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Familial adenomatous polyposis (FAP) and its gene, APC.
Bodmer W. Bodmer W. Cytogenet Cell Genet. 1999;86(2):99-104. doi: 10.1159/000015360. Cytogenet Cell Genet. 1999. PMID: 10545698 Review. No abstract available.
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: bodmer w. Nat Med. 1999 Sep;5(9):1071-5. doi: 10.1038/12511. Nat Med. 1999. PMID: 10470088
APC mutations are sufficient for the growth of early colorectal adenomas.
Lamlum H, Papadopoulou A, Ilyas M, Rowan A, Gillet C, Hanby A, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Among authors: bodmer w. Proc Natl Acad Sci U S A. 2000 Feb 29;97(5):2225-8. doi: 10.1073/pnas.040564697. Proc Natl Acad Sci U S A. 2000. PMID: 10681434 Free PMC article.
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: bodmer w. 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.
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I. Lamlum H, et al. Among authors: bodmer w. Hum Mol Genet. 2000 Sep 22;9(15):2215-21. doi: 10.1093/oxfordjournals.hmg.a018912. Hum Mol Genet. 2000. PMID: 11001924
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.
Bevan S, Woodford-Richens K, Rozen P, Eng C, Young J, Dunlop M, Neale K, Phillips R, Markie D, Rodriguez-Bigas M, Leggett B, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Houlston R, Tomlinson I. Bevan S, et al. Among authors: bodmer w. Gut. 1999 Sep;45(3):406-8. doi: 10.1136/gut.45.3.406. Gut. 1999. PMID: 10446110 Free PMC article.
APC mutation associated with late onset of familial adenomatous polyposis.
Smith-Ravin J, Pack K, Hodgson S, Tay SK, Phillips R, Bodmer W. Smith-Ravin J, et al. Among authors: bodmer w. J Med Genet. 1994 Nov;31(11):888-90. doi: 10.1136/jmg.31.11.888. J Med Genet. 1994. PMID: 7853377 Free PMC article.
Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.
Beck NE, Tomlinson IP, Homfray T, Hodgson SV, Harocopos CJ, Bodmer WF. Beck NE, et al. Among authors: bodmer wf. Br J Surg. 1997 Feb;84(2):233-7. Br J Surg. 1997. PMID: 9052445
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: bodmer wf. 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.
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. Jaeger EE, et al. Among authors: bodmer wf. Am J Hum Genet. 2003 May;72(5):1261-7. doi: 10.1086/375144. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696020 Free PMC article.
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