Table 1.
APCandMUTYHmutation 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 | ||||
a The following databases were consulted: LOVD: http://www.lovd.nl/2.0/; dbSNP: http://www.ncbi.nlm.nih.gov/projects/SNP/; and 1000 Genomes: http://www.1000genomes.org/; b Number of times reported at LOVD database; c Variant of unknown clinical significance.