Page 84 - Genomic Medicine in Emerging Economies

Rear- range- ments ND ND ND ND ND (Continued )

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

Number of Recurrent Mutations (% of total carriers) 3 (42.5%) 3 (17.5%) 1 (28.6%) 3 (54.5%) 1 (20%)

BRCA1 and BRCA2 Mutation Screening in Latin American Hereditary Breast Cancer Cases
Number of Mutations Novel Total 0 3 6 24 2 6 2 8 3 9

BRCA2 8/40 (20%) 5/57 (8.8%) 1/16 (6.5%) 7/54 (13%) 3/61 (4.9%)

Families With Mutation (%) BRCA1 9/40 (22.5%) 10/57 (17.5%) 6/16 (37.5%) 4/54 (7.5%) 7/61 (11.5%)

Screening Method Sanger Se- quencing of 3 founder muta- tions Sanger Se- quencing Sanger Se- quencing PTT, SSCP CSGE

history Features 40 (Ashkenazi-Jewish descent) with two or more relatives with breast cancer and/or presence of rela- tives with ovarian cancer Two or more relatives with breast cancer. Presence of relatives with ovarian Early-onset, and family his- tory according to NCCN guidelines Two or more relatives with breast cancer. Presence of relatives with ovarian can- cer. Presence of relati

Family cancer

Number of Fami- lies 40 57 16 54 61

Table 5.1 Study Population Argentina Solano et al. (2012) Brazil Car- raro et al. (2013) Chile Gal- lardo et al. (2006) Chile Jara et al. (2006)