisposition • breast cancer • colorectal cancer • SCCOHT • multiple primary tumours
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 tumours, such as pleuropulmonary blastoma, pituitary blastoma or cystic nephroma, early in their life, and I oversee a Registry & Biobank that collects samples and data to support research on the rare small cell carcinoma of the ovary, hypercalcemic type. As a researcher-clinician, it is my belief that advances in understanding genetic predisposition to cancer will result in improved prevention and treatment options for our patients and their families.
SCCOHT and SMARCA4 Registry & Biobank
Foulkes WD, Stefansson IM, Chappuis PO, Bégin LR, Goffin JR, Wong N, Trudel M, Akslen LA. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst. 2003 Oct 1;95(19):1482-5. 674 citations, Web of Science (WOS); 1074 citations, Google scholar; IF: 13.506.
Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. 153 citations, Web of Science (WOS); 220 citations, Google scholar; IF: 11.205.
Witkowski L, Carrot-Zhang J, Albrecht S, …38 others… Foulkes WD. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet, 2014; 46(5):438-43. 183 citations, Web of Science (WOS); 243 citations, Google scholar; IF: 27.603.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, … 13 others…, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Invest. 2019; 130(3):1479-1490. 10 citations, Web of Science (WOS); 17 citations, Google scholar; IF: 14.804.
Nadaf J, de Kock L, Chong AS, Korbonits M, Thorner P, Benlimame N, Fu L, Peet A, Warner J, Ploner O, Shuangshoti S, Albrecht S, Hamel N, Priest JR, Rivera B, Ragoussis J, Foulkes WD. Molecular characterization of DICER1-mutated pituitary blastoma. Acta Neuropathol. 2021; 141: 929–944. 2 citations, Web of Science (WOS); 3 citations Google scholar; IF:17.088.