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A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.
Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I. Rosmarin D, et al. Among authors: taylor j. Gut. 2015 Jan;64(1):111-20. doi: 10.1136/gutjnl-2013-306571. Epub 2014 Mar 19. Gut. 2015. PMID: 24647007 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Among authors: taylor j. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN, Briggs SE, Palles C, Domingo E, Kearsey SJ, Grimes JM, Gorman M, Martin L, Howarth KM, Hodgson SV; NSECG Collaborators; Kaur K, Taylor J, Tomlinson IP. Church DN, et al. Among authors: taylor j. Hum Mol Genet. 2013 Jul 15;22(14):2820-8. doi: 10.1093/hmg/ddt131. Epub 2013 Mar 24. Hum Mol Genet. 2013. PMID: 23528559 Free PMC article.
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K; HMPS Collaboration; East J, Taylor J, Thomas H, Tomlinson I. Jaeger E, et al. Among authors: taylor j. Nat Genet. 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. Nat Genet. 2012. PMID: 22561515 Free PMC article.
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.
Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Among authors: taylor j. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B, Lucas M, Malinauskas T, Martin HC; WGS500 Consortium; Lockstone HE, Cazier JB, Chapel HM, Knight JC, Patel SY. van Schouwenburg PA, et al. Clin Immunol. 2015 Oct;160(2):301-14. doi: 10.1016/j.clim.2015.05.020. Epub 2015 Jun 26. Clin Immunol. 2015. PMID: 26122175 Free PMC article.
Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium; Ratcliffe PJ, Robbins PA, McMullin MF. Petousi N, et al. Haematologica. 2014 Oct;99(10):e201-4. doi: 10.3324/haematol.2014.109306. Epub 2014 Jul 11. Haematologica. 2014. PMID: 25015942 Free PMC article. No abstract available.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
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