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Table 2 Characteristics of the EPCAM deletions compiled by Kuiper et al., 2011 and Mur et al., 2013

From: Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review

No Nomenclature Population Number of families Deleted EPCAM exons Size deletion (bp) Breakpoint homology (bp) Type of repeat element Reference
1 c.859-1462_*1999del (founder mutation) Dutch 16 8+9 4909 6 AluSx/ AluSq Ligtenberg et al., 2009 Niessen et al., 2009
2 c.491+529_*874del German 2 5-9 11.660 25 AluSg/ AluSg/x Kuiper et al., 2011
3 c.492-509_*13721del Swiss 2 5-9 23.829 24 AluSp/AluSg Van der Klift et al., 2005
4 c.555+402_*1220del Hungarian 1 6-9 10.355 12 AluSx/AluSx Kovacs et al., 2009
5 c.555+927_*14226del Chinese/ American 3 6-9 22.836 32 AluY/AluSc Ligtenberg et al., 2009
6 c.555+901_*4492del American 2 6-9 13.128 15 AluY/AluSx Kuiper et al., 2011
7 c.858+1244_*4562del Dutch 1 8+9 9963 18 AluSp/AluSx Kuiper et al., 2011
8 c.858+1211_4529del German 1 8+9 9963 8 AluSp/AluSx Kuiper et al., 2011
9 c.858+1364_*4793del_insAG German 1 8+9 10.074 - AluSp/FLAM-C Alu Kuiper et al., 2011
10 c.858+2478_*4507del German/ Hungarian 3 8+9 8674 14 AluSp/AluSx Kovacs et al., 2009
11 c.859-2524_*10762del Hungarian 1 8+9 14.734 15 AluSp/AluSp Kuiper et al., 2011
12 c.859-353_*618del English 1 8+9 2419 3 AluSx/AluSg Kuiper et al., 2011
13 c.859-670_*530del German 1 8+9 2648 18 AluSx/AluSg Kuiper et al., 2011
14 c.859-689_*14697del German# 4 8+9 16.834 24 AluSx/AluSx Kuiper et al., 2011
15 c.859-696_*391del Hungarian 1 8+9 6058 19 AluSx/AluJo Kovacs et al., 2009
16 c.859-1682_*2116del German 1 8+9 5246 13 AluJb/AluSq Kuiper et al., 2011
17 c.859-1605_*5862del American 1 8+9 8879 10 AluJb/AluSq Kuiper et al., 2011
18 c.859-645_*10911del American 1 8+9 13.004 14 AluSx/AluSx Van der Klift et al., 2005
19 c.423-545_*3903del German 1 4-9 16.500 7 AluSq/AluJo Kuiper et al., 2011
20 c.859-1860_MSH2:646-254del Spanish 1 8+9 and exons 1–3 of MSH2 28.900 3 AluY/AluSx Cabornero et al., 2011
21 c.858+2568_*4596del (founder mutation) Spanish 3 8+9 8672 32 AluSp/AluSx Mur et al., 2013
22 c.858+2488_*7469del Spanish 2 8+9 11.600 19 AluSp/AluSp Mur et al., 2013
23 c.555+894_*14194del Chinese 2 intron5-2.4 kb upstream of MSH2; 22.8 kb 6 AluSx/AluSq Ligtenberg et al., 2009
  1. German# - includes one family from unknown European origin (van der Klift et al., 2005).