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Conclusion 91
Other Mutations Deletion exons 4–16 homozygous p.Y165C/p.A385Pf- s a 23 heterozygous p.Y165C/p.V130Ef- s a 98 heterozygous p.R241W homozy- gous p.Y165C/p.E410Gf- s a 43 heterozygous p.G382D monoallelic p.N42S monoallelic p.E465del monoal- lelic IVS7+8G>C monoal- lelic p.Y114H homozy- gous 10
G382D/ Y165C het- erozygous 0 3 0 3
Mutations G382D ho- mozygous 1 6 0 7
% Families With Muta- tion 6/8 (75%) (1 classic and 5 attenu- ated) 13/13 (100%) 1/1 (100%)
Summary of MUTYH Mutations in Latin American Studies
Technique Allele-specific PCR/MLPA/ Array-CGH/ Duplex-qPCR Commercial sequence analyses SSCP Array-CGH, Comparative genomic hybridization on microarray; MLPA, multiple ligation probe amplification; qPCR, quantitative PCR.
Selection Criteria a 1 classical; 7 attenuated Polyposis # unknown FAP classical negative- APC 2 classical; 7 attenu- ated; 13 polyposis # unknown
(families)
N 8 13 1 22 aA classical >100 polyps and attenuated <100 polyps.
Table 5.6 Population Brazil Caspari et al. (1994) Puerto Rico De La Fuente et al. (2007) Chile Oka and Nakabeppu (2011) TOTAL
