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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D, Van Gool IC, Rayner E, Glaire M, Makino S, Brown M, Chegwidden L, Palles C, Depreeuw J, Beggs A, Stathopoulou C, Mason J, Baker AM, Williams M, Cerundolo V, Rei M, Taylor JC, Schuh A, Ahmed A, Amant F, Lambrechts D, Smit VT, Bosse T, Graham TA, Church DN, Tomlinson I. Temko D, et al. Among authors: schuh a. J Pathol. 2018 Jul;245(3):283-296. doi: 10.1002/path.5081. Epub 2018 Apr 30. J Pathol. 2018. PMID: 29604063 Free PMC article.
The evolutionary landscape of colorectal tumorigenesis.
Cross W, Kovac M, Mustonen V, Temko D, Davis H, Baker AM, Biswas S, Arnold R, Chegwidden L, Gatenbee C, Anderson AR, Koelzer VH, Martinez P, Jiang X, Domingo E, Woodcock DJ, Feng Y, Kovacova M, Maughan T; S:CORT Consortium; Jansen M, Rodriguez-Justo M, Ashraf S, Guy R, Cunningham C, East JE, Wedge DC, Wang LM, Palles C, Heinimann K, Sottoriva A, Leedham SJ, Graham TA, Tomlinson IPM. Cross W, et al. Nat Ecol Evol. 2018 Oct;2(10):1661-1672. doi: 10.1038/s41559-018-0642-z. Epub 2018 Aug 31. Nat Ecol Evol. 2018. PMID: 30177804 Free PMC article.
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Schuh A, Dreau H, Knight SJL, Ridout K, Mizani T, Vavoulis D, Colling R, Antoniou P, Kvikstad EM, Pentony MM, Hamblin A, Protheroe A, Parton M, Shah KA, Orosz Z, Athanasou N, Hassan B, Flanagan AM, Ahmed A, Winter S, Harris A, Tomlinson I, Popitsch N, Church D, Taylor JC. Schuh A, et al. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002279. doi: 10.1101/mcs.a002279. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29610388 Free PMC article.
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A, Wordsworth S, Fermont JM, Page S, Kaur K, Camps C, Kaisaki P, Gupta A, Talbot D, Middleton M, Henderson S, Cutts A, Vavoulis DV, Housby N, Tomlinson I, Taylor JC, Schuh A. Hamblin A, et al. Among authors: schuh a. PLoS Med. 2017 Feb 14;14(2):e1002230. doi: 10.1371/journal.pmed.1002230. eCollection 2017 Feb. PLoS Med. 2017. PMID: 28196074 Free PMC article.
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Purshouse K, Schuh A, Fairfax BP, Knight S, Antoniou P, Dreau H, Popitsch N, Gatter K, Roberts I, Browning L, Traill Z, Kerr D, Verrill C, Tuthill M, Taylor JC, Protheroe A. Purshouse K, et al. Among authors: schuh a. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001362. doi: 10.1101/mcs.a001362. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487881 Free PMC article.
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
Kaisaki PJ, Cutts A, Popitsch N, Camps C, Pentony MM, Wilson G, Page S, Kaur K, Vavoulis D, Henderson S, Gupta A, Middleton MR, Karydis I, Talbot DC, Schuh A, Taylor JC. Kaisaki PJ, et al. Among authors: schuh a. PLoS One. 2016 Sep 14;11(9):e0162809. doi: 10.1371/journal.pone.0162809. eCollection 2016. PLoS One. 2016. PMID: 27626278 Free PMC article.
888 results