Page 99 - Genomic Medicine in Emerging Economies

88 CHAPTER 5: Screening for Hereditary Cancer in Latin America

Range c.2522- c.4891 c.3050- c.5365 c.2628- c.4692 c.2486- c.4709 c.3183- c.3925 c.3183- c.3709 c.3149- c.4612 c.2486- c.5365 (codon 829- 1788)

Exon 15 % mutations 26/29 (90%) 8/14 (57%) 13/13 (100%) 15/17 (88%) 3/3 (100%) 4/7 (57%) 6/8 (75%) 75/91 (82%)

Common mutation in codon 1309 10/39 (26%) 2/15 (13%) 1/15 (7%) 3/21 (14%) 3/5 (60%) 1/7 (14%) 1/8 (13%) 21/110 (19%)

Novel 13 (45%) 5 (36%) ND 9 (53%) 0 ND ND
Mutations Total 29 14 13 17 3 7 8 91

% Families with mutation 39/51 (77%) (37 classical and 2 attenuated) 15/23 (65%) (13 classical and 2 at- tenuated) 15/20 (75%) 21/24 (88%) 5/17 (29%) 7/9 (78%) (6 classi- cal and 1 unknown) 8/19 (42%) 110/163 (67%) 92/116 (79%) 4/10 (40%) Array-CGH, Comparative genomic hybridization on microarray; HDA, heteroduplex analysis; MLPA, multiple ligation probe amplification; ND, no
Summary of APC Mutations in Latin American Studies

Technique PTT/SSCP/ qPCR Sanger sequencing/ MLPA/ ArrayCGH/Du- plex-qPCR Sanger sequencing SSCP/PTT HAD (Partial study of exon 15) Sanger sequencing/ Rearrange- ments study Commercial sequence analyses next generation sequencing; PTT, protein truncation test; qPCR, quantitative PCR; SSCP, single-stranded conformational polymorphism.

Selection criteria a 49 classical; 2 attenuated 15 classical; 8 attenuated 20 classical 24 classical Polyposis # unknown 8 classical; 1 polyposis # unknown Polyposis # unknown 116 classical; 10 attenuated; 37 unknown

(families) aA classical >100 polyps and attenuated <100 polyps.

N 51 23 20 24 17 9 19 163

Table 5.5 Study Popula- tion Argentina Bertario et al. (2003) Brazil Caspari et al. (1994) Brazil De Rosa et al. (2004) Chile Torrezan et al. (2013) Cuba De Queiroz Ros- sanese et al. (2013) Hispanics Cruz- Bustillo et al. (2002) Puerto Rico De La Fuente et al. (2007) TOTAL