Page 88 - Genomic Medicine in Emerging Economies

Hereditary Breast Cancer 77

Rearrange- ments ND ND ND

BRCA1 and BRCA2 Mutation Screening in Latin American Breast Cancer Cases With No Family History
Number of Recur- rent Mutations (% of total carriers) 0 0 0

Number of Mutations Novel Total 2 5 1 3 0 2

Patients with Mutation BRCA2 BRCA1 1/37 (2.7%) (10.8%) 2/38 (5.3%) 1/38 (2.6%) 1/247 (0.4%) 1/247 (0.4%) CSGE, Conformation sensitive gel electrophoresis; DGGE, denaturing gradient gel electrophoresis; DHPLC, denaturing high performance liquid chromatography;

Screening (%) Method 4/37 Sanger Se- quenc- ing Sanger Se- quenc- ing PTT, DGGE

Personal Breast Can- cer Features Single pre- menopaus- al women with breast cancer Single pre- menopaus- al women with breast cancer Single pre- menopaus- al women with breast cancer Number of patients and mutation frequencies are referred only to no familial cases in each manuscript. ND, not determined; NGS, next generation sequencing; PTT, protein truncation test.

Number of Patients 37 38 247

Table 5.2 Study Population Argentina Solano et al. (2012) Brazil Carraro et al. (2013) Cuba Rodriguez et al. (2008)