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Page 1
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Degasperi A, Zou X, Amarante TD, Martinez-Martinez A, Koh GCC, Dias JML, Heskin L, Chmelova L, Rinaldi G, Wang VYW, Nanda AS, Bernstein A, Momen SE, Young J, Perez-Gil D, Memari Y, Badja C, Shooter S, Czarnecki J, Brown MA, Davies HR; Genomics England Research Consortium; Nik-Zainal S. Degasperi A, et al. Science. 2022 Apr 22;376(6591):science.abl9283. doi: 10.1126/science.abl9283. eCollection 2022 Apr 22. Science. 2022. PMID: 35949260 Free PMC article.
A Compendium of Mutational Signatures of Environmental Agents.
Kucab JE, Zou X, Morganella S, Joel M, Nanda AS, Nagy E, Gomez C, Degasperi A, Harris R, Jackson SP, Arlt VM, Phillips DH, Nik-Zainal S. Kucab JE, et al. Among authors: degasperi a. Cell. 2019 May 2;177(4):821-836.e16. doi: 10.1016/j.cell.2019.03.001. Epub 2019 Apr 11. Cell. 2019. PMID: 30982602 Free PMC article.
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid LE, McCart Reed AE, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB); Beesley J, Harris JM, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT. Nones K, et al. Among authors: degasperi a. Ann Oncol. 2019 Jul 1;30(7):1071-1079. doi: 10.1093/annonc/mdz132. Ann Oncol. 2019. PMID: 31090900 Free PMC article.
A practical guide for mutational signature analysis in hematological malignancies.
Maura F, Degasperi A, Nadeu F, Leongamornlert D, Davies H, Moore L, Royo R, Ziccheddu B, Puente XS, Avet-Loiseau H, Campbell PJ, Nik-Zainal S, Campo E, Munshi N, Bolli N. Maura F, et al. Among authors: degasperi a. Nat Commun. 2019 Jul 5;10(1):2969. doi: 10.1038/s41467-019-11037-8. Nat Commun. 2019. PMID: 31278357 Free PMC article.
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S. Staaf J, et al. Among authors: degasperi a. Nat Med. 2019 Oct;25(10):1526-1533. doi: 10.1038/s41591-019-0582-4. Epub 2019 Sep 30. Nat Med. 2019. PMID: 31570822 Free PMC article.
Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease.
Momen S, Fassihi H, Davies HR, Nikolaou C, Degasperi A, Stefanato CM, Dias JML, Dasgupta D, Craythorne E, Sarkany R, Papa S, Nik-Zainal S. Momen S, et al. Among authors: degasperi a. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004408. doi: 10.1101/mcs.a004408. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31645345 Free PMC article.
A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies.
Degasperi A, Amarante TD, Czarnecki J, Shooter S, Zou X, Glodzik D, Morganella S, Nanda AS, Badja C, Koh G, Momen SE, Georgakopoulos-Soares I, Dias JML, Young J, Memari Y, Davies H, Nik-Zainal S. Degasperi A, et al. Nat Cancer. 2020 Feb;1(2):249-263. doi: 10.1038/s43018-020-0027-5. Epub 2020 Feb 17. Nat Cancer. 2020. PMID: 32118208 Free PMC article.
Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer.
Chopra N, Tovey H, Pearson A, Cutts R, Toms C, Proszek P, Hubank M, Dowsett M, Dodson A, Daley F, Kriplani D, Gevensleben H, Davies HR, Degasperi A, Roylance R, Chan S, Tutt A, Skene A, Evans A, Bliss JM, Nik-Zainal S, Turner NC. Chopra N, et al. Among authors: degasperi a. Nat Commun. 2020 May 29;11(1):2662. doi: 10.1038/s41467-020-16142-7. Nat Commun. 2020. PMID: 32471999 Free PMC article. Clinical Trial.
99 results