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
✦ LIBER ✦
EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′ EPCAM deletion
✍ Scribed by Spaepen, Marijke; Neven, Esther; Sagaert, Xavier; De Hertogh, Gert; Beert, Eline; Wimmer, Katharina; Matthijs, Gert; Legius, Eric; Brems, Hilde
- Book ID
- 120524154
- Publisher
- John Wiley and Sons
- Year
- 2013
- Tongue
- English
- Weight
- 864 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1045-2257
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## Abstract It was shown that Lynch syndrome can be caused by germline hypermethylation of the __MLH1__ and __MSH2__ promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3′ region of __EPCAM__ cause transcriptional read‐through which results in silencing of
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