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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration; Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C. Loveday C, et al. Among authors: snape k. Ann Oncol. 2022 Dec;33(12):1318-1327. doi: 10.1016/j.annonc.2022.09.152. Epub 2022 Sep 17. Ann Oncol. 2022. PMID: 36122798 Free article.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Among authors: snape k. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, Hawkes L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. Mandelker D, et al. Among authors: snape k. Ann Oncol. 2019 Aug 1;30(8):1221-1231. doi: 10.1093/annonc/mdz136. Ann Oncol. 2019. PMID: 31050713 Free PMC article.
Erratum to 'Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group': [Annals of Oncology 30 (2019) 1221-1231].
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, Hawkes L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. Mandelker D, et al. Among authors: snape k. Ann Oncol. 2021 Aug;32(8):1069-1071. doi: 10.1016/j.annonc.2021.05.798. Epub 2021 Jun 2. Ann Oncol. 2021. PMID: 34090768 Free PMC article. No abstract available.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Speight B, Hanson H, Turnbull C, Hardy S, Drummond J, Khorashad J, Wragg C, Page P, Parkin NW, Rio-Machin A, Fitzgibbon J, Kulasekararaj AG, Hamblin A, Talley P, McVeigh TP, Snape K; Consensus Meeting Attendees. Speight B, et al. Among authors: snape k. Br J Haematol. 2023 Apr;201(1):25-34. doi: 10.1111/bjh.18675. Epub 2023 Feb 6. Br J Haematol. 2023. PMID: 36744544
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC).
Kohut K, Speight B, Young J, Way R, Wiggins J, Monje-Garcia L, Eccles DM, Foster C, Turner L, Snape K, Hanson H; CanGene-CanVar Patient Reference Panel; Consensus Meeting Participants. Kohut K, et al. Among authors: snape k. J Med Genet. 2024 Jan 19;61(2):142-149. doi: 10.1136/jmg-2023-109440. J Med Genet. 2024. PMID: 38050080 Free article.
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
Smith SC, Sirohi D, Ohe C, McHugh JB, Hornick JL, Kalariya J, Karia S, Snape K, Hodgson SV, Cani AK, Hovelson D, Luthringer DJ, Martignoni G, Chen YB, Tomlins SA, Mehra R, Amin MB. Smith SC, et al. Among authors: snape k. Histopathology. 2017 Jul;71(1):42-52. doi: 10.1111/his.13183. Epub 2017 Apr 12. Histopathology. 2017. PMID: 28165631 Free article.
A case of co-existing paraganglioma and thymoma.
Bano G, Sennik D, Kenchaiah M, Kyaw Y, Snape K, Tripathi V, Wilson P, Vlahos I, Hunt I, Hodgson S. Bano G, et al. Among authors: snape k. Springerplus. 2015 Oct 21;4:632. doi: 10.1186/s40064-015-1269-z. eCollection 2015. Springerplus. 2015. PMID: 26543766 Free PMC article.
88 results