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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.
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. 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.
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. Ann Oncol. 2019 Jul 1;30(7):1071-1079. doi: 10.1093/annonc/mdz132. Ann Oncol. 2019. PMID: 31090900 Free PMC article.
The duty to speak up.
Nik-Zainal S. Nik-Zainal S. Nat Cell Biol. 2018 Sep;20(9):1006. doi: 10.1038/s41556-018-0171-7. Nat Cell Biol. 2018. PMID: 30154558 Free PMC article. No abstract available.
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. 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.
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, Amarante TD, Side L, Brice G, Perez-Alonso V, Rueda D, Gomez C, Bushell W, Harris R, Choudhary JS; Genomics England Research Consortium; Jiricny J, Skarnes WC, Nik-Zainal S. Zou X, et al. Nat Cancer. 2021 Jun;2(6):643-657. doi: 10.1038/s43018-021-00200-0. Epub 2021 Apr 26. Nat Cancer. 2021. PMID: 34164627 Free PMC article.