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Page 1
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.
Humar B, Toro T, Graziano F, Müller H, Dobbie Z, Kwang-Yang H, Eng C, Hampel H, Gilbert D, Winship I, Parry S, Ward R, Findlay M, Christian A, Tucker M, Tucker K, Merriman T, Guilford P. Humar B, et al. Among authors: eng c. Hum Mutat. 2002 May;19(5):518-25. doi: 10.1002/humu.10067. Hum Mutat. 2002. PMID: 11968084
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Marsh DJ, et al. Among authors: eng c. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
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: eng c. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Germline PTEN mutations in Cowden syndrome-like families.
Marsh DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C. Marsh DJ, et al. Among authors: eng c. J Med Genet. 1998 Nov;35(11):881-5. doi: 10.1136/jmg.35.11.881. J Med Genet. 1998. PMID: 9832031 Free PMC article.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: eng c. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
Genetic testing for cancer predisposition.
Eng C, Hampel H, de la Chapelle A. Eng C, et al. Annu Rev Med. 2001;52:371-400. doi: 10.1146/annurev.med.52.1.371. Annu Rev Med. 2001. PMID: 11160785 Review.
1,862 results