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Lynch syndrome deletions in unexpected places

✍ Scribed by Albert de la Chapelle


Book ID
102263905
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
72 KB
Volume
30
Category
Article
ISSN
1059-7794

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Recurrence and variability of germline E
✍ Roland P. Kuiper; Lisenka E.L.M. Vissers; Ramprasath Venkatachalam; Danielle Bod πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 335 KB πŸ‘ 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