Page 85 - Genomic Medicine in Emerging Economies

Rear- range- ments 3 (non patho- genic) 0 ND ND

Number of Founder Mutations (% of total carriers) ND 3 (76.9%) ND ND

Number of Recurrent Mutations (% of total carriers) ND 3 (76.9%) 0 1 (28.6%)

BRCA1 and BRCA2 Mutation Screening in Latin American Hereditary Breast Cancer Cases (Cont.)

Number of Mutations Novel Total ND ND 1 6 3 7 2 6

BRCA2 ND 5/53 (9.4%) 5/42 (12%) 3/51 (5.9%)

Families With Mutation (%) BRCA1 ND 8/53 (15.1%) 2/42 (4.8%) 4/51 (7.8%) CSGE, Conformation sensitive gel electrophoresis; DGGE, denaturing gradient gel electrophoresis; DHPLC, denaturing high performance liquid chromatography; HAD, heteroduplex analysis; HRM, high resolution melting; MLPA, multiple ligation probe amplification; ND, not determined; NGS, next generation seque

Screening Method MLPA SSCP, DHPLC, PTT HDA, PTT CSGE

history Features Two or more relatives with breast cancer. Presence of relatives with ovarian can- cer. Presence of relatives with male breast cancer Two or more relatives with breast cancer. Presence of relatives with ovarian can- cer. Presence of relatives with male breast cancer Two or more relatives with breast cancer. Presence of relatives with ovarian can- cer. Presen

Family

Number of Fami- lies 74 53 42 51 stranded conformational polymorphism.

Table 5.1 Study Population Chile Ewald et al. (2016) Colombia Torres et al. (2007) Uruguay Delgado et al. (2011) Venezuela Lara et al. (2012)