Tirabosco, Roberto

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

Amary, M. F., Bacsi, K., Maggiani, F., Damato, S., Halai, D., Berisha, F., Pollock, R., O'Donnell, P., Grigoriadis, A., Diss, T., et al. (2011) · The Journal of Pathology

Bone Tumor Diagnosis and TreatmentsSarcoma Diagnosis and Treatment

Cited by 1,023

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

Behjati, S., Tarpey, P. S., Presneau, N., Scheipl, S., Pillay, N., Van Loo, P., Wedge, D. C., Cooke, S. L., Gundem, G., Davies, H., et al. (2013) · Nature Genetics

Bone Tumor Diagnosis and TreatmentsSarcoma Diagnosis and Treatment

Cited by 854

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

Amary, M. F., Damato, S., Halai, D., Eskandarpour, M., Berisha, F., Bonar, F., McCarthy, S., Fantin, V. R., Straley, K. S., Lobo, S., et al. (2011) · Nature Genetics

Bone Tumor Diagnosis and TreatmentsCancer Genomics and Diagnostics

Cited by 428

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Behjati, S., Tarpey, P. S., Haase, K., Ye, H., Young, M. D., Alexandrov, L. B., Farndon, S. J., Collord, G., Wedge, D. C., Martincorena, I., et al. (2017) · Nature Communications

Sarcoma Diagnosis and TreatmentBone Tumor Diagnosis and Treatments

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Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma

Mirabello, L., Zhu, B., Koster, R., Karlins, E., Dean, M., Yeager, M., Gianferante, M., Spector, L. G., Morton, L. M., Karyadi, D., et al. (2020) · JAMA Oncology

Sarcoma Diagnosis and TreatmentBRCA gene mutations in cancer

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Digital PCR analysis of circulating tumor DNA: A biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection

Gutteridge, A., Rathbone, V. M., Gibbons, R., Bi, M., Archard, N., Davies, K. E. J., Brown, J., Plagnol, V., Pillay, N., Amary, F., et al. (2017) · Cancer Medicine

Bone Tumor Diagnosis and TreatmentsSarcoma Diagnosis and Treatment

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Circulating tumour DNA is a promising biomarker for risk stratification of central chondrosarcoma with IDH1/2 and GNAS mutations

Lyskjær, I., Davies, C., Strobl, A., Hindley, J., James, S., Lalam, R. K., Cross, W., Hide, G., Rankin, K. S., Jeys, L., et al. (2021) · Molecular Oncology

Bone Tumor Diagnosis and TreatmentsSarcoma Diagnosis and Treatment

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