Table 1 APC and MUTYH mutation spectrum in Brazilian polyposis patients
ID | Gene | Mutation | Exon | Type | Ref.areported N timesb | |
|---|---|---|---|---|---|---|
Mutation-positive patients with > 100 polyps | ||||||
02 | APC | del 5q21.3-q22.3 (chr5:107916475–113079330 Hg19) | 1-15 | gene deletion | Torrezan et al.[21] | 1 |
04 | APC | c.856_859dupCATG (p.Glu287Alafs*2) | 8 | duplication | Current study | 0 |
05 | APC | c.447dupC (p.Lys150Glnfs*18) | 4 | duplication | Current study | 0 |
23 | APC | c.4097dupC (p.Gln1367Serfs*8) | 15 | duplication | Current study | 0 |
01 | APC | c.904C > T (p.Arg302*) | 8 | nonsense | Mandl et al.[24] | 22 |
03 | APC | c.4348C > T (p.Arg1450*) | 15 | nonsense | Miyaki et al.[25] | 40 |
06 | APC | c.3880-3881delCA (p.Gln1294Glyfs*6) | 15 | deletion | Miyaki et al.[25] | 1 |
07 | APC | c.847C > T (p.Arg283*) | 8 | nonsense | Mandl et al.[24] | 49 |
08 | APC | c.4099C > T (p.Gln1367*) | 15 | nonsense | Friedl and Aretz[26] | 8 |
10 | APC | c.3050-3053delATGA (p.Asn1017Metfs*4) | 15 | deletion | Vandrovcová et al.[27] | 2 |
11 | APC | c.3927-3931delAAAGA (p.Glu1309Aspfs*4) | 15 | deletion | Miyoshi et al.[28] | 304 |
14 | APC | c.4393-4394delAG (p.Ser1465Trpfs*3) | 15 | deletion | Miyoshi et al.[28] | 40 |
21 | APC | c.3927-3931delAAAGA (p.Glu1309Aspfs*4) | 15 | deletion | Miyoshi et al.[28] | 304 |
24 | MUTYH | c.[1187G > C];[=] (p.[Gln396Asp];[=]) | 13 | missense | Al-Tassan et al.[4] | 532 |
Mutation-positive patients with < 100 polyps | ||||||
15 | MUTYH | c.[348 + 33_*64 + 146del4285insTA]; [348 + 33_*64 + 146del4285insTA] | 4-16 | large deletion | Torrezan et al.[23] | 2 |
13 | APC | c.5365G > C (p.Val1789Leu)c | 15 | missense | Current study | 0 |
17 | APC | Exon 1–3 duplication | 1-3 | large duplication | Current study | 0 |
16 | MUTYH | c.[536A > G]; [1147delC] (p.[Tyr179Cys]; [Ala385Profs*23]) | 7;12 | missense; | Al-Tassan et al.[4] | 532; |
deletion | Eliason et al.[29] | 71 | ||||
18 | MUTYH | c.[389-1G > C]; [536A > G] (p.[Val130GlufsX98;p.(spl?)]; [Tyr179Cys]) | i4;7 | splice site; | Olschwang et al.[30] | 2; |
missense | Al-Tassan et al.[4] | 532 | ||||
19 | MUTYH | c.[721C > T]; [721C > T] (p.[Arg241Trp]; [Arg241Trp]) | 9 | missense | Fleischmann et al.[31] | 11 |
447 | MUTYH | c.[536A > G]; [1227-1228dup] (p.[Tyr179Cys]; [Glu410Glyfs*43]) | 7;13 | missense; | Al-Tassan et al.[4]; | 506; |
duplication | Baglioni et al.[32] | 31 | ||||