We were invited to contribute to a new volume in the 5th edition of the WHO Classification of Tumours series. This inaugural volume summarises genetic tumour syndromes and recognises two genetic disorders that our lab has discovered.
The Laboratory of Computational Neuro-Oncology moved on 1 June 2023 to Switzerland and is now part of the Swiss Institute for Experimental Cancer Research (ISREC) within the School of Life Sciences at the École Polytechnique Fédérale de Lausanne (EPFL).
Our research group will continue to study in collaboration with PNOC clinical cancer genomes to improve therapy for patients with high-grade gliomas, map the genetic and cellular origin of brain tumours, develop novel approaches to enable precision medicine for patients with limited tissue availability, and study response to targeted therapies based on molecular profiling of liquid biopsies.
Jackson ER, Duchatel RJ, Staudt DE, Persson ML, Mannan A, Yadavilli S, Parackal S, Game S, Chong WC, Jayasekara WSN, Le Grand M, Kearney PS, Douglas AM, Findlay IJ, Germon ZP, McEwen HP, Beitaki TS, Patabendige A, Skerrett-Byrne DA, Nixon B, Smith ND, Day B, Manoharan N, Nagabushan S, Hansford JR, Govender D, McCowage GB, Firestein R, Howlett M, Endersby R, Gottardo NG, Alvaro F, Waszak SM, Larsen MR, Colino-Sanguino Y, Valdés-Mora F, Rakotomalala A, Meignan S, Pasquier E, Andre N, Hulleman E, Eisenstat DD, Vitanza NA, Nazarian J, Koschmann C, Mueller S, Cain JE, Dun MD. ONC201 in combination with paxalisib for the treatment of H3K27-altered diffuse midline glioma. Cancer Res. 2023 May 5. http://dx.doi.org/10.1158/0008-5472.CAN-23-0186
Genetic risk inversely associated with somatic mutation burden
Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Weischenfeldt J, He HH, Hung RJ, Hovens CM, Boutros PC. A polygenic two-hit hypothesis for prostate cancer. J Natl Cancer Inst (2023). doi:10.1093/jnci/djad001.
Houlahan KE, Yuan J, Schwarz T, Livingstone J, Fox NS, Jaratlerdsiri W, van Riet J, Taraszka K, Kurganovs N, Zhu H, Penington JS, Jung CH, Yamaguchi TN, Jiang J, Heisler LE, Jovelin R, Ramanand SG, Bell C, O’Connor E, Mutambirwa SBA, Seo JH, Costello AJ, Pomerantz MM, Pope BJ, Zaitlen N, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Bornman RMS, Gusev A, Lolkema MP, Weischenfeldt J, Hung RJ, He HH, Hayes VM, Pasaniuc B, Freedman ML, Hovens CM, Mani RS, Boutros PC. Germline determinants of the prostate tumor genome. bioRxiv. 2022 doi:10.1101/2022.11.16.516773
Burkert M, Blanc E, Thiessen N, Weber C, Toedling J, Monti R, Dombrowe VM, de Biase MS, Kaufmann TL, Haase K, Waszak SM, Eggert A, Beule D, Schulte JH, Ohler U, Schwarz RF. Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma. bioRxiv. 2022. doi:10.1101/2022.08.16.504100v1.full
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer. Journal of the National Cancer Institute (2022). doi:10.1093/jnci/djac151
Kline C*, Jain P*, Kilburn L*, Bonner ER, Gupta N, Crawford JR, Banerjee A, Packer RJ, Villanueva-Meyer J, Luks T, Zhang Y, Kambhampati M, Zhang J, Yadavilli S, Zhang B, Gaonkar KS, Rokita JL, Kraya A, Kuhn J, Liang W, Byron S, Berens M, Molinaro A, Prados M, Resnick A#, Waszak SM#, Nazarian J#, Mueller S#. Upfront biology-guided therapy in diffuse intrinsic pontine glioma: therapeutic, molecular, and biomarker outcomes from PNOC003. Clinical Cancer Research (2022) doi:10.1158/1078-0432.CCR-22-0803. *first authors. #senior authors.
Guerrini-Rousseau L, et al. Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. Journal of Medical Genetics (2022). doi:10.1136/ jmedgenet-2021-108385.