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Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.
Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E. Grabowski M, et al. Among authors: ruemmele p. Genet Test. 2005 Summer;9(2):138-46. doi: 10.1089/gte.2005.9.138. Genet Test. 2005. PMID: 15943554
Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR.
Bettstetter M, Dechant S, Ruemmele P, Grabowski M, Keller G, Holinski-Feder E, Hartmann A, Hofstaedter F, Dietmaier W. Bettstetter M, et al. Among authors: ruemmele p. Clin Cancer Res. 2007 Jun 1;13(11):3221-8. doi: 10.1158/1078-0432.CCR-06-3064. Clin Cancer Res. 2007. PMID: 17545526
MethyQESD, a robust and fast method for quantitative methylation analyses in HNPCC diagnostics using formalin-fixed and paraffin-embedded tissue samples.
Bettstetter M, Dechant S, Ruemmele P, Vogel C, Kurz K, Morak M, Keller G, Holinski-Feder E, Hofstaedter F, Dietmaier W. Bettstetter M, et al. Among authors: ruemmele p. Lab Invest. 2008 Dec;88(12):1367-75. doi: 10.1038/labinvest.2008.100. Epub 2008 Oct 20. Lab Invest. 2008. PMID: 18936738 Free article.
Histopathologic features and microsatellite instability of cancers of the papilla of vater and their precursor lesions.
Ruemmele P, Dietmaier W, Terracciano L, Tornillo L, Bataille F, Kaiser A, Wuensch PH, Heinmoeller E, Homayounfar K, Luettges J, Kloeppel G, Sessa F, Edmonston TB, Schneider-Stock R, Klinkhammer-Schalke M, Pauer A, Schick S, Hofstaedter F, Baumhoer D, Hartmann A. Ruemmele P, et al. Am J Surg Pathol. 2009 May;33(5):691-704. doi: 10.1097/PAS.0b013e3181983ef7. Am J Surg Pathol. 2009. PMID: 19252434
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