Our Publications


Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Invest. 2020 Feb 10; pii: 130206. doi: 10.1172/JCI130206. [Epub ahead of print]

McCluggage WG, Apellaniz-Ruiz M, Chong AL, Hanley KZ, Velázquez Vega JE, McVeigh TP, Foulkes WD. Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations. Am J Surg Pathol. 2020 Jan 27. doi: 10.1097/PAS.0000000000001442. doi: 10.1097/PAS.0000000000001442. [Epub ahead of print]

Chong AS, Chong G, Foulkes WD, Saskin A. Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. Hum Mutat. 2020 Jan 9. doi: 10.1002/humu.23978. doi: 10.1002/humu.23978. [Epub ahead of print]

de Kock L, Yoon JY, Apellaniz-Ruiz M, Pelletier D, McCluggage WG, Stewart CJR, Dickson BC, Rouzbahman M, Clarke BA, Foulkes WD. Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Mod Pathol. 2020 Jan 3. doi: 10.1038/s41379-019-0436-0. [Epub ahead of print]


de Kock L, Wu MK, Foulkes WD. Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. Hum Mutat. 2019 Nov;40(11):1939-1953. doi: 10.1002/humu.23877. Epub 2019 Aug 17.

de Kock L, Hillmer M, Wagener R, Soglio DB, Sabbaghian N, Siebert R, Priest JR, Miller M, Foulkes WD. Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. Genes Chromosomes Cancer. 2019 Aug;58(8):602-604. doi: 10.1002/gcc.22728. Epub 2019 Jan 28

Foulkes WD, Polak P. Journey’s End: the quest for BRCA-like hereditary breast cancer genes is nearly over. Ann Oncol. 2019 Jul 1;30(7):1023-1025. doi: 10.1093/annonc/mdz152.

Apellaniz-Ruiz M, Segni M, Kettwig M, Gluer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD. Mesenchymal hamartoma of the liver and DICER1 syndrome. N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169.

Xue Y, Meehan B, Fu Z, Wang XQD, Fiset P-O, Rieker R, Levins C, Kong T, Zhu X, Morin G, Skerritt L, Herpel E, Venneti S, Martinez D, Judkins AR, Jung S, Camilleri-Broet S, Gonzalez A-V, Guiot M-C, Lockwood W, Spicer J, Agaimy A, Pastor W, Dostie J, Rak J, Foulkes WD, Huang S. SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer. Nat Commun. 2019 Feb;10(1):557

Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD. Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures. Hum Mutat. 2019 Jan;40(1):36-41


Chong AS, Fahiminiya S, Strother D, Priest J, Albrecht S, Rivera B, Foulkes WD. Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? Pediatr Blood Cancer. 2018 Oct;65(10):e27294.

de Kock L, Fahiminiya S, Fiset PO, Astigarraga I, Nguyen VH, Albrecht S, Foulkes WD. Infantile Pulmonary Teratoid Tumor. N Engl J Med. 2018 Jun 7;378(23):2238-2240

de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018

Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD. Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion. Eur J Endocrinol. 2018 Feb;178(2):K11-K19.

Rivera B, Polak P, Foulkes WD. Monogenic Diseases of DNA Repair. N Engl J Med. 2018 Feb 1;378(5):491

Wu MK, Vujanic GM, Fahiminiya S, Watanabe N, Thorner PS, O’Sullivan MJ, Fabian MR, Foulkes WD. Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol. 2018 Jan;31(1):169-178.


Polak P, Kim J, Tiao G, Foulkes WD, et al (2017) . A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat Genet. 2017 Oct;49(10):1476-1486.

Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, Foulkes WD, et al (2017). Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene. 2017 Jul 20;36(29):4161-4170.

Witkowski L, Donini N,  Foulkes WD (2017). et al (2017). The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. Fam Cancer. 2017 Jul;16(3):395-399.

Wu MK, Vujanic GM, Fahiminiya S, Watanabe N, Foulkes WD, et al (2017). Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol. 2018 Jan;31(1):169-178.

Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Hamel N, Foulkes WD, et al (2017). Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Cancer Res. 2017 Aug 15;77(16):4517-4529.

de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Foulkes WD, et al (2017). Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. Br J Cancer. 2017 Jun 6;116(12):1621-1626.


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. 2016 Jul;142(1):190-8. Epub 2016 Apr 19.

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. 2016 Jun;141(3):454-60. 

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 germline 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.