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EPCAM deletions and heritable MSH2 promoter methylation in Lynch syndrome

โœ Scribed by R.P. Kuiper; A. Geurts van Kessel; R. Venkatachalam; J.H.J.M van Krieken; N. Hoogerbrugge; M.J.L. Ligtenberg


Book ID
113513829
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
36 KB
Volume
203
Category
Article
ISSN
0165-4608

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Recurrence and variability of germline E
โœ Roland P. Kuiper; Lisenka E.L.M. Vissers; Ramprasath Venkatachalam; Danielle Bod ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 335 KB ๐Ÿ‘ 1 views

Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like