Our Publications


Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, et al (2016). Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathol 131, 847-63.

Foulkes WD, Gore M, McCluggage WG (2016). Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment. Gynecol Oncol [Epub ahead of print]

Witkowski L, Goudie C, Ramos P, Boshari T, et al (2016). The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. Gynecol Oncol [Epub ahead of print]

Wu MK, de Kock L, Conwell LS, Stewart CJ, et al (2016). Functional characterization of multiple DICER1 mutations in an adolescent. Endocr Relat Cancer 23(2):L1-5.

de Kock L, Wang YC, Revil T, Badescu D, Rivera B, et al (2016). High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet 53(1):43-52. Featured on the cover of the January 2016 issue.

Foulkes WD, Knoppers BM, Turnbull C. Population genetic testing for cancer susceptibility: founder mutations to genomes (2016). Nat Rev Clin Oncol 13(1):41-45. Review


Li L, Hamel N, Baker K, et al (2015). A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. J Med Genet 52, 348-52.

Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, et al (2015). Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 47, 643-6.

de Kock L, Druker H, Weber E, et al (2015). Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. Hum Pathol 46, 917-22.

Castellsagué E, Liu J, Volenik A, Giroux S, et al (2015). Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. Clin Genet 87, 536-42.

Easton DF, Pharoah PD, Foulkes WD, et al (2015) Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372, 2243-57.

Rivera B, Castellsagué E, Bah I, et al. Bi-allelic NTHL1 mutations in a woman with multiple primary tumors (2015). New Engl J Med 12;373(20):1985-6


Witkowski L, Carrot-Zhang J, Albrecht S, et al (2014). Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 46, 438-443.

Foulkes WD, Priest JR and Duchaine TF (2014). DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14, 662-672.

de Kock L, Sabbaghian N, Plourde F, et al (2014). Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathologica 128, 111-122.

Antoniou AC, Casadei S, Foulkes WD, et al (2014). Breast-cancer risk in families with mutations in PALB2. N Engl J Med 7, 497-506

de Kock L, Sabbaghian N, Druker H, et al (2014). Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathologica 128, 583-595.


Wu MK, Sabbaghian N, Xu B, et al (2013). Biallelic DICER1 mutations occur in Wilms tumours. J Pathol 230, 154-164.

Witkowski L, Mattina J, Schonberger S, et al (2013). DICER1 hotspot mutations in non-epithelial gonadal tumours. Br J Cancer 109, 2744-2750.

Witkowski L, Lalonde E, Zhang J, et al (2013). Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. J Pathol 231, 35-43.

Foulkes WD and Shuen AY (2013). In brief: BRCA1 and BRCA2. J Pathol 230, 347-349.

de Kock L, Plourde F, Carter MT et al (2013). Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. Pediatr Blood Cancer 60, 2091-2092.


van der Merwe NC, Hamel N, Schneider SR, et al (2012). A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa. Clin Genet 81, 179-184.

Sabbaghian N, Hamel N, Srivastava A, et al (2012). Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet 49, 417-419.

Osher DJ, de Kock L, Michils G, et al (2012). Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families. Br J Cancer 106, 1460-1463.

Heravi-Moussavi A, Anglesio MS, Cheng SW et al (2012). Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med 366, 234-242.

Choong CS, Priest JR, and Foulkes WD (2012). Exploring the endocrine manifestations of DICER1 mutations. Trends Mol Med 18, 503-505.


Shuen AY and Foulkes WD (2011). Inherited mutations in breast cancer genes--risk and response. J Mammary Gland Biol Neoplasia 16, 3-15.

Rio Frio T, Bahubeshi A, Kanellopoulou C, et al (2011). DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. JAMA 305, 68-77.

Raskin L, Schwenter F, Freytsis M, et al (2011). Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin Genet 79, 512-522.

Hamel N, Feng BJ, Foretova L, et al (2011). On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 19, 300-306.

Foulkes WD, Bahubeshi A, Hamel N, et al (2011). Extending the phenotypes associated with DICER1 mutations. Hum Mutat 32, 1381-1384.

Bahubeshi A, Tischkowitz M, and Foulkes WD (2011). miRNA processing and human cancer: DICER1 cuts the mustard. Sci Transl Med 3, 111ps146.