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Page 1
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, Nöthen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S. Spier I, et al. Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z. Fam Cancer. 2016. PMID: 26780541
Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Frank B, Burwinkel B, Bermejo JL, Försti A, Hemminki K, Houlston R, Mangold E, Rahner N, Friedl W, Friedrichs N, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Morak M, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P; German HNPCC Consortium. Frank B, et al. Cancer Lett. 2008 Nov 18;271(1):153-7. doi: 10.1016/j.canlet.2008.05.043. Epub 2008 Jul 10. Cancer Lett. 2008. PMID: 18619730
Leiden Open Variation Database of the MUTYH gene.
Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Out AA, et al. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929
Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.
Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; Dutch Cancer Genetics Group; Schumacher J, Nöthen MM, Propping P. Rahner N, et al. Fam Cancer. 2012 Mar;11(1):19-26. doi: 10.1007/s10689-011-9489-z. Fam Cancer. 2012. PMID: 22086303
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.
Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C; German HNPCC Consortium. Steinke V, et al. Int J Cancer. 2014 Jul 1;135(1):69-77. doi: 10.1002/ijc.28650. Epub 2014 Feb 20. Int J Cancer. 2014. PMID: 24493211
Biallelic MUTYH mutations can mimic Lynch syndrome.
Morak M, Heidenreich B, Keller G, Hampel H, Laner A, de la Chapelle A, Holinski-Feder E. Morak M, et al. Eur J Hum Genet. 2014 Nov;22(11):1334-7. doi: 10.1038/ejhg.2014.15. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518836 Free PMC article.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan S, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S. Horpaopan S, et al. Int J Cancer. 2015 Mar 15;136(6):E578-89. doi: 10.1002/ijc.29215. Epub 2014 Sep 30. Int J Cancer. 2015. PMID: 25219767
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S. Spier I, et al. Int J Cancer. 2015 Jul 15;137(2):320-31. doi: 10.1002/ijc.29396. Epub 2015 Jan 20. Int J Cancer. 2015. PMID: 25529843
223 results