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Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
Sieber OM, Heinimann K, Gorman P, Lamlum H, Crabtree M, Simpson CA, Davies D, Neale K, Hodgson SV, Roylance RR, Phillips RK, Bodmer WF, Tomlinson IP. Sieber OM, et al. Among authors: neale k. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16910-5. doi: 10.1073/pnas.012679099. Epub 2002 Dec 16. Proc Natl Acad Sci U S A. 2002. PMID: 12486240 Free PMC article.
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I. Houlston R, et al. Among authors: neale k. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Among authors: neale k. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.
Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.
Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. Lim W, et al. Among authors: neale k. Br J Cancer. 2003 Jul 21;89(2):308-13. doi: 10.1038/sj.bjc.6601030. Br J Cancer. 2003. PMID: 12865922 Free PMC article.
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Among authors: neale k. Nat Med. 1999 Sep;5(9):1071-5. doi: 10.1038/12511. Nat Med. 1999. PMID: 10470088
74 results