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Page 1
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: pearson j. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles.
Song S, Nones K, Miller D, Harliwong I, Kassahn KS, Pinese M, Pajic M, Gill AJ, Johns AL, Anderson M, Holmes O, Leonard C, Taylor D, Wood S, Xu Q, Newell F, Cowley MJ, Wu J, Wilson P, Fink L, Biankin AV, Waddell N, Grimmond SM, Pearson JV. Song S, et al. Among authors: pearson jv. PLoS One. 2012;7(9):e45835. doi: 10.1371/journal.pone.0045835. Epub 2012 Sep 25. PLoS One. 2012. PMID: 23049875 Free PMC article.
Somatic point mutation calling in low cellularity tumors.
Kassahn KS, Holmes O, Nones K, Patch AM, Miller DK, Christ AN, Harliwong I, Bruxner TJ, Xu Q, Anderson M, Wood S, Leonard C, Taylor D, Newell F, Song S, Idrisoglu S, Nourse C, Nourbakhsh E, Manning S, Wani S, Steptoe A, Pajic M, Cowley MJ, Pinese M, Chang DK, Gill AJ, Johns AL, Wu J, Wilson PJ, Fink L, Biankin AV, Waddell N, Grimmond SM, Pearson JV. Kassahn KS, et al. Among authors: pearson jv. PLoS One. 2013 Nov 8;8(11):e74380. doi: 10.1371/journal.pone.0074380. eCollection 2013. PLoS One. 2013. PMID: 24250782 Free PMC article.
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.
Nones K, Waddell N, Wayte N, Patch AM, Bailey P, Newell F, Holmes O, Fink JL, Quinn MCJ, Tang YH, Lampe G, Quek K, Loffler KA, Manning S, Idrisoglu S, Miller D, Xu Q, Waddell N, Wilson PJ, Bruxner TJC, Christ AN, Harliwong I, Nourse C, Nourbakhsh E, Anderson M, Kazakoff S, Leonard C, Wood S, Simpson PT, Reid LE, Krause L, Hussey DJ, Watson DI, Lord RV, Nancarrow D, Phillips WA, Gotley D, Smithers BM, Whiteman DC, Hayward NK, Campbell PJ, Pearson JV, Grimmond SM, Barbour AP. Nones K, et al. Among authors: pearson jv. Nat Commun. 2014 Oct 29;5:5224. doi: 10.1038/ncomms6224. Nat Commun. 2014. PMID: 25351503 Free PMC article.
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance.
Saunus JM, Quinn MC, Patch AM, Pearson JV, Bailey PJ, Nones K, McCart Reed AE, Miller D, Wilson PJ, Al-Ejeh F, Mariasegaram M, Lau Q, Withers T, Jeffree RL, Reid LE, Da Silva L, Matsika A, Niland CM, Cummings MC, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, Manning S, Nourse C, Nourbakhsh E, Wani S, Anderson MJ, Fink JL, Holmes O, Kazakoff S, Leonard C, Newell F, Taylor D, Waddell N, Wood S, Xu Q, Kassahn KS, Narayanan V, Taib NA, Teo SH, Chow YP, kConFab, Jat PS, Brandner S, Flanagan AM, Khanna KK, Chenevix-Trench G, Grimmond SM, Simpson PT, Waddell N, Lakhani SR. Saunus JM, et al. Among authors: pearson jv. J Pathol. 2015 Nov;237(3):363-78. doi: 10.1002/path.4583. Epub 2015 Aug 19. J Pathol. 2015. PMID: 26172396
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding.
Painter JN, Kaufmann S, O'Mara TA, Hillman KM, Sivakumaran H, Darabi H, Cheng THT, Pearson J, Kazakoff S, Waddell N, Hoivik EA, Goode EL, Scott RJ, Tomlinson I, Dunning AM, Easton DF, French JD, Salvesen HB, Pollock PM, Thompson DJ, Spurdle AB, Edwards SL. Painter JN, et al. Among authors: pearson j. Am J Hum Genet. 2016 Jun 2;98(6):1159-1169. doi: 10.1016/j.ajhg.2016.04.012. Am J Hum Genet. 2016. PMID: 27259051 Free PMC article.
Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance.
Secrier M, Li X, de Silva N, Eldridge MD, Contino G, Bornschein J, MacRae S, Grehan N, O'Donovan M, Miremadi A, Yang TP, Bower L, Chettouh H, Crawte J, Galeano-Dalmau N, Grabowska A, Saunders J, Underwood T, Waddell N, Barbour AP, Nutzinger B, Achilleos A, Edwards PA, Lynch AG, Tavaré S, Fitzgerald RC; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium. Secrier M, et al. Nat Genet. 2016 Oct;48(10):1131-41. doi: 10.1038/ng.3659. Epub 2016 Sep 5. Nat Genet. 2016. PMID: 27595477 Free PMC article.
Mutation load in melanoma is affected by MC1R genotype.
Johansson PA, Pritchard AL, Patch AM, Wilmott JS, Pearson JV, Waddell N, Scolyer RA, Mann GJ, Hayward NK. Johansson PA, et al. Among authors: pearson jv. Pigment Cell Melanoma Res. 2017 Mar;30(2):255-258. doi: 10.1111/pcmr.12571. Epub 2017 Mar 7. Pigment Cell Melanoma Res. 2017. PMID: 28024115
Unexpected UVR and non-UVR mutation burden in some acral and cutaneous melanomas.
Rawson RV, Johansson PA, Hayward NK, Waddell N, Patch AM, Lo S, Pearson JV, Thompson JF, Mann GJ, Scolyer RA, Wilmott JS. Rawson RV, et al. Among authors: pearson jv. Lab Invest. 2017 Feb;97(2):130-145. doi: 10.1038/labinvest.2016.143. Epub 2017 Jan 9. Lab Invest. 2017. PMID: 28067894 Free article.
Lost in translation: returning germline genetic results in genome-scale cancer research.
Johns AL, McKay SH, Humphris JL, Pinese M, Chantrill LA, Mead RS, Tucker K, Andrews L, Goodwin A, Leonard C, High HA, Nones K, Patch AM, Merrett ND, Pavlakis N, Kassahn KS, Samra JS, Miller DK, Chang DK, Pajic M; Australian Pancreatic Cancer Genome Initiative; Pearson JV, Grimmond SM, Waddell N, Zeps N, Gill AJ, Biankin AV. Johns AL, et al. Among authors: pearson jv. Genome Med. 2017 Apr 28;9(1):41. doi: 10.1186/s13073-017-0430-4. Genome Med. 2017. PMID: 28454591 Free PMC article.
3,411 results