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EPCAM deletions, Lynch syndrome, and cancer risk

✍ Scribed by Henry T Lynch; Jane F Lynch; Carrie L Snyder; Douglas Riegert-Johnson

Book ID
117785542
Publisher
The Lancet
Year
2011
Tongue
English
Weight
47 KB
Volume
12
Category
Article
ISSN
1470-2045

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Recurrence and variability of germline E
Recurrence and variability of germline EPCAM deletions in Lynch syndrome
✍ 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