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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: mahmood k. 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.
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD, Stewart JR, Clendenning M, Rosty C, Mahmood K, Pope BJ, Jenkins MA, Hopper JL, Southey MC, Macrae FA, Winship IM, Win AK. Buchanan DD, et al. Among authors: mahmood k. Genet Med. 2018 Aug;20(8):890-895. doi: 10.1038/gim.2017.185. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120461 Free PMC article.
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.
Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD. Pope BJ, et al. Among authors: mahmood k. J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29. J Mol Diagn. 2021. PMID: 33383211 Free PMC article.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD. Georgeson P, et al. Among authors: mahmood k. Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 7. Gut. 2021. PMID: 33414168 Free PMC article.
DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer.
Joo JE, Clendenning M, Wong EM, Rosty C, Mahmood K, Georgeson P, Winship IM, Preston SG, Win AK, Dugué PA, Jayasekara H, English D, Macrae FA, Hopper JL, Jenkins MA, Milne RL, Giles GG, Southey MC, Buchanan DD. Joo JE, et al. Among authors: mahmood k. Cancers (Basel). 2021 May 25;13(11):2589. doi: 10.3390/cancers13112589. Cancers (Basel). 2021. PMID: 34070516 Free PMC article.
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Walker R, Como J, Joo JE, Preston S, Hutchinson RA, Pope BJ, Metz A, Beard C, Purvis R, Arnold J, Vijay V, Konycheva G, Atkinson N, Parry S, Jenkins MA, Macrae FA, Rosty C, Winship IM, Buchanan DD. Chan JM, et al. Among authors: mahmood k. Fam Cancer. 2022 Oct;21(4):399-413. doi: 10.1007/s10689-021-00283-9. Epub 2021 Nov 24. Fam Cancer. 2022. PMID: 34817745
506 results