Selected Bibliography

Our Publications

2024

Chong AL, Thorner P, Ellis M, Swensen J, Benlimame N, Fiset PO, Gatalica Z, Evans MG, Foulkes WD. Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer. Am J Surg Pathol. 2023 Dec 5. doi: 10.1097/PAS.0000000000002162. Online ahead of print.

Pelletier D, Rath A, Sabbaghian N, Pelmus M, Hudon C, Jacob K, Witowski L, Saskin A, Heinen CD, Foulkes WD. Functional and phenotypic consequences of an unusual inversion in MSH2. Fam Cancer. 2023 Nov 14. doi: 10.1007/s10689-023-00350-3. Online ahead of print.

Tessier-Cloutier B, Kommoss FKF, Kolin DL, Němejcová K, Smith D, Pors J, Stewart CJR, McCluggage WG, Foulkes WD, von Deimling A, Köbel M, Lee CH. Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation. Mod Pathol. 2023 Nov 3;37(1):100374. doi: 10.1016/j.modpat.2023.100374. Online ahead of print.

2023

Apellaniz-Ruiz M, Sabbaghian N, Chong AL, de Kock L, Cetinkaya S, Bayramoğlu E, Dinjens WNM, McCluggage WG, Wagner A, Yilmaz AA, Foulkes WD. Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis. Fam Cancer. 2023 Oct;22(4):487-493. doi: 10.1007/s10689-023-00336-1. Epub 2023 May 30.

Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22.

Pelletier D, Chong AL, Wu M, Witkowski L, Albert S, Sabbaghian S, Fabian M, Foulkes WD. DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility. NAR Cancer. 2023 Jun 16;5(3):zcad030. doi: 10.1093/narcan/zcad030. eCollection 2023 Sep.

Pelletier D, Rivera B, Fabian MR, Foulkes WD. miRNA biogenesis and inherited disorders: clinico-molecular insights. Trends Genet. 2023 May;39(5):401-414. doi: 10.1016/j.tig.2023.01.009. Epub 2023 Feb 28.

Han H, Renzi S, Larouche V, Faury D, Langlois S, Sinnett D, Gomez A, Karamchandani J, Crevier L, Foulkes WD, Jabado N. Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors. Neurooncol Adv. 2023 Apr 14;5(1):vdad029. doi: 10.1093/noajnl/vdad029. eCollection 2023 Jan-Dec.

Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. SMARCA4-associated schwannomatosis. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14.

Kommoss FKF, Chong AS, Chong AL, Pfaff E, Jones DTW, Hiemcke-Jiwa LS, Kester LA, Flucke U, Gessler M, Schrimpf D, Sahm F, Clarke BA, Stewart CJR, Wang Y, Gilks CB, Kommoss F, Huntsman DG, Schüller U, Koelsche C, Glenn McCluggage W, von Deimling A, Foulkes WD. Genomic characterization of DICER1-associated neoplasms uncovers molecular classes. Nat Commun. 2023 Mar 25;14(1):1677. doi: 10.1038/s41467-023-37092-w.

Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD. Long-term tumour dormancy in a BRCA1 heterozygote. J Med Genet. 2023 Jan;60(1):33-35. doi: 10.1136/jmedgenet-2021-108269. Epub 2022 Jan 17.

2022

Chen OJ, Castellsagué E, Moustafa-Kamal M, Nadaf J, Rivera B, Fahiminiya S, Wang Y, Gamache I, Pacifico C, Jiang L, Carrot-Zhang J, Witkowski L, Berghuis AM, Schoenberger S, Schneider D, Hillmer M, Bens S, Siebert R, Stewart CJR, Zhang Z, Chao WC, Greenwood CMT, Barford D, Tischkowitz M, Majewski J, Foulkes WD, Teodoro JG. Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Cancer Res. 2022 Oct 4;82(19):3499-3515. doi: 10.1158/0008-5472.CAN-21-3956.

Chong AS, Apellaniz-Ruiz M, de Kock L, Bouron-Dal Soglio D, Doyle WR, Priest JR, Rivera B, Foulkes WD. Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1. J Med Genet. 2022 Jul;59(7):723-726. doi: 10.1136/jmedgenet-2021-107887. Epub 2021 Sep 20.

Kommoss FK, Tessier-Cloutier B, Witkowski L, Forgo E, Koelsche C, Köbel M, Foulkes WD, Lee CH, Kolin DL, von Deimling A, Howitt BE. Cellular context determines DNA methylation profiles in SWI/SNF-deficient cancers of the gynecologic tract. J Pathol. 2022 Jun;257(2):140-145. doi: 10.1002/path.5889. Epub 2022 Mar 25.

Thorner PS, Chong AS, Nadaf J, Benlimame N, Marrano P, Chami R, Fu L, Foulkes WD. PRAME protein expression in DICER1-related tumours. J Pathol Clin Res. 2022 May;8(3):294-304. doi: 10.1002/cjp2.264. Epub 2022 Mar 16.

Tessier Cloutier B, Kleinman CL, Foulkes WD. SWI/SNF-deficient undifferentiated malignancies: where to draw the line(†). J Pathol. 2022 Feb;256(2):139-142. doi: 10.1002/path.5836. Epub 2021 Dec 16.

Nogué C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, Lázaro C, Foulkes WD, Brunet J, Rivera B. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol. 2022 Jan;143(1):115-117. doi: 10.1007/s00401-021-02387-z. Epub 2021 Nov 25.

2021

Chong AS, Han H, Albrecht S, Weon YC, Park SK, Foulkes WD. DICER1 syndrome in a young adult with pituitary blastoma. Acta Neuropathol. 2021 Dec;142(6):1071-1076. doi: 10.1007/s00401-021-02378-0. Epub 2021 Oct 22.

Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P. Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8.

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 Jun;141(6):929-944. doi: 10.1007/s00401-021-02283-6. Epub 2021 Mar 1.

Foulkes WD. The ten genes for breast (and ovarian) cancer susceptibility. Nat Rev Clin Oncol. 2021 May;18(5):259-260. doi: 10.1038/s41571-021-00491-3.

Shorstova T, Foulkes WD, Witcher M. Achieving clinical success with BET inhibitors as anti-cancer agents. Br J Cancer. 2021 Mar 15. doi: 10.1038/s41416-021-01321-0. Br J Cancer. 2021 Apr;124(9):1478-1490. doi: 10.1038/s41416-021-01321-0. Epub 2021 Mar 15.

Chong AS, Nikiforov YE, Condello V, Wald AI, Nikiforova MN, Foulkes WD, Rivera B. Prevalence and spectrum of DICER1 mutations in adult-onset thyroid nodules with indeterminate cytology. J Clin Endocrinol Metab. 2021 Mar 25;106(4):968-977. doi: 10.1210/clinem/dgab025.

2020

Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Witcher M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE. Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines. Clin Cancer Res. 2020 Aug 1;26(15):3908-3917. doi: 10.1158/1078-0432.CCR-19-3797. Epub 2020 Mar 10. Review.

Apellaniz-Ruiz M, Cullinan N, Grant R, Marrano P, Priest JR, Thorner PS, Goudie C, Foulkes WD. DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma. J Pathol Clin Res. 2020 Jul;6(3):185-194. doi: 10.1002/cjp2.164. Epub 2020 Mar 28

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 Jun;33(6):1207-1219. doi: 10.1038/s41379-019-0436-0. Epub 2020 Jan 3

Behl S, Hamel N, de Ladurantaye M, Lepage S, Lapointe R, Mes-Masson AM, Foulkes WD. Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. Sci Rep. 2020 Apr 16;10(1):6491. doi: 10.1038/s41598-020-63100-w.

Chong AS, Chong G, Foulkes WD, Saskin A. Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. Hum Mutat. 2020 Apr;41(4):749-752. doi: 10.1002/humu.23978. Epub 2020 Jan 16

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 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.

2019

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

2018

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
May;57(5):223-230.

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.

2017

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.

2016

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

2015

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

2014

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.