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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: chegwidden l. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V, Heitzer E; CORGI Consortium; Kerr R, Kerr D, Kearsey S, Clark SK, Tomlinson I, Latchford A. Palles C, et al. Among authors: chegwidden l. Fam Cancer. 2022 Apr;21(2):197-209. doi: 10.1007/s10689-021-00256-y. Epub 2021 May 5. Fam Cancer. 2022. PMID: 33948826 Free PMC article.
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: chegwidden l. 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. Among authors: chegwidden l. 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.
The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.
Thomas R, Trapani D, Goodyer-Sait L, Tomkova M, Fernandez-Rozadilla C, Sahnane N, Woolley C, Davis H, Chegwidden L, Kriaucionis S, Maughan T, Leedham S, Palles C, Furlan D, Tomlinson I, Lewis A. Thomas R, et al. Among authors: chegwidden l. Sci Rep. 2019 Sep 17;9(1):13463. doi: 10.1038/s41598-019-49952-x. Sci Rep. 2019. PMID: 31530880 Free PMC article.
Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma.
Buas MF, He Q, Johnson LG, Onstad L, Levine DM, Thrift AP, Gharahkhani P, Palles C, Lagergren J, Fitzgerald RC, Ye W, Caldas C, Bird NC, Shaheen NJ, Bernstein L, Gammon MD, Wu AH, Hardie LJ, Pharoah PD, Liu G, Iyer P, Corley DA, Risch HA, Chow WH, Prenen H, Chegwidden L, Love S, Attwood S, Moayyedi P, MacDonald D, Harrison R, Watson P, Barr H, deCaestecker J, Tomlinson I, Jankowski J, Whiteman DC, MacGregor S, Vaughan TL, Madeleine MM. Buas MF, et al. Among authors: chegwidden l. Gut. 2017 Oct;66(10):1739-1747. doi: 10.1136/gutjnl-2016-311622. Epub 2016 Aug 2. Gut. 2017. PMID: 27486097 Free PMC article.
Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma.
Dighe SG, Chen J, Yan L, He Q, Gharahkhani P, Onstad L, Levine DM, Palles C, Ye W, Gammon MD, Iyer PG, Anderson LA, Liu G, Wu AH, Dai JY, Chow WH, Risch HA, Lagergren J, Shaheen NJ, Bernstein L, Corley DA, Prenen H, deCaestecker J, MacDonald D, Moayyedi P, Barr H, Love SB, Chegwidden L, Attwood S, Watson P, Harrison R, Ott K, Moebus S, Venerito M, Lang H, Mayershofer R, Knapp M, Veits L, Gerges C, Weismüller J, Gockel I, Vashist Y, Nöthen MM, Izbicki JR, Manner H, Neuhaus H, Rösch T, Böhmer AC, Hölscher AH, Anders M, Pech O, Schumacher B, Schmidt C, Schmidt T, Noder T, Lorenz D, Vieth M, May A, Hess T, Kreuser N, Becker J, Ell C, Ambrosone CB, Moysich KB, MacGregor S, Tomlinson I, Whiteman DC, Jankowski J, Schumacher J, Vaughan TL, Madeleine MM, Hardie LJ, Buas MF. Dighe SG, et al. Among authors: chegwidden l. Carcinogenesis. 2021 Apr 17;42(3):369-377. doi: 10.1093/carcin/bgaa132. Carcinogenesis. 2021. PMID: 33300568 Free PMC article.
eQTL Set-Based Association Analysis Identifies Novel Susceptibility Loci for Barrett Esophagus and Esophageal Adenocarcinoma.
Wang X, Gharahkhani P, Levine DM, Fitzgerald RC, Gockel I, Corley DA, Risch HA, Bernstein L, Chow WH, Onstad L, Shaheen NJ, Lagergren J, Hardie LJ, Wu AH, Pharoah PDP, Liu G, Anderson LA, Iyer PG, Gammon MD, Caldas C, Ye W, Barr H, Moayyedi P, Harrison R, Watson RGP, Attwood S, Chegwidden L, Love SB, MacDonald D, deCaestecker J, Prenen H, Ott K, Moebus S, Venerito M, Lang H, Mayershofer R, Knapp M, Veits L, Gerges C, Weismüller J, Reeh M, Nöthen MM, Izbicki JR, Manner H, Neuhaus H, Rösch T, Böhmer AC, Hölscher AH, Anders M, Pech O, Schumacher B, Schmidt C, Schmidt T, Noder T, Lorenz D, Vieth M, May A, Hess T, Kreuser N, Becker J, Ell C, Tomlinson I, Palles C, Jankowski JA, Whiteman DC, MacGregor S, Schumacher J, Vaughan TL, Buas MF, Dai JY. Wang X, et al. Among authors: chegwidden l. Cancer Epidemiol Biomarkers Prev. 2022 Sep 2;31(9):1735-1745. doi: 10.1158/1055-9965.EPI-22-0096. Cancer Epidemiol Biomarkers Prev. 2022. PMID: 35709760 Free PMC article.
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.
Gharahkhani P, Fitzgerald RC, Vaughan TL, Palles C, Gockel I, Tomlinson I, Buas MF, May A, Gerges C, Anders M, Becker J, Kreuser N, Noder T, Venerito M, Veits L, Schmidt T, Manner H, Schmidt C, Hess T, Böhmer AC, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Hackelsberger A, Mayershofer R, Pech O, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM; Barrett's and Esophageal Adenocarcinoma Consortium (BEACON); Esophageal Adenocarcinoma GenEtics Consortium (EAGLE); Wellcome Trust Case Control Consortium 2 (WTCCC2); Attwood S, Barr H, Chegwidden L, de Caestecker J, Harrison R, Love SB, MacDonald D, Moayyedi P, Prenen H, Watson RGP, Iyer PG, Anderson LA, Bernstein L, Chow WH, Hardie LJ, Lagergren J, Liu G, Risch HA, Wu AH, Ye W, Bird NC, Shaheen NJ, Gammon MD, Corley DA, Caldas C, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, MacGregor S, Pharoah P, Whiteman DC, Jankowski J, Schumacher J. Gharahkhani P, et al. Among authors: chegwidden l. Lancet Oncol. 2016 Oct;17(10):1363-1373. doi: 10.1016/S1470-2045(16)30240-6. Epub 2016 Aug 12. Lancet Oncol. 2016. PMID: 27527254 Free PMC article.
12 results