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 |